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Article

The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients.

Medicine - 1 Nov 2003

Winkelstein Jerry A, Marino Mary C, Ochs Hans, Fuleihan Ramsey, Scholl Paul R, Geha Raif, Stiehm E Richard, Conley Mary Ellen

Abstract excerpt

The X-linked hyper-IgM (XHIGM) syndrome is an uncommon primary immunodeficiency disease caused by mutations in the gene for CD40 ligand and characterized by normal or elevated serum IgM, reduced levels of IgG and IgA, and defective T-cell function. Because of its rarity, it has been difficult for any single investigator or institution to develop a comprehensive clinical picture of this disorder. Accordingly, a...

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Source

Identifiers

PMID: 14663287
DOI: 10.1097/01.md.0000100046.06009.b0

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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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