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

Human immunology - 1 Jul 2014

Zago Claudia Augusta, Jacob Cristina Miuki Abe, de Albuquerque Diniz Edna Maria, Lovisolo Silvana Maria, Zerbini Maria Claudia Nogueira, Dorna Mayra, Watanabe Letícia, Fernandes Juliana Folloni, Rocha Vanderson, Oliveira João Bosco, Carneiro-Sampaio Magda

Abstract excerpt

B+NK+SCID (severe combined immunodeficiency) due to IL7Rα deficiency represents approximately 10% of American SCID cases. To better understand the spectrum of autoimmune disorders associated with IL7Rα deficiency, we describe two unrelated IL7Rα-deficient female SCID infants whose clinical picture was dominated by autoimmune manifestations: one with intrauterine Omenn syndrome (OS) and another with persistent...

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PMID: 24759676
DOI: 10.1016/j.humimm.2014.04.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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