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

  • PubMed
  • May 4, 2025
  • 0 Comments

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

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

Publication year: 2021

Asian Pacific journal of allergy and immunology

issn:0125-877X

doi: 10.12932/AP-140218-0265

Abstract:

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 while receiving regular intravenous immunoglobulin supplementation.

Language: eng

Rights:

Pmid: 30447657

Tags: Humans; Male; Child; Mutation; Immunoglobulins, Intravenous/therapeutic use; Antifungal Agents/therapeutic use; Amphotericin B/therapeutic use; CD40 Ligand/*genetics; Cryptococcosis/drug therapy/*genetics; Fluconazole/therapeutic use; Hyper-IgM Immunodeficiency Syndrome/drug therapy/*genetics

Link: https://pubmed.ncbi.nlm.nih.gov/30447657/

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