Diagnosis of Hyper IgM syndrome in a Previously Healthy Adolescent Boy Presented with Cutaneous and Cerebral Cryptococcosis

Pediatr Infect Dis J. 2021 Jan;40(1):e18-e20. doi: 10.1097/INF.0000000000002945.

Abstract

X-linked hyper IgM (X-HIGM) syndrome is a combined immunodeficiency disease caused by mutations in the CD40LG gene, leading to a defect in immunoglobulin (Ig) class switching recombination and effector T-cell responses. X-HIGM patients usually present in early life with pyogenic bacterial and opportunistic infections. Herein, we report a previously healthy 13-year-old Thai boy who first presented with cutaneous and meningoencephalitis cryptococcosis. Whole-exome sequencing revealed that he was hemizygous for a missense c.514T>C (p.Tyr172His) in CD40LG, confirming a diagnosis of X-HIGM. This report demonstrates that X-HIGM could have an age of onset in teens and systemic cryptococcosis could be its presenting symptoms.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • CD40 Ligand / genetics
  • Dermatomycoses
  • Face / microbiology
  • Face / pathology
  • Humans
  • Hyper-IgM Immunodeficiency Syndrome* / complications
  • Hyper-IgM Immunodeficiency Syndrome* / diagnosis
  • Hyper-IgM Immunodeficiency Syndrome* / genetics
  • Male
  • Meningitis, Cryptococcal*
  • Mutation / genetics
  • Opportunistic Infections
  • Skin / microbiology
  • Skin / pathology

Substances

  • CD40 Ligand