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Title: Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias
Authors: Zago, Claudia Augusta
Abe Jacob, Cristina Miuki
Albuquerque Diniz, Edna Maria de
Lovisolo, Silvana Maria
Nogueira Zerbini, Maria Claudia
Dorna, Mayra
Watanabe, Leticia
Fernandes, Juliana Folloni
Rocha, Vanderson
Oliveira, Joao Bosco
Carneiro-Sampaio, Magda
Universidade Federal de São Paulo (UNIFESP)
Universidade de São Paulo (USP)
Serv Immunol
Keywords: IL7R alpha deficiency
Omenn syndrome
Autoimmune cytopenias
Eosinophilic myocarditis
Primary immunodeficiencies
Issue Date: 1-Jul-2014
Publisher: Elsevier B.V.
Citation: Human Immunology. New York: Elsevier B.V., v. 75, n. 7, p. 662-666, 2014.
Abstract: B+NK+SCID (severe combined immunodeficiency) due to IL7R alpha deficiency represents approximately 10% of American SCID cases.To better understand the spectrum of autoimmune disorders associated with IL7R alpha deficiency, we describe two unrelated IL7R alpha-deficient female SCID infants whose clinical picture was dominated by autoimmune manifestations: one with intrauterine Omenn syndrome (OS) and another with persistent thrombocytopenic purpura since 4 months of age. the OS baby harbored a homozygous p.C118Y mutation in IL7R. She presented dense eosinophilic infiltrates in several organs, including pancarditis, which may have contributed to her death (on the 2nd day of life). B cells were observed in lymph nodes, spleen, bone marrow and thymus. the second patient harbored compound heterozygous p.01 8Y and p.I121NfsX8 mutations. She underwent a successful unrelated cord blood transplant.In conclusion, early OS can be observed in patients with IL7R mutations, and autoimmune cytopenias could also complicate the clinical course of SCID babies with this type of defect. (C) 2014 Published by Elsevier Inc. on behalf of American Society for Histocompatibility and Immunogenetics.
ISSN: 0198-8859
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