X-linked hyper-IgM syndrome associated with pulmonary manifestations: A very rare case of functional mutation in CD40L gene in Iran.
Torabizadeh M1, Nabavi M2, Zadkarami M3, Shahrooei M4.
Author information
1
Golestan Hospital Clinical Research Development Unit, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran. Electronic address: mehditorabizadeh@gmail.com.
2
Iran University of Medical Sciences, Hazrat-E-Rasool Hospital, Tehran, Iran.
3
Abuzar Children's Hospital, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
4
Specialized Immunology Laboratory of Dr. Shahrooei, Ahvaz, Iran; Department of Microbiology and Immunology, KU Leuven, Leuven, Belgium.
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.

Copyright © 2018 Elsevier Masson SAS. All rights reserved.

KEYWORDS:
CD40 ligand; Hyper IgM syndrome; Whole exome sequencing

PMID: 29525420 DOI: 10.1016/j.retram.2018.02.001