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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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Author(s):
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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]
Total Authors: 11
Affiliation:
[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
Total Affiliations: 3
Document type: Journal article
Source: HUMAN IMMUNOLOGY; v. 75, n. 7, p. 662-666, JUL 2014.
Web of Science Citations: 7
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. (AU)

FAPESP's process: 08/58238-4 - Autoimmunity in children: investigation of the molecular and cellular bases of early onset of autoimmunity
Grantee:Magda Maria Sales Carneiro-Sampaio
Support Opportunities: Research Projects - Thematic Grants
FAPESP's process: 09/53864-7 - Flow cytometry for the Children’s Hospital and the Institute for Treatment of Childhood Cancer at the University of São Paulo School of Medicine (FM USP)
Grantee:Magda Maria Sales Carneiro-Sampaio
Support Opportunities: Multi-user Equipment Program