October 10, 2023; 101 (15) Clinical/Scientific Note
Clinical, Radiologic, and Immunologic Features of Patients With CTLA4 Deficiency With Neurologic Involvement
View ORCID ProfileCyrille Coustal, Radjiv Goulabchand, Pierre Labauge, Philippe Guilpain, View ORCID ProfileClarisse Carra-Dallière, Edouard Januel, Eric Jeziorski, Valery Salle, View ORCID ProfileJean-François Viallard, View ORCID ProfileDavid Boutboul, Claire Fieschi, Delphine Gobert, Nathalie Aladjidi, Patricia Rullier, Julie Graveleau, Marie Piel-Julian, View ORCID ProfileFelipe Suarez, Benedicte Neven, View ORCID ProfileNizar Mahlaoui, View ORCID ProfileXavier Ayrignac
First published July 24, 2023, DOI: https://doi.org/10.1212/WNL.0000000000207609
Cyrille Coustal
From the Department of Internal Medicine and Multi-Organic Diseases (C.C., P.G., P.R.), Local Referral Center for Rare Autoimmune Diseases, Montpellier University Hospital; University of Montpellier (C.C., R.G., P.L., P.G., E. Jeziorski, X.A.); Internal Medicine Department (R.G.), CHU Nîmes; Department of Neurology (P.L., C.C.-D., X.A.), Montpellier University Hospital; INM (P.L., X.A.), INSERM; Institute of Regenerative Medicine and Biotherapy (P.G.), INSERM U1183, Montpellier; Sorbonne Université (E. Januel); Institut Pierre Louis d’Epidémiologie et de Santé Publique (E. Januel), Département de Santé Publique; Département de Neurologie (E. Januel), Hôpital Pitié Salpêtrière, AP-HP, Paris; Pediatrics Department (E. Jeziorski), Montpellier University Hospital; Department of Internal Medicine (V.S.), Amiens University Medical Center; Internal Medicine Department (J.-F.V.), Bordeaux University Hospital Centre, Hôpital Haut-Lévêque, Pessac; Clinical Immunology Department (D.B., C.F.), National Reference Center for Castleman Disease; UMR 1149 CRI INSERM (D.B.), Hôpital Saint Louis, Assistance Publique Hôpitaux de Paris (APHP); Université Paris Diderot (D.B., C.F.); Inserm U1126 (C.F.), Centre Hayem, Hôpital Saint-Louis; Internal Medicine Department (D.G.), Hôpital Saint Antoine, APHP, Paris; Pediatric Oncology Hematology Unit (N.A.), Bordeaux University Hospital; Plurithématique CIC (CICP) (N.A.), Centre d'Investigation Clinique (CIC) 1401, INSERM; Centre de Référence National des Cytopénies Autoimmunes de l'Enfant (CEREVANCE) (N.A.), Bordeaux; Department of Internal Medicine (J.G.), Saint-Nazaire Hospital; Department of Internal Medicine (M.P.-J.), Purpan University Hospital, Toulouse; Department of Hematology (F.S.), Necker-Enfants Malades University Hospital, AP-HP; INSERM UMR 1163 and CNRS ERL 8254 (F.S.), Imagine Institut; Descartes University (F.S., B.N.); Pediatric Hematology-Immunology and Rheumatology Department (B.N., N.M.), Hôpital Necker-Enfants Malades, AP-HP; Laboratory of Immunogenetics of Pediatric Autoimmunity (B.N.), INSERM UMR 1163, Imagine Institute; and French National Reference Center for Primary Immune Deficiencies (CEREDIH) (N.M.), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
MDRadjiv Goulabchand
From the Department of Internal Medicine and Multi-Organic Diseases (C.C., P.G., P.R.), Local Referral Center for Rare Autoimmune Diseases, Montpellier University Hospital; University of Montpellier (C.C., R.G., P.L., P.G., E. Jeziorski, X.A.); Internal Medicine Department (R.G.), CHU Nîmes; Department of Neurology (P.L., C.C.-D., X.A.), Montpellier University Hospital; INM (P.L., X.A.), INSERM; Institute of Regenerative Medicine and Biotherapy (P.G.), INSERM U1183, Montpellier; Sorbonne Université (E. Januel); Institut Pierre Louis d’Epidémiologie et de Santé Publique (E. Januel), Département de Santé Publique; Département de Neurologie (E. Januel), Hôpital Pitié Salpêtrière, AP-HP, Paris; Pediatrics Department (E. Jeziorski), Montpellier University Hospital; Department of Internal Medicine (V.S.), Amiens University Medical Center; Internal Medicine Department (J.-F.V.), Bordeaux University Hospital Centre, Hôpital Haut-Lévêque, Pessac; Clinical Immunology Department (D.B., C.F.), National Reference Center for Castleman Disease; UMR 1149 CRI INSERM (D.B.), Hôpital Saint Louis, Assistance Publique Hôpitaux de Paris (APHP); Université Paris Diderot (D.B., C.F.); Inserm U1126 (C.F.), Centre Hayem, Hôpital Saint-Louis; Internal Medicine Department (D.G.), Hôpital Saint Antoine, APHP, Paris; Pediatric Oncology Hematology Unit (N.A.), Bordeaux University Hospital; Plurithématique CIC (CICP) (N.A.), Centre d'Investigation Clinique (CIC) 1401, INSERM; Centre de Référence National des Cytopénies Autoimmunes de l'Enfant (CEREVANCE) (N.A.), Bordeaux; Department of Internal Medicine (J.G.), Saint-Nazaire Hospital; Department of Internal Medicine (M.P.-J.), Purpan University Hospital, Toulouse; Department of Hematology (F.S.), Necker-Enfants Malades University Hospital, AP-HP; INSERM UMR 1163 and CNRS ERL 8254 (F.S.), Imagine Institut; Descartes University (F.S., B.N.); Pediatric Hematology-Immunology and Rheumatology Department (B.N., N.M.), Hôpital Necker-Enfants Malades, AP-HP; Laboratory of Immunogenetics of Pediatric Autoimmunity (B.N.), INSERM UMR 1163, Imagine Institute; and French National Reference Center for Primary Immune Deficiencies (CEREDIH) (N.M.), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
MD, PhDPierre Labauge
From the Department of Internal Medicine and Multi-Organic Diseases (C.C., P.G., P.R.), Local Referral Center for Rare Autoimmune Diseases, Montpellier University Hospital; University of Montpellier (C.C., R.G., P.L., P.G., E. Jeziorski, X.A.); Internal Medicine Department (R.G.), CHU Nîmes; Department of Neurology (P.L., C.C.-D., X.A.), Montpellier University Hospital; INM (P.L., X.A.), INSERM; Institute of Regenerative Medicine and Biotherapy (P.G.), INSERM U1183, Montpellier; Sorbonne Université (E. Januel); Institut Pierre Louis d’Epidémiologie et de Santé Publique (E. Januel), Département de Santé Publique; Département de Neurologie (E. Januel), Hôpital Pitié Salpêtrière, AP-HP, Paris; Pediatrics Department (E. Jeziorski), Montpellier University Hospital; Department of Internal Medicine (V.S.), Amiens University Medical Center; Internal Medicine Department (J.-F.V.), Bordeaux University Hospital Centre, Hôpital Haut-Lévêque, Pessac; Clinical Immunology Department (D.B., C.F.), National Reference Center for Castleman Disease; UMR 1149 CRI INSERM (D.B.), Hôpital Saint Louis, Assistance Publique Hôpitaux de Paris (APHP); Université Paris Diderot (D.B., C.F.); Inserm U1126 (C.F.), Centre Hayem, Hôpital Saint-Louis; Internal Medicine Department (D.G.), Hôpital Saint Antoine, APHP, Paris; Pediatric Oncology Hematology Unit (N.A.), Bordeaux University Hospital; Plurithématique CIC (CICP) (N.A.), Centre d'Investigation Clinique (CIC) 1401, INSERM; Centre de Référence National des Cytopénies Autoimmunes de l'Enfant (CEREVANCE) (N.A.), Bordeaux; Department of Internal Medicine (J.G.), Saint-Nazaire Hospital; Department of Internal Medicine (M.P.-J.), Purpan University Hospital, Toulouse; Department of Hematology (F.S.), Necker-Enfants Malades University Hospital, AP-HP; INSERM UMR 1163 and CNRS ERL 8254 (F.S.), Imagine Institut; Descartes University (F.S., B.N.); Pediatric Hematology-Immunology and Rheumatology Department (B.N., N.M.), Hôpital Necker-Enfants Malades, AP-HP; Laboratory of Immunogenetics of Pediatric Autoimmunity (B.N.), INSERM UMR 1163, Imagine Institute; and French National Reference Center for Primary Immune Deficiencies (CEREDIH) (N.M.), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
PhDPhilippe Guilpain
From the Department of Internal Medicine and Multi-Organic Diseases (C.C., P.G., P.R.), Local Referral Center for Rare Autoimmune Diseases, Montpellier University Hospital; University of Montpellier (C.C., R.G., P.L., P.G., E. Jeziorski, X.A.); Internal Medicine Department (R.G.), CHU Nîmes; Department of Neurology (P.L., C.C.-D., X.A.), Montpellier University Hospital; INM (P.L., X.A.), INSERM; Institute of Regenerative Medicine and Biotherapy (P.G.), INSERM U1183, Montpellier; Sorbonne Université (E. Januel); Institut Pierre Louis d’Epidémiologie et de Santé Publique (E. Januel), Département de Santé Publique; Département de Neurologie (E. Januel), Hôpital Pitié Salpêtrière, AP-HP, Paris; Pediatrics Department (E. Jeziorski), Montpellier University Hospital; Department of Internal Medicine (V.S.), Amiens University Medical Center; Internal Medicine Department (J.-F.V.), Bordeaux University Hospital Centre, Hôpital Haut-Lévêque, Pessac; Clinical Immunology Department (D.B., C.F.), National Reference Center for Castleman Disease; UMR 1149 CRI INSERM (D.B.), Hôpital Saint Louis, Assistance Publique Hôpitaux de Paris (APHP); Université Paris Diderot (D.B., C.F.); Inserm U1126 (C.F.), Centre Hayem, Hôpital Saint-Louis; Internal Medicine Department (D.G.), Hôpital Saint Antoine, APHP, Paris; Pediatric Oncology Hematology Unit (N.A.), Bordeaux University Hospital; Plurithématique CIC (CICP) (N.A.), Centre d'Investigation Clinique (CIC) 1401, INSERM; Centre de Référence National des Cytopénies Autoimmunes de l'Enfant (CEREVANCE) (N.A.), Bordeaux; Department of Internal Medicine (J.G.), Saint-Nazaire Hospital; Department of Internal Medicine (M.P.-J.), Purpan University Hospital, Toulouse; Department of Hematology (F.S.), Necker-Enfants Malades University Hospital, AP-HP; INSERM UMR 1163 and CNRS ERL 8254 (F.S.), Imagine Institut; Descartes University (F.S., B.N.); Pediatric Hematology-Immunology and Rheumatology Department (B.N., N.M.), Hôpital Necker-Enfants Malades, AP-HP; Laboratory of Immunogenetics of Pediatric Autoimmunity (B.N.), INSERM UMR 1163, Imagine Institute; and French National Reference Center for Primary Immune Deficiencies (CEREDIH) (N.M.), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
MD, PhDClarisse Carra-Dallière
From the Department of Internal Medicine and Multi-Organic Diseases (C.C., P.G., P.R.), Local Referral Center for Rare Autoimmune Diseases, Montpellier University Hospital; University of Montpellier (C.C., R.G., P.L., P.G., E. Jeziorski, X.A.); Internal Medicine Department (R.G.), CHU Nîmes; Department of Neurology (P.L., C.C.-D., X.A.), Montpellier University Hospital; INM (P.L., X.A.), INSERM; Institute of Regenerative Medicine and Biotherapy (P.G.), INSERM U1183, Montpellier; Sorbonne Université (E. Januel); Institut Pierre Louis d’Epidémiologie et de Santé Publique (E. Januel), Département de Santé Publique; Département de Neurologie (E. Januel), Hôpital Pitié Salpêtrière, AP-HP, Paris; Pediatrics Department (E. Jeziorski), Montpellier University Hospital; Department of Internal Medicine (V.S.), Amiens University Medical Center; Internal Medicine Department (J.-F.V.), Bordeaux University Hospital Centre, Hôpital Haut-Lévêque, Pessac; Clinical Immunology Department (D.B., C.F.), National Reference Center for Castleman Disease; UMR 1149 CRI INSERM (D.B.), Hôpital Saint Louis, Assistance Publique Hôpitaux de Paris (APHP); Université Paris Diderot (D.B., C.F.); Inserm U1126 (C.F.), Centre Hayem, Hôpital Saint-Louis; Internal Medicine Department (D.G.), Hôpital Saint Antoine, APHP, Paris; Pediatric Oncology Hematology Unit (N.A.), Bordeaux University Hospital; Plurithématique CIC (CICP) (N.A.), Centre d'Investigation Clinique (CIC) 1401, INSERM; Centre de Référence National des Cytopénies Autoimmunes de l'Enfant (CEREVANCE) (N.A.), Bordeaux; Department of Internal Medicine (J.G.), Saint-Nazaire Hospital; Department of Internal Medicine (M.P.-J.), Purpan University Hospital, Toulouse; Department of Hematology (F.S.), Necker-Enfants Malades University Hospital, AP-HP; INSERM UMR 1163 and CNRS ERL 8254 (F.S.), Imagine Institut; Descartes University (F.S., B.N.); Pediatric Hematology-Immunology and Rheumatology Department (B.N., N.M.), Hôpital Necker-Enfants Malades, AP-HP; Laboratory of Immunogenetics of Pediatric Autoimmunity (B.N.), INSERM UMR 1163, Imagine Institute; and French National Reference Center for Primary Immune Deficiencies (CEREDIH) (N.M.), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
MDEdouard Januel
From the Department of Internal Medicine and Multi-Organic Diseases (C.C., P.G., P.R.), Local Referral Center for Rare Autoimmune Diseases, Montpellier University Hospital; University of Montpellier (C.C., R.G., P.L., P.G., E. Jeziorski, X.A.); Internal Medicine Department (R.G.), CHU Nîmes; Department of Neurology (P.L., C.C.-D., X.A.), Montpellier University Hospital; INM (P.L., X.A.), INSERM; Institute of Regenerative Medicine and Biotherapy (P.G.), INSERM U1183, Montpellier; Sorbonne Université (E. Januel); Institut Pierre Louis d’Epidémiologie et de Santé Publique (E. Januel), Département de Santé Publique; Département de Neurologie (E. Januel), Hôpital Pitié Salpêtrière, AP-HP, Paris; Pediatrics Department (E. Jeziorski), Montpellier University Hospital; Department of Internal Medicine (V.S.), Amiens University Medical Center; Internal Medicine Department (J.-F.V.), Bordeaux University Hospital Centre, Hôpital Haut-Lévêque, Pessac; Clinical Immunology Department (D.B., C.F.), National Reference Center for Castleman Disease; UMR 1149 CRI INSERM (D.B.), Hôpital Saint Louis, Assistance Publique Hôpitaux de Paris (APHP); Université Paris Diderot (D.B., C.F.); Inserm U1126 (C.F.), Centre Hayem, Hôpital Saint-Louis; Internal Medicine Department (D.G.), Hôpital Saint Antoine, APHP, Paris; Pediatric Oncology Hematology Unit (N.A.), Bordeaux University Hospital; Plurithématique CIC (CICP) (N.A.), Centre d'Investigation Clinique (CIC) 1401, INSERM; Centre de Référence National des Cytopénies Autoimmunes de l'Enfant (CEREVANCE) (N.A.), Bordeaux; Department of Internal Medicine (J.G.), Saint-Nazaire Hospital; Department of Internal Medicine (M.P.-J.), Purpan University Hospital, Toulouse; Department of Hematology (F.S.), Necker-Enfants Malades University Hospital, AP-HP; INSERM UMR 1163 and CNRS ERL 8254 (F.S.), Imagine Institut; Descartes University (F.S., B.N.); Pediatric Hematology-Immunology and Rheumatology Department (B.N., N.M.), Hôpital Necker-Enfants Malades, AP-HP; Laboratory of Immunogenetics of Pediatric Autoimmunity (B.N.), INSERM UMR 1163, Imagine Institute; and French National Reference Center for Primary Immune Deficiencies (CEREDIH) (N.M.), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
MDEric Jeziorski
From the Department of Internal Medicine and Multi-Organic Diseases (C.C., P.G., P.R.), Local Referral Center for Rare Autoimmune Diseases, Montpellier University Hospital; University of Montpellier (C.C., R.G., P.L., P.G., E. Jeziorski, X.A.); Internal Medicine Department (R.G.), CHU Nîmes; Department of Neurology (P.L., C.C.-D., X.A.), Montpellier University Hospital; INM (P.L., X.A.), INSERM; Institute of Regenerative Medicine and Biotherapy (P.G.), INSERM U1183, Montpellier; Sorbonne Université (E. Januel); Institut Pierre Louis d’Epidémiologie et de Santé Publique (E. Januel), Département de Santé Publique; Département de Neurologie (E. Januel), Hôpital Pitié Salpêtrière, AP-HP, Paris; Pediatrics Department (E. Jeziorski), Montpellier University Hospital; Department of Internal Medicine (V.S.), Amiens University Medical Center; Internal Medicine Department (J.-F.V.), Bordeaux University Hospital Centre, Hôpital Haut-Lévêque, Pessac; Clinical Immunology Department (D.B., C.F.), National Reference Center for Castleman Disease; UMR 1149 CRI INSERM (D.B.), Hôpital Saint Louis, Assistance Publique Hôpitaux de Paris (APHP); Université Paris Diderot (D.B., C.F.); Inserm U1126 (C.F.), Centre Hayem, Hôpital Saint-Louis; Internal Medicine Department (D.G.), Hôpital Saint Antoine, APHP, Paris; Pediatric Oncology Hematology Unit (N.A.), Bordeaux University Hospital; Plurithématique CIC (CICP) (N.A.), Centre d'Investigation Clinique (CIC) 1401, INSERM; Centre de Référence National des Cytopénies Autoimmunes de l'Enfant (CEREVANCE) (N.A.), Bordeaux; Department of Internal Medicine (J.G.), Saint-Nazaire Hospital; Department of Internal Medicine (M.P.-J.), Purpan University Hospital, Toulouse; Department of Hematology (F.S.), Necker-Enfants Malades University Hospital, AP-HP; INSERM UMR 1163 and CNRS ERL 8254 (F.S.), Imagine Institut; Descartes University (F.S., B.N.); Pediatric Hematology-Immunology and Rheumatology Department (B.N., N.M.), Hôpital Necker-Enfants Malades, AP-HP; Laboratory of Immunogenetics of Pediatric Autoimmunity (B.N.), INSERM UMR 1163, Imagine Institute; and French National Reference Center for Primary Immune Deficiencies (CEREDIH) (N.M.), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
MD, PhDValery Salle
From the Department of Internal Medicine and Multi-Organic Diseases (C.C., P.G., P.R.), Local Referral Center for Rare Autoimmune Diseases, Montpellier University Hospital; University of Montpellier (C.C., R.G., P.L., P.G., E. Jeziorski, X.A.); Internal Medicine Department (R.G.), CHU Nîmes; Department of Neurology (P.L., C.C.-D., X.A.), Montpellier University Hospital; INM (P.L., X.A.), INSERM; Institute of Regenerative Medicine and Biotherapy (P.G.), INSERM U1183, Montpellier; Sorbonne Université (E. Januel); Institut Pierre Louis d’Epidémiologie et de Santé Publique (E. Januel), Département de Santé Publique; Département de Neurologie (E. Januel), Hôpital Pitié Salpêtrière, AP-HP, Paris; Pediatrics Department (E. Jeziorski), Montpellier University Hospital; Department of Internal Medicine (V.S.), Amiens University Medical Center; Internal Medicine Department (J.-F.V.), Bordeaux University Hospital Centre, Hôpital Haut-Lévêque, Pessac; Clinical Immunology Department (D.B., C.F.), National Reference Center for Castleman Disease; UMR 1149 CRI INSERM (D.B.), Hôpital Saint Louis, Assistance Publique Hôpitaux de Paris (APHP); Université Paris Diderot (D.B., C.F.); Inserm U1126 (C.F.), Centre Hayem, Hôpital Saint-Louis; Internal Medicine Department (D.G.), Hôpital Saint Antoine, APHP, Paris; Pediatric Oncology Hematology Unit (N.A.), Bordeaux University Hospital; Plurithématique CIC (CICP) (N.A.), Centre d'Investigation Clinique (CIC) 1401, INSERM; Centre de Référence National des Cytopénies Autoimmunes de l'Enfant (CEREVANCE) (N.A.), Bordeaux; Department of Internal Medicine (J.G.), Saint-Nazaire Hospital; Department of Internal Medicine (M.P.-J.), Purpan University Hospital, Toulouse; Department of Hematology (F.S.), Necker-Enfants Malades University Hospital, AP-HP; INSERM UMR 1163 and CNRS ERL 8254 (F.S.), Imagine Institut; Descartes University (F.S., B.N.); Pediatric Hematology-Immunology and Rheumatology Department (B.N., N.M.), Hôpital Necker-Enfants Malades, AP-HP; Laboratory of Immunogenetics of Pediatric Autoimmunity (B.N.), INSERM UMR 1163, Imagine Institute; and French National Reference Center for Primary Immune Deficiencies (CEREDIH) (N.M.), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
MDJean-François Viallard
From the Department of Internal Medicine and Multi-Organic Diseases (C.C., P.G., P.R.), Local Referral Center for Rare Autoimmune Diseases, Montpellier University Hospital; University of Montpellier (C.C., R.G., P.L., P.G., E. Jeziorski, X.A.); Internal Medicine Department (R.G.), CHU Nîmes; Department of Neurology (P.L., C.C.-D., X.A.), Montpellier University Hospital; INM (P.L., X.A.), INSERM; Institute of Regenerative Medicine and Biotherapy (P.G.), INSERM U1183, Montpellier; Sorbonne Université (E. Januel); Institut Pierre Louis d’Epidémiologie et de Santé Publique (E. Januel), Département de Santé Publique; Département de Neurologie (E. Januel), Hôpital Pitié Salpêtrière, AP-HP, Paris; Pediatrics Department (E. Jeziorski), Montpellier University Hospital; Department of Internal Medicine (V.S.), Amiens University Medical Center; Internal Medicine Department (J.-F.V.), Bordeaux University Hospital Centre, Hôpital Haut-Lévêque, Pessac; Clinical Immunology Department (D.B., C.F.), National Reference Center for Castleman Disease; UMR 1149 CRI INSERM (D.B.), Hôpital Saint Louis, Assistance Publique Hôpitaux de Paris (APHP); Université Paris Diderot (D.B., C.F.); Inserm U1126 (C.F.), Centre Hayem, Hôpital Saint-Louis; Internal Medicine Department (D.G.), Hôpital Saint Antoine, APHP, Paris; Pediatric Oncology Hematology Unit (N.A.), Bordeaux University Hospital; Plurithématique CIC (CICP) (N.A.), Centre d'Investigation Clinique (CIC) 1401, INSERM; Centre de Référence National des Cytopénies Autoimmunes de l'Enfant (CEREVANCE) (N.A.), Bordeaux; Department of Internal Medicine (J.G.), Saint-Nazaire Hospital; Department of Internal Medicine (M.P.-J.), Purpan University Hospital, Toulouse; Department of Hematology (F.S.), Necker-Enfants Malades University Hospital, AP-HP; INSERM UMR 1163 and CNRS ERL 8254 (F.S.), Imagine Institut; Descartes University (F.S., B.N.); Pediatric Hematology-Immunology and Rheumatology Department (B.N., N.M.), Hôpital Necker-Enfants Malades, AP-HP; Laboratory of Immunogenetics of Pediatric Autoimmunity (B.N.), INSERM UMR 1163, Imagine Institute; and French National Reference Center for Primary Immune Deficiencies (CEREDIH) (N.M.), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
MD, PhDDavid Boutboul
From the Department of Internal Medicine and Multi-Organic Diseases (C.C., P.G., P.R.), Local Referral Center for Rare Autoimmune Diseases, Montpellier University Hospital; University of Montpellier (C.C., R.G., P.L., P.G., E. Jeziorski, X.A.); Internal Medicine Department (R.G.), CHU Nîmes; Department of Neurology (P.L., C.C.-D., X.A.), Montpellier University Hospital; INM (P.L., X.A.), INSERM; Institute of Regenerative Medicine and Biotherapy (P.G.), INSERM U1183, Montpellier; Sorbonne Université (E. Januel); Institut Pierre Louis d’Epidémiologie et de Santé Publique (E. Januel), Département de Santé Publique; Département de Neurologie (E. Januel), Hôpital Pitié Salpêtrière, AP-HP, Paris; Pediatrics Department (E. Jeziorski), Montpellier University Hospital; Department of Internal Medicine (V.S.), Amiens University Medical Center; Internal Medicine Department (J.-F.V.), Bordeaux University Hospital Centre, Hôpital Haut-Lévêque, Pessac; Clinical Immunology Department (D.B., C.F.), National Reference Center for Castleman Disease; UMR 1149 CRI INSERM (D.B.), Hôpital Saint Louis, Assistance Publique Hôpitaux de Paris (APHP); Université Paris Diderot (D.B., C.F.); Inserm U1126 (C.F.), Centre Hayem, Hôpital Saint-Louis; Internal Medicine Department (D.G.), Hôpital Saint Antoine, APHP, Paris; Pediatric Oncology Hematology Unit (N.A.), Bordeaux University Hospital; Plurithématique CIC (CICP) (N.A.), Centre d'Investigation Clinique (CIC) 1401, INSERM; Centre de Référence National des Cytopénies Autoimmunes de l'Enfant (CEREVANCE) (N.A.), Bordeaux; Department of Internal Medicine (J.G.), Saint-Nazaire Hospital; Department of Internal Medicine (M.P.-J.), Purpan University Hospital, Toulouse; Department of Hematology (F.S.), Necker-Enfants Malades University Hospital, AP-HP; INSERM UMR 1163 and CNRS ERL 8254 (F.S.), Imagine Institut; Descartes University (F.S., B.N.); Pediatric Hematology-Immunology and Rheumatology Department (B.N., N.M.), Hôpital Necker-Enfants Malades, AP-HP; Laboratory of Immunogenetics of Pediatric Autoimmunity (B.N.), INSERM UMR 1163, Imagine Institute; and French National Reference Center for Primary Immune Deficiencies (CEREDIH) (N.M.), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
MDClaire Fieschi
From the Department of Internal Medicine and Multi-Organic Diseases (C.C., P.G., P.R.), Local Referral Center for Rare Autoimmune Diseases, Montpellier University Hospital; University of Montpellier (C.C., R.G., P.L., P.G., E. Jeziorski, X.A.); Internal Medicine Department (R.G.), CHU Nîmes; Department of Neurology (P.L., C.C.-D., X.A.), Montpellier University Hospital; INM (P.L., X.A.), INSERM; Institute of Regenerative Medicine and Biotherapy (P.G.), INSERM U1183, Montpellier; Sorbonne Université (E. Januel); Institut Pierre Louis d’Epidémiologie et de Santé Publique (E. Januel), Département de Santé Publique; Département de Neurologie (E. Januel), Hôpital Pitié Salpêtrière, AP-HP, Paris; Pediatrics Department (E. Jeziorski), Montpellier University Hospital; Department of Internal Medicine (V.S.), Amiens University Medical Center; Internal Medicine Department (J.-F.V.), Bordeaux University Hospital Centre, Hôpital Haut-Lévêque, Pessac; Clinical Immunology Department (D.B., C.F.), National Reference Center for Castleman Disease; UMR 1149 CRI INSERM (D.B.), Hôpital Saint Louis, Assistance Publique Hôpitaux de Paris (APHP); Université Paris Diderot (D.B., C.F.); Inserm U1126 (C.F.), Centre Hayem, Hôpital Saint-Louis; Internal Medicine Department (D.G.), Hôpital Saint Antoine, APHP, Paris; Pediatric Oncology Hematology Unit (N.A.), Bordeaux University Hospital; Plurithématique CIC (CICP) (N.A.), Centre d'Investigation Clinique (CIC) 1401, INSERM; Centre de Référence National des Cytopénies Autoimmunes de l'Enfant (CEREVANCE) (N.A.), Bordeaux; Department of Internal Medicine (J.G.), Saint-Nazaire Hospital; Department of Internal Medicine (M.P.-J.), Purpan University Hospital, Toulouse; Department of Hematology (F.S.), Necker-Enfants Malades University Hospital, AP-HP; INSERM UMR 1163 and CNRS ERL 8254 (F.S.), Imagine Institut; Descartes University (F.S., B.N.); Pediatric Hematology-Immunology and Rheumatology Department (B.N., N.M.), Hôpital Necker-Enfants Malades, AP-HP; Laboratory of Immunogenetics of Pediatric Autoimmunity (B.N.), INSERM UMR 1163, Imagine Institute; and French National Reference Center for Primary Immune Deficiencies (CEREDIH) (N.M.), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
MD, PhDDelphine Gobert
From the Department of Internal Medicine and Multi-Organic Diseases (C.C., P.G., P.R.), Local Referral Center for Rare Autoimmune Diseases, Montpellier University Hospital; University of Montpellier (C.C., R.G., P.L., P.G., E. Jeziorski, X.A.); Internal Medicine Department (R.G.), CHU Nîmes; Department of Neurology (P.L., C.C.-D., X.A.), Montpellier University Hospital; INM (P.L., X.A.), INSERM; Institute of Regenerative Medicine and Biotherapy (P.G.), INSERM U1183, Montpellier; Sorbonne Université (E. Januel); Institut Pierre Louis d’Epidémiologie et de Santé Publique (E. Januel), Département de Santé Publique; Département de Neurologie (E. Januel), Hôpital Pitié Salpêtrière, AP-HP, Paris; Pediatrics Department (E. Jeziorski), Montpellier University Hospital; Department of Internal Medicine (V.S.), Amiens University Medical Center; Internal Medicine Department (J.-F.V.), Bordeaux University Hospital Centre, Hôpital Haut-Lévêque, Pessac; Clinical Immunology Department (D.B., C.F.), National Reference Center for Castleman Disease; UMR 1149 CRI INSERM (D.B.), Hôpital Saint Louis, Assistance Publique Hôpitaux de Paris (APHP); Université Paris Diderot (D.B., C.F.); Inserm U1126 (C.F.), Centre Hayem, Hôpital Saint-Louis; Internal Medicine Department (D.G.), Hôpital Saint Antoine, APHP, Paris; Pediatric Oncology Hematology Unit (N.A.), Bordeaux University Hospital; Plurithématique CIC (CICP) (N.A.), Centre d'Investigation Clinique (CIC) 1401, INSERM; Centre de Référence National des Cytopénies Autoimmunes de l'Enfant (CEREVANCE) (N.A.), Bordeaux; Department of Internal Medicine (J.G.), Saint-Nazaire Hospital; Department of Internal Medicine (M.P.-J.), Purpan University Hospital, Toulouse; Department of Hematology (F.S.), Necker-Enfants Malades University Hospital, AP-HP; INSERM UMR 1163 and CNRS ERL 8254 (F.S.), Imagine Institut; Descartes University (F.S., B.N.); Pediatric Hematology-Immunology and Rheumatology Department (B.N., N.M.), Hôpital Necker-Enfants Malades, AP-HP; Laboratory of Immunogenetics of Pediatric Autoimmunity (B.N.), INSERM UMR 1163, Imagine Institute; and French National Reference Center for Primary Immune Deficiencies (CEREDIH) (N.M.), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
MDNathalie Aladjidi
From the Department of Internal Medicine and Multi-Organic Diseases (C.C., P.G., P.R.), Local Referral Center for Rare Autoimmune Diseases, Montpellier University Hospital; University of Montpellier (C.C., R.G., P.L., P.G., E. Jeziorski, X.A.); Internal Medicine Department (R.G.), CHU Nîmes; Department of Neurology (P.L., C.C.-D., X.A.), Montpellier University Hospital; INM (P.L., X.A.), INSERM; Institute of Regenerative Medicine and Biotherapy (P.G.), INSERM U1183, Montpellier; Sorbonne Université (E. Januel); Institut Pierre Louis d’Epidémiologie et de Santé Publique (E. Januel), Département de Santé Publique; Département de Neurologie (E. Januel), Hôpital Pitié Salpêtrière, AP-HP, Paris; Pediatrics Department (E. Jeziorski), Montpellier University Hospital; Department of Internal Medicine (V.S.), Amiens University Medical Center; Internal Medicine Department (J.-F.V.), Bordeaux University Hospital Centre, Hôpital Haut-Lévêque, Pessac; Clinical Immunology Department (D.B., C.F.), National Reference Center for Castleman Disease; UMR 1149 CRI INSERM (D.B.), Hôpital Saint Louis, Assistance Publique Hôpitaux de Paris (APHP); Université Paris Diderot (D.B., C.F.); Inserm U1126 (C.F.), Centre Hayem, Hôpital Saint-Louis; Internal Medicine Department (D.G.), Hôpital Saint Antoine, APHP, Paris; Pediatric Oncology Hematology Unit (N.A.), Bordeaux University Hospital; Plurithématique CIC (CICP) (N.A.), Centre d'Investigation Clinique (CIC) 1401, INSERM; Centre de Référence National des Cytopénies Autoimmunes de l'Enfant (CEREVANCE) (N.A.), Bordeaux; Department of Internal Medicine (J.G.), Saint-Nazaire Hospital; Department of Internal Medicine (M.P.-J.), Purpan University Hospital, Toulouse; Department of Hematology (F.S.), Necker-Enfants Malades University Hospital, AP-HP; INSERM UMR 1163 and CNRS ERL 8254 (F.S.), Imagine Institut; Descartes University (F.S., B.N.); Pediatric Hematology-Immunology and Rheumatology Department (B.N., N.M.), Hôpital Necker-Enfants Malades, AP-HP; Laboratory of Immunogenetics of Pediatric Autoimmunity (B.N.), INSERM UMR 1163, Imagine Institute; and French National Reference Center for Primary Immune Deficiencies (CEREDIH) (N.M.), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
MDPatricia Rullier
From the Department of Internal Medicine and Multi-Organic Diseases (C.C., P.G., P.R.), Local Referral Center for Rare Autoimmune Diseases, Montpellier University Hospital; University of Montpellier (C.C., R.G., P.L., P.G., E. Jeziorski, X.A.); Internal Medicine Department (R.G.), CHU Nîmes; Department of Neurology (P.L., C.C.-D., X.A.), Montpellier University Hospital; INM (P.L., X.A.), INSERM; Institute of Regenerative Medicine and Biotherapy (P.G.), INSERM U1183, Montpellier; Sorbonne Université (E. Januel); Institut Pierre Louis d’Epidémiologie et de Santé Publique (E. Januel), Département de Santé Publique; Département de Neurologie (E. Januel), Hôpital Pitié Salpêtrière, AP-HP, Paris; Pediatrics Department (E. Jeziorski), Montpellier University Hospital; Department of Internal Medicine (V.S.), Amiens University Medical Center; Internal Medicine Department (J.-F.V.), Bordeaux University Hospital Centre, Hôpital Haut-Lévêque, Pessac; Clinical Immunology Department (D.B., C.F.), National Reference Center for Castleman Disease; UMR 1149 CRI INSERM (D.B.), Hôpital Saint Louis, Assistance Publique Hôpitaux de Paris (APHP); Université Paris Diderot (D.B., C.F.); Inserm U1126 (C.F.), Centre Hayem, Hôpital Saint-Louis; Internal Medicine Department (D.G.), Hôpital Saint Antoine, APHP, Paris; Pediatric Oncology Hematology Unit (N.A.), Bordeaux University Hospital; Plurithématique CIC (CICP) (N.A.), Centre d'Investigation Clinique (CIC) 1401, INSERM; Centre de Référence National des Cytopénies Autoimmunes de l'Enfant (CEREVANCE) (N.A.), Bordeaux; Department of Internal Medicine (J.G.), Saint-Nazaire Hospital; Department of Internal Medicine (M.P.-J.), Purpan University Hospital, Toulouse; Department of Hematology (F.S.), Necker-Enfants Malades University Hospital, AP-HP; INSERM UMR 1163 and CNRS ERL 8254 (F.S.), Imagine Institut; Descartes University (F.S., B.N.); Pediatric Hematology-Immunology and Rheumatology Department (B.N., N.M.), Hôpital Necker-Enfants Malades, AP-HP; Laboratory of Immunogenetics of Pediatric Autoimmunity (B.N.), INSERM UMR 1163, Imagine Institute; and French National Reference Center for Primary Immune Deficiencies (CEREDIH) (N.M.), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
MDJulie Graveleau
From the Department of Internal Medicine and Multi-Organic Diseases (C.C., P.G., P.R.), Local Referral Center for Rare Autoimmune Diseases, Montpellier University Hospital; University of Montpellier (C.C., R.G., P.L., P.G., E. Jeziorski, X.A.); Internal Medicine Department (R.G.), CHU Nîmes; Department of Neurology (P.L., C.C.-D., X.A.), Montpellier University Hospital; INM (P.L., X.A.), INSERM; Institute of Regenerative Medicine and Biotherapy (P.G.), INSERM U1183, Montpellier; Sorbonne Université (E. Januel); Institut Pierre Louis d’Epidémiologie et de Santé Publique (E. Januel), Département de Santé Publique; Département de Neurologie (E. Januel), Hôpital Pitié Salpêtrière, AP-HP, Paris; Pediatrics Department (E. Jeziorski), Montpellier University Hospital; Department of Internal Medicine (V.S.), Amiens University Medical Center; Internal Medicine Department (J.-F.V.), Bordeaux University Hospital Centre, Hôpital Haut-Lévêque, Pessac; Clinical Immunology Department (D.B., C.F.), National Reference Center for Castleman Disease; UMR 1149 CRI INSERM (D.B.), Hôpital Saint Louis, Assistance Publique Hôpitaux de Paris (APHP); Université Paris Diderot (D.B., C.F.); Inserm U1126 (C.F.), Centre Hayem, Hôpital Saint-Louis; Internal Medicine Department (D.G.), Hôpital Saint Antoine, APHP, Paris; Pediatric Oncology Hematology Unit (N.A.), Bordeaux University Hospital; Plurithématique CIC (CICP) (N.A.), Centre d'Investigation Clinique (CIC) 1401, INSERM; Centre de Référence National des Cytopénies Autoimmunes de l'Enfant (CEREVANCE) (N.A.), Bordeaux; Department of Internal Medicine (J.G.), Saint-Nazaire Hospital; Department of Internal Medicine (M.P.-J.), Purpan University Hospital, Toulouse; Department of Hematology (F.S.), Necker-Enfants Malades University Hospital, AP-HP; INSERM UMR 1163 and CNRS ERL 8254 (F.S.), Imagine Institut; Descartes University (F.S., B.N.); Pediatric Hematology-Immunology and Rheumatology Department (B.N., N.M.), Hôpital Necker-Enfants Malades, AP-HP; Laboratory of Immunogenetics of Pediatric Autoimmunity (B.N.), INSERM UMR 1163, Imagine Institute; and French National Reference Center for Primary Immune Deficiencies (CEREDIH) (N.M.), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
MDMarie Piel-Julian
From the Department of Internal Medicine and Multi-Organic Diseases (C.C., P.G., P.R.), Local Referral Center for Rare Autoimmune Diseases, Montpellier University Hospital; University of Montpellier (C.C., R.G., P.L., P.G., E. Jeziorski, X.A.); Internal Medicine Department (R.G.), CHU Nîmes; Department of Neurology (P.L., C.C.-D., X.A.), Montpellier University Hospital; INM (P.L., X.A.), INSERM; Institute of Regenerative Medicine and Biotherapy (P.G.), INSERM U1183, Montpellier; Sorbonne Université (E. Januel); Institut Pierre Louis d’Epidémiologie et de Santé Publique (E. Januel), Département de Santé Publique; Département de Neurologie (E. Januel), Hôpital Pitié Salpêtrière, AP-HP, Paris; Pediatrics Department (E. Jeziorski), Montpellier University Hospital; Department of Internal Medicine (V.S.), Amiens University Medical Center; Internal Medicine Department (J.-F.V.), Bordeaux University Hospital Centre, Hôpital Haut-Lévêque, Pessac; Clinical Immunology Department (D.B., C.F.), National Reference Center for Castleman Disease; UMR 1149 CRI INSERM (D.B.), Hôpital Saint Louis, Assistance Publique Hôpitaux de Paris (APHP); Université Paris Diderot (D.B., C.F.); Inserm U1126 (C.F.), Centre Hayem, Hôpital Saint-Louis; Internal Medicine Department (D.G.), Hôpital Saint Antoine, APHP, Paris; Pediatric Oncology Hematology Unit (N.A.), Bordeaux University Hospital; Plurithématique CIC (CICP) (N.A.), Centre d'Investigation Clinique (CIC) 1401, INSERM; Centre de Référence National des Cytopénies Autoimmunes de l'Enfant (CEREVANCE) (N.A.), Bordeaux; Department of Internal Medicine (J.G.), Saint-Nazaire Hospital; Department of Internal Medicine (M.P.-J.), Purpan University Hospital, Toulouse; Department of Hematology (F.S.), Necker-Enfants Malades University Hospital, AP-HP; INSERM UMR 1163 and CNRS ERL 8254 (F.S.), Imagine Institut; Descartes University (F.S., B.N.); Pediatric Hematology-Immunology and Rheumatology Department (B.N., N.M.), Hôpital Necker-Enfants Malades, AP-HP; Laboratory of Immunogenetics of Pediatric Autoimmunity (B.N.), INSERM UMR 1163, Imagine Institute; and French National Reference Center for Primary Immune Deficiencies (CEREDIH) (N.M.), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
MDFelipe Suarez
From the Department of Internal Medicine and Multi-Organic Diseases (C.C., P.G., P.R.), Local Referral Center for Rare Autoimmune Diseases, Montpellier University Hospital; University of Montpellier (C.C., R.G., P.L., P.G., E. Jeziorski, X.A.); Internal Medicine Department (R.G.), CHU Nîmes; Department of Neurology (P.L., C.C.-D., X.A.), Montpellier University Hospital; INM (P.L., X.A.), INSERM; Institute of Regenerative Medicine and Biotherapy (P.G.), INSERM U1183, Montpellier; Sorbonne Université (E. Januel); Institut Pierre Louis d’Epidémiologie et de Santé Publique (E. Januel), Département de Santé Publique; Département de Neurologie (E. Januel), Hôpital Pitié Salpêtrière, AP-HP, Paris; Pediatrics Department (E. Jeziorski), Montpellier University Hospital; Department of Internal Medicine (V.S.), Amiens University Medical Center; Internal Medicine Department (J.-F.V.), Bordeaux University Hospital Centre, Hôpital Haut-Lévêque, Pessac; Clinical Immunology Department (D.B., C.F.), National Reference Center for Castleman Disease; UMR 1149 CRI INSERM (D.B.), Hôpital Saint Louis, Assistance Publique Hôpitaux de Paris (APHP); Université Paris Diderot (D.B., C.F.); Inserm U1126 (C.F.), Centre Hayem, Hôpital Saint-Louis; Internal Medicine Department (D.G.), Hôpital Saint Antoine, APHP, Paris; Pediatric Oncology Hematology Unit (N.A.), Bordeaux University Hospital; Plurithématique CIC (CICP) (N.A.), Centre d'Investigation Clinique (CIC) 1401, INSERM; Centre de Référence National des Cytopénies Autoimmunes de l'Enfant (CEREVANCE) (N.A.), Bordeaux; Department of Internal Medicine (J.G.), Saint-Nazaire Hospital; Department of Internal Medicine (M.P.-J.), Purpan University Hospital, Toulouse; Department of Hematology (F.S.), Necker-Enfants Malades University Hospital, AP-HP; INSERM UMR 1163 and CNRS ERL 8254 (F.S.), Imagine Institut; Descartes University (F.S., B.N.); Pediatric Hematology-Immunology and Rheumatology Department (B.N., N.M.), Hôpital Necker-Enfants Malades, AP-HP; Laboratory of Immunogenetics of Pediatric Autoimmunity (B.N.), INSERM UMR 1163, Imagine Institute; and French National Reference Center for Primary Immune Deficiencies (CEREDIH) (N.M.), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
MD, PhDBenedicte Neven
From the Department of Internal Medicine and Multi-Organic Diseases (C.C., P.G., P.R.), Local Referral Center for Rare Autoimmune Diseases, Montpellier University Hospital; University of Montpellier (C.C., R.G., P.L., P.G., E. Jeziorski, X.A.); Internal Medicine Department (R.G.), CHU Nîmes; Department of Neurology (P.L., C.C.-D., X.A.), Montpellier University Hospital; INM (P.L., X.A.), INSERM; Institute of Regenerative Medicine and Biotherapy (P.G.), INSERM U1183, Montpellier; Sorbonne Université (E. Januel); Institut Pierre Louis d’Epidémiologie et de Santé Publique (E. Januel), Département de Santé Publique; Département de Neurologie (E. Januel), Hôpital Pitié Salpêtrière, AP-HP, Paris; Pediatrics Department (E. Jeziorski), Montpellier University Hospital; Department of Internal Medicine (V.S.), Amiens University Medical Center; Internal Medicine Department (J.-F.V.), Bordeaux University Hospital Centre, Hôpital Haut-Lévêque, Pessac; Clinical Immunology Department (D.B., C.F.), National Reference Center for Castleman Disease; UMR 1149 CRI INSERM (D.B.), Hôpital Saint Louis, Assistance Publique Hôpitaux de Paris (APHP); Université Paris Diderot (D.B., C.F.); Inserm U1126 (C.F.), Centre Hayem, Hôpital Saint-Louis; Internal Medicine Department (D.G.), Hôpital Saint Antoine, APHP, Paris; Pediatric Oncology Hematology Unit (N.A.), Bordeaux University Hospital; Plurithématique CIC (CICP) (N.A.), Centre d'Investigation Clinique (CIC) 1401, INSERM; Centre de Référence National des Cytopénies Autoimmunes de l'Enfant (CEREVANCE) (N.A.), Bordeaux; Department of Internal Medicine (J.G.), Saint-Nazaire Hospital; Department of Internal Medicine (M.P.-J.), Purpan University Hospital, Toulouse; Department of Hematology (F.S.), Necker-Enfants Malades University Hospital, AP-HP; INSERM UMR 1163 and CNRS ERL 8254 (F.S.), Imagine Institut; Descartes University (F.S., B.N.); Pediatric Hematology-Immunology and Rheumatology Department (B.N., N.M.), Hôpital Necker-Enfants Malades, AP-HP; Laboratory of Immunogenetics of Pediatric Autoimmunity (B.N.), INSERM UMR 1163, Imagine Institute; and French National Reference Center for Primary Immune Deficiencies (CEREDIH) (N.M.), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
MD, PhDNizar Mahlaoui
From the Department of Internal Medicine and Multi-Organic Diseases (C.C., P.G., P.R.), Local Referral Center for Rare Autoimmune Diseases, Montpellier University Hospital; University of Montpellier (C.C., R.G., P.L., P.G., E. Jeziorski, X.A.); Internal Medicine Department (R.G.), CHU Nîmes; Department of Neurology (P.L., C.C.-D., X.A.), Montpellier University Hospital; INM (P.L., X.A.), INSERM; Institute of Regenerative Medicine and Biotherapy (P.G.), INSERM U1183, Montpellier; Sorbonne Université (E. Januel); Institut Pierre Louis d’Epidémiologie et de Santé Publique (E. Januel), Département de Santé Publique; Département de Neurologie (E. Januel), Hôpital Pitié Salpêtrière, AP-HP, Paris; Pediatrics Department (E. Jeziorski), Montpellier University Hospital; Department of Internal Medicine (V.S.), Amiens University Medical Center; Internal Medicine Department (J.-F.V.), Bordeaux University Hospital Centre, Hôpital Haut-Lévêque, Pessac; Clinical Immunology Department (D.B., C.F.), National Reference Center for Castleman Disease; UMR 1149 CRI INSERM (D.B.), Hôpital Saint Louis, Assistance Publique Hôpitaux de Paris (APHP); Université Paris Diderot (D.B., C.F.); Inserm U1126 (C.F.), Centre Hayem, Hôpital Saint-Louis; Internal Medicine Department (D.G.), Hôpital Saint Antoine, APHP, Paris; Pediatric Oncology Hematology Unit (N.A.), Bordeaux University Hospital; Plurithématique CIC (CICP) (N.A.), Centre d'Investigation Clinique (CIC) 1401, INSERM; Centre de Référence National des Cytopénies Autoimmunes de l'Enfant (CEREVANCE) (N.A.), Bordeaux; Department of Internal Medicine (J.G.), Saint-Nazaire Hospital; Department of Internal Medicine (M.P.-J.), Purpan University Hospital, Toulouse; Department of Hematology (F.S.), Necker-Enfants Malades University Hospital, AP-HP; INSERM UMR 1163 and CNRS ERL 8254 (F.S.), Imagine Institut; Descartes University (F.S., B.N.); Pediatric Hematology-Immunology and Rheumatology Department (B.N., N.M.), Hôpital Necker-Enfants Malades, AP-HP; Laboratory of Immunogenetics of Pediatric Autoimmunity (B.N.), INSERM UMR 1163, Imagine Institute; and French National Reference Center for Primary Immune Deficiencies (CEREDIH) (N.M.), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
MDXavier Ayrignac
From the Department of Internal Medicine and Multi-Organic Diseases (C.C., P.G., P.R.), Local Referral Center for Rare Autoimmune Diseases, Montpellier University Hospital; University of Montpellier (C.C., R.G., P.L., P.G., E. Jeziorski, X.A.); Internal Medicine Department (R.G.), CHU Nîmes; Department of Neurology (P.L., C.C.-D., X.A.), Montpellier University Hospital; INM (P.L., X.A.), INSERM; Institute of Regenerative Medicine and Biotherapy (P.G.), INSERM U1183, Montpellier; Sorbonne Université (E. Januel); Institut Pierre Louis d’Epidémiologie et de Santé Publique (E. Januel), Département de Santé Publique; Département de Neurologie (E. Januel), Hôpital Pitié Salpêtrière, AP-HP, Paris; Pediatrics Department (E. Jeziorski), Montpellier University Hospital; Department of Internal Medicine (V.S.), Amiens University Medical Center; Internal Medicine Department (J.-F.V.), Bordeaux University Hospital Centre, Hôpital Haut-Lévêque, Pessac; Clinical Immunology Department (D.B., C.F.), National Reference Center for Castleman Disease; UMR 1149 CRI INSERM (D.B.), Hôpital Saint Louis, Assistance Publique Hôpitaux de Paris (APHP); Université Paris Diderot (D.B., C.F.); Inserm U1126 (C.F.), Centre Hayem, Hôpital Saint-Louis; Internal Medicine Department (D.G.), Hôpital Saint Antoine, APHP, Paris; Pediatric Oncology Hematology Unit (N.A.), Bordeaux University Hospital; Plurithématique CIC (CICP) (N.A.), Centre d'Investigation Clinique (CIC) 1401, INSERM; Centre de Référence National des Cytopénies Autoimmunes de l'Enfant (CEREVANCE) (N.A.), Bordeaux; Department of Internal Medicine (J.G.), Saint-Nazaire Hospital; Department of Internal Medicine (M.P.-J.), Purpan University Hospital, Toulouse; Department of Hematology (F.S.), Necker-Enfants Malades University Hospital, AP-HP; INSERM UMR 1163 and CNRS ERL 8254 (F.S.), Imagine Institut; Descartes University (F.S., B.N.); Pediatric Hematology-Immunology and Rheumatology Department (B.N., N.M.), Hôpital Necker-Enfants Malades, AP-HP; Laboratory of Immunogenetics of Pediatric Autoimmunity (B.N.), INSERM UMR 1163, Imagine Institute; and French National Reference Center for Primary Immune Deficiencies (CEREDIH) (N.M.), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
MD, PhDClinical, Radiologic, and Immunologic Features of Patients With CTLA4 Deficiency With Neurologic Involvement
Cyrille Coustal, Radjiv Goulabchand, Pierre Labauge, Philippe Guilpain, Clarisse Carra-Dallière, Edouard Januel, Eric Jeziorski, Valery Salle, Jean-François Viallard, David Boutboul, Claire Fieschi, Delphine Gobert, Nathalie Aladjidi, Patricia Rullier, Julie Graveleau, Marie Piel-Julian, Felipe Suarez, Benedicte Neven, Nizar Mahlaoui, Xavier Ayrignac
Neurology Oct 2023, 101 (15) e1560-e1566; DOI: 10.1212/WNL.0000000000207609
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Abstract
Objectives CTLA4 deficiency (CTLA4d) is a disease with multisystem autoimmune features, including neurologic manifestations. We aimed to describe neurologic involvement in these patients.
Methods We performed a cross-sectional observational study using the French Reference Centre for Primary Immunodeficiencies (CEREDIH) registry plus a surveillance in national society networks. Participants with confirmed CTLA4d and neurologic involvement were included. Clinical, laboratory, and radiologic features were collected, as well as treatments. Available MRI was double-reviewed.
Results Among 70 patients with CTLA4d, 13 patients (21%) had neurologic involvement. Neurologic symptoms began at a median age of 18 [15–45] years, mostly occurring after systemic manifestations (median delay: 8.5 [4.5–10.5] years). Main symptoms included headaches, focal deficit (54% each), and seizures (38%). MRI detected at least 1 large contrast-enhancing lesion in 8 patients. Lesions reminiscent of multiple sclerosis lesions were found in 6 patients. Cerebellar (6 patients) and large spinal cord lesions (3 patients) were common. Ten patients were treated with abatacept, of whom 9 (90%) showed good clinical and radiologic response.
Discussion Neurologic involvement is common among patients with CTLA4d. Despite its rarity, and considering the suspected efficacy of abatacept, neurologists should be aware of the characteristics of CTLA4d neurologic involvement.
Footnotes
Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
Submitted and externally peer reviewed. The handling editor was Deputy Editor Olga Ciccarelli, MD, PhD, FRCP.
- Received December 23, 2022.
- Accepted in final form May 18, 2023.
- © 2023 American Academy of Neurology
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