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Article

Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome.

Blood - 1 Sept 2008

Wada Taizo, Yasui Masahiro, Toma Tomoko, Nakayama Yuko, Nishida Mika, Shimizu Masaki, Okajima Michiko, Kasahara Yoshihito, Koizumi Shoichi, Inoue Masami, Kawa Keisei, Yachie Akihiro

Abstract excerpt

X-linked severe combined immunodeficiency (XSCID) is caused by mutations of the common gamma chain (gammac) and usually characterized by the absence of T and natural killer (NK) cells. Here, we report an atypical case of XSCID presenting with autologous T and NK cells and Omenn syndrome-like manifestations. The patient carried a splice-site mutation (IVS1+5G>A) that caused most of the mRNA to be incorrectly...

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Identifiers

PMID: 18559672
DOI: 10.1182/blood-2008-04-149708

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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