Novel CD40LG Mutation in Two Cousins With Immunoglobulin Class Switch Recombinant Deficiency

Acta Medica Iranica

Sepideh Razi¹  Maryam Eghbali²  Mehrnaz Mesdaghi³  Keyvan Ramezani⁴  Hooshang Gorjipour⁴  Bibi Shahin Shamsian⁴  Maryam Sadr⁵  Zahra Chavoshzadeh⁶  Shahnaz Armin⁷  Nima Rezaei⁸  Alireza Zare Bidoki⁹ 

[1] 7 Student Research Committee, School of Medicine, Iran University of Medical Sciences, Tehran, Iran. AND Cancer Immunology Project (CIP), Universal Scientific Education and Research Network (USERN), Tehran, Iran.;Department of Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.;Department of Pediatrics, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran;Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.;Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran.;Pediatric Infections Research Center, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. ANDMofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.;Pediatric Infections Research Center, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. AND Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.;Research Center for Immunodeficiencies, Children’s Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran. AND Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. ANDNetwork of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.;The John Curtin School of Medical Research, Australian National University, Canberra 2601, Australia. AND Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Canberra, Australia.;

关键词: Hyper-IgM syndrome;    Class-switch recombination deficiency;    Mutation;    Immunodeficiency;    CD40 ligand gene (CD40LG);    Hyper-immunoglobulin M (HIGM);   

DOI  :  10.18502/acta.v57i11.3269

来源: DOAJ

【 摘 要 】

The hyper-immunoglobulin M (HIGM) syndrome comprises a group of rare inherited immunodeficiency disorders characterized by normal or elevated levels of serum IgM with low or absent levels of serum IgG, IgA, and IgE. Patients with this syndrome usually present with a history of recurrent infections or opportunistic infections. Here, we report two male cousins from homozygote twin mothers. The first cousin presented with no signs or symptoms other than neutropenia, which was accidentally found in a routine blood test. Immunological workup in this patient showed undetectable IgG and IgA levels and normal IgM levels. The second cousin had a history of recurrent infections, and at the time of admission, he was diagnosed with Pneumocystis jirovecii infection. The immunologic workup of this patient showed undetectable IgG, decreased IgA, and increased IgM level. Due to their interesting family relationship, genetic analysis was performed, which detected a novel mutation in exon 2 (c.266 del G) of the CD40 ligand gene (CD40LG).

【 授权许可】

Unknown