X-linked hyper-IgM syndrome associated with pulmonary manifestations: A very rare case of functional mutation in CD40L gene in Iran

Curr Res Transl Med. 2019 Feb;67(1):28-30. doi: 10.1016/j.retram.2018.02.001. Epub 2018 Mar 7.

Abstract

Hyper IgM (HIGM) syndromes are a complex of primary immunodeficiency disorders. A 4-years-old boy with recurrent fever and chills, dyspnea, sort throat for a month was admitted to emergency department. In the current case, whole exome sequencing followed by Sanger sequencing were employed in order to screen probable functional mutations. Molecular analysis revealed a functional mutation across the CD40L gene (NM_000074: exon5: c.T464C) resulted in amino acid change p.L155P attributed to X-linked hyper IgM syndrome. The findings of the current study signify the critical role of microbial infection as well as XHIGM screening, particularly in those children cases with respiratory symptoms.

Keywords: CD40 ligand; Hyper IgM syndrome; Whole exome sequencing.

Publication types

  • Case Reports

MeSH terms

  • CD40 Ligand / genetics*
  • Child, Preschool
  • Exome Sequencing
  • Humans
  • Hyper-IgM Immunodeficiency Syndrome, Type 1 / complications
  • Hyper-IgM Immunodeficiency Syndrome, Type 1 / diagnosis*
  • Hyper-IgM Immunodeficiency Syndrome, Type 1 / genetics
  • Iran
  • Lung Diseases / diagnosis*
  • Lung Diseases / genetics
  • Male
  • Mutation*
  • Radiography, Thoracic
  • Respiratory Tract Infections / diagnosis
  • Respiratory Tract Infections / genetics

Substances

  • CD40 Ligand