Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias

Autor(es):Mostrar menos -

Zago, Claudia Augusta ^[1] ; Abe Jacob, Cristina Miuki ^[1] ; de Albuquerque Diniz, Edna Maria ^{[1, 2]} ; Lovisolo, Silvana Maria ^[2] ; Nogueira Zerbini, Maria Claudia ^[2] ; Dorna, Mayra ^[1] ; Watanabe, Leticia ^[1] ; Fernandes, Juliana Folloni ^[1] ; Rocha, Vanderson ^[1] ; Oliveira, Joao Bosco ^[3] ; Carneiro-Sampaio, Magda ^[1]

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Fac Med, Dept Pediat, BR-05403900 Sao Paulo - Brazil

^[2] Univ Sao Paulo, Hosp Univ HU, BR-05403900 Sao Paulo - Brazil

^[3] Serv Immunol, NIH, Bethesda, MD - USA

• Tipo de documento: Artigo Científico
• Fonte: HUMAN IMMUNOLOGY; v. 75, n. 7, p. 662-666, JUL 2014.
• Citações Web of Science: 7

Resumo

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. (AU)

• Processo FAPESP: 08/58238-4 - Autoimunidade na criança: investigação das bases moleculares e celulares da autoimunidade de início precoce
• Beneficiário: Magda Maria Sales Carneiro-Sampaio
• Modalidade de apoio: Auxílio à Pesquisa - Temático
• Processo FAPESP: 09/53864-7 - EMU: plataforma de citometria de fluxo para implementação da investigação no Instituto da Criança do HC-FMUSP e no Instituto do Tratamento do Câncer Infantil (ITACI)
• Beneficiário: Magda Maria Sales Carneiro-Sampaio
• Modalidade de apoio: Auxílio à Pesquisa - Programa Equipamentos Multiusuários