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REVIEW article

Front. Immunol.
Sec. Primary Immunodeficiencies
Volume 15 - 2024 | doi: 10.3389/fimmu.2024.1453046

X-linked severe combined immunodeficiency complicated by disseminated bacillus Calmette-Guérin disease caused by a novel pathogenic mutation in exon 3 of the IL2RG gene: A case report and literature review

Provisionally accepted
Chunxue Jiang Chunxue Jiang 1Yunhan He Yunhan He 1Kai You Kai You 1*Xin Chen Xin Chen 1Fei Xia Fei Xia 2Feng Shi Feng Shi 2Xuewen Xu Xuewen Xu 3Tingting Sun Tingting Sun 1
  • 1 Department of Pediatrics, ShengJing Hospital of China Medical University, Shenyang, China
  • 2 Sheng Jing Hospital Affiliated, China Medical University, Shenyang, Liaoning Province, China
  • 3 Department of Urology, ShengJing Hospital of China Medical University, Shenyang, Liaoning Province, China

The final, formatted version of the article will be published soon.

    X-linked severe combined immunodeficiency (X-SCID), caused by mutations in the gamma-chain gene of the interleukin-2 receptor (IL2RG), is a prevalent form of SCID characterized by recurrent and fatal opportunistic infections that occur early in life. The incidence of disseminated bacillus Calmette-Guérin (BCG) disease among children with SCID is much higher than in the general population. Here, we report the case of a 4-month-old male infant who presented with subcutaneous induration, fever, an unhealed BCG vaccination site, and hepatosplenomegaly. Metagenomic next-generation sequencing in blood, and the detection of gastric juice and skin nodule pus all confirmed the infection of Mycobacterium tuberculosis. Lymphocyte subset analysis confirmed the presence of T-B+NK immunodeficiency. Whole-exome and Sanger sequencing revealed a novel microdeletion insertion mutation (c.316_318delinsGTGAT p.Leu106ValfsTer42) in the IL2RG gene, resulting in a rare shift in the amino acid sequence of the coding protein. Consequently, the child was diagnosed with X-SCID caused by a novel mutation in IL2RG, complicated by systemic disseminated BCG disease. Despite receiving systemic anti-infection treatment and four days of hospitalization, the patient died three days after discharge. To the best of our knowledge, this specific IL2RG mutation has not been previously reported. In our systemic review, we outline the efficacy of systemic anti-tuberculosis therapy, hematopoietic stem cell transplantation, and gene therapy in children with SCID and BCG diseases caused by IL2RG gene mutation.

    Keywords: X-linked severe combined immunodeficiency, interleukin-2 receptor gamma-chain gene, disseminated bacillus Calmette-Guérin disease, case report, Systemic review

    Received: 25 Jun 2024; Accepted: 26 Jul 2024.

    Copyright: © 2024 Jiang, He, You, Chen, Xia, Shi, Xu and Sun. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Kai You, Department of Pediatrics, ShengJing Hospital of China Medical University, Shenyang, China

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