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Article

Combined immunodeficiency evolving into predominant CD4+ lymphopenia caused by somatic chimerism in JAK3.

Journal of clinical immunology - 1 Nov 2014

Ban Sol A, Salzer Elisabeth, Eibl Martha M, Linder Angela, Geier Christoph B, Santos-Valente Elisangela, Garncarz Wojciech, Lion Thomas, Ott Raphael, Seelbach Christoph, Boztug Kaan, Wolf Hermann M

Abstract excerpt

PURPOSE: Idiopathic CD4 lymphopenia constitutes a heterogeneous group of immunodeficiencies with characteristically low CD4+ T-cell counts with largely unknown genetic etiology. We here sought to determine the underlying molecular cause in an index family with two patients suffering from combined immunodeficiency that evolved into predominant CD4+ lymphopenia. The more severely affected index patient also...

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Share to CD4-Positive T-Lymphocytes
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25205547
DOI: 10.1007/s10875-014-0088-2
PMCID: PMC4220108

Genes

JAK3
STAT3

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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