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Article

Disseminated cryptococcosis in two boys with novel mutation of CD40 Ligand-Associated X-linked hyper-IgM syndrome.

Asian Pacific journal of allergy and immunology - 1 Mar 2021

Pacharn Punchama, Phongsamart Wanatpreeya, Boonyawat Boonchai, Jirapongsananuruk Orathai, Visitsunthorn Nualanong, Chokephaibulkit Kulkanya

Abstract excerpt

X-linked hyper-IgM syndrome (XHIM) caused by CD40L mutations is a primary immunodeficiency condition that increases susceptibility to opportunistic infections. Disseminated cryptococcosis in XHIM is rarely reported in children. Here, we report two related boys who have a novel hemizygous frameshift c.208delC mutation of CD40L. They live in the western region of Thailand and developed disseminated cryptococcosis...

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Identifiers

PMID: 30447657
DOI: 10.12932/AP-190618-0341

Genes

CD40

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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