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

Asian Pac J Allergy Immunol. 2021 Mar;39(1):31-34. 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.

Publication types

  • Case Reports

MeSH terms

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

Substances

  • Antifungal Agents
  • Immunoglobulins, Intravenous
  • CD40 Ligand
  • Amphotericin B
  • Fluconazole