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Article

X-linked Hyper-IgM Syndrome: A Phenotype of Crohn's Disease with Hemophagocytic Lymphohistiocytosis.

Pediatric hematology and oncology - 1 Nov 2017

Qiu Kun-Yin, Liao Xiong-Yu, Wu Ruo-Hao, Huang Ke, Fang Jian-Pei, Zhou Dun-Hua

Abstract excerpt

X-linked hyper-immunoglobulin M (IgM) syndrome is characterized by recurrent infections, low or undetectable levels of IgG and IgA, and normal to increased serum IgM, and is also rare. It is associated with mutation in the gene encoding CD40 ligand. This study aimed to describe the first international report of hemizygous CD40LG c.542G>A mutation in a 5-year-old boy with a phenotype of Crohn's disease and...

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PMID: 29303623
DOI: 10.1080/08880018.2017.1409301

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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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