ReviewFrontiers in immunology2024
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.
Review in Frontiers in immunology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- HemizygousThe application of clinical genetics · 2025Article
- Identification and Validation of Hub Genes in Hidradenitis Suppurativa.Clinical, cosmetic and investigational dermatology · 2025Article
- A novelFrontiers in genetics · 2025Article
- Disseminated BCG infection and rotavirus enteritis in an infant with severe immunodeficiency: a causal association study.Frontiers in public health · 2025Article
- Case Report: Transfusion-associated graft-versus-host disease in severe combined immunodeficiency.Frontiers in immunology · 2025Article
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Authors and funding
8 authors.
Funding
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Abstract
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
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