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Article

Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.

Blood - 1 Oct 2015

Fuchs Sebastian, Rensing-Ehl Anne, Pannicke Ulrich, Lorenz Myriam R, Fisch Paul, Jeelall Yogesh, Rohr Jan, Speckmann Carsten, Vraetz Thomas, Farmand Susan, Schmitt-Graeff Annette, Krüger Marcus, Strahm Brigitte, Henneke Philipp, Enders Anselm, Horikawa Keisuke, Goodnow Christopher, Schwarz Klaus, Ehl Stephan

Abstract excerpt

Omenn syndrome (OS) is a severe immunodeficiency associated with erythroderma, lymphoproliferation, elevated IgE, and hyperactive oligoclonal T cells. A restricted T-cell repertoire caused by defective thymic T-cell development and selection, lymphopenia with homeostatic proliferation, and lack of regulatory T cells are considered key factors in OS pathogenesis. We report 2 siblings presenting with...

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Source

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Identifiers

PMID: 26289640
DOI: 10.1182/blood-2015-03-631374
PMCID: PMC4654427

Genes

CARD11

Variants

Provenance

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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Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.PMID 26289640Read ↗

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