Novel CD40LG Mutation in Two Cousins With Immunoglobulin Class Switch Recombinant Deficiency
-
Shahnaz Armin
,
Keyvan Ramezani
,
Bibi Shahin Shamsian
,
Zahra Chavoshzadeh
,
Maryam Eghbali
,
Alireza Zare Bidoki
,
Maryam Sadr
,
Mehrnaz Mesdaghi
,
Hooshang Gorjipour
,
Sepideh Razi
,
Nima Rezaei
Abstract
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).
Qamar N, Fuleihan RL. The hyper IgM syndromes. Clinical reviews in allergy & immunology. 2014;46(2):120-30.
Uygungil B, Bonilla F, Lederman H. Evaluation of a patient with hyper-IgM syndrome. The Journal of allergy and clinical immunology. 2012;129(6):1692-3.e4.
Aghamohammadi A, Parvaneh N, Rezaei N, Moazzami K, Kashef S, Abolhassani H, et al. Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations. Journal of clinical immunology. 2009;29(6):769-76.
Lee WI, Huang JL, Yeh KW, Yang MJ, Lai MC, Chen LC, et al. Clinical features and genetic analysis of Taiwanese patients with the hyper IgM syndrome phenotype. The Pediatric infectious disease journal. 2013;32(9):1010-6.
Mahdaviani SA, Hirbod-Mobarakeh A, Wang N, Aghamohammadi A, Hammarstrom L, Masjedi MR, et al. Novel mutation of the activation-induced cytidine deaminase gene in a Tajik family: special review on hyper-immunoglobulin M syndrome. Expert review of clinical immunology. 2012;8(6):539-46.
Aghamohammadi A, Imai K, Moazzami K, Abolhassani H, Tabatabaeiyan M, Nima P, et al. Ataxia-Telangiectasia in a Patient Presenting With Hyper-immunoglobulin M Syndrome2010. 442-5 p.
Madkaikar M, Gupta M, Chavan S, Italia K, Desai M, Merchant R, et al. X-linked hyper IgM syndrome: clinical, immunological and molecular features in patients from India. Blood cells, molecules & diseases. 2014;53(3):99-104.
Tang WJ, An YF, Dai RX, Wang QH, Jiang LP, Tang XM, et al. Clinical, molecular, and T cell subset analyses in a small cohort of Chinese patients with hyper-IgM syndrome type 1. Human immunology. 2014;75(7):633-40.
Crank MC, Grossman JK, Moir S, Pittaluga S, Buckner CM, Kardava L, et al. Mutations in PIK3CD Can Cause Hyper IgM Syndrome (HIGM) Associated with Increased Cancer Susceptibility. Journal of clinical immunology. 2014;34(3):272-6.
Elenga N, Dulorme F, de Saint Basile G, Mahamat A. Pneumocystis jiroveci pneumonia revealing de novo mutation causing X-linked hyper-IgM syndrome in an infant male. The first case reported from French Guiana. Journal of pediatric hematology/oncology. 2012;34(7):528-30.
Erdos M, Garami M, Rakoczi E, Zalatnai A, Steinbach D, Baumann U, et al. Neuroendocrine carcinoma associated with X-linked hyper-immunoglobulin M syndrome: report of four cases and review of the literature. Clinical immunology (Orlando, Fla). 2008;129(3):455-61.
Hirbod-Mobarakeh A, Aghamohammadi A, Rezaei N. Immunoglobulin class switch recombination deficiency type 1 or CD40 ligand deficiency: from bedside to bench and back again. Expert review of clinical immunology. 2014;10(1):91-105.
Safari M, Rezaei N, Hajilooi M, Aghamohammadi A, Pan-Hammarstrom Q, Hammarstrom L. Onychomadesis in a Patient with Immunoglobulin Class Switch Recombination Deficiency2008. 41-4 p.
Rezaei N, Aghamohammadi A, Ramyar A, Pan-Hammarstrom Q, Hammarstrom L. Severe congenital neutropenia or hyper-IgM syndrome? A novel mutation of CD40 ligand in a patient with severe neutropenia. International archives of allergy and immunology. 2008;147(3):255-9.
Rezaei N, Notarangelo LD. Hematopoietic stem cell transplantation for hyper-IgM syndromes. Pediatric transplantation. 2013;17(1):1-2.
| Files | ||
| Issue | Vol 57, No 11 (2019) | |
| Section | Case Report(s) | |
| DOI | https://doi.org/10.18502/acta.v57i11.3269 | |
| Keywords | ||
| Hyper-IgM syndrome Class-switch recombination deficiency Mutation Immunodeficiency CD40 ligand gene (CD40LG) Hyper-immunoglobulin M (HIGM) | ||
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