ArticleEuropean journal of microbiology & immunology2014
X-linked severe combined immunodeficiency due to a novel mutation complicated with hemophagocytic lymphohistiocytosis and presented with invagination: A case report.
Article in European journal of microbiology & immunology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.
- HLH as an additional warning sign of inborn errors of immunity beyond familial-HLH in children: a systematic review.Frontiers in immunology · 2024Pooled it
- Features of Hemophagocytic Lymphohistiocytosis in Infants With Severe Combined Immunodeficiency: Our Experience From Chandigarh, North India.Frontiers in immunology · 2022Article
- Hemophagocytic syndrome associated with Mycobacterium bovis in a patient with X-SCID: a case report.BMC infectious diseases · 2020Article
- Two Brothers with AtypicalFrontiers in immunology · 2017Article
- Combined immunodeficiencies: twenty years experience from a single center in Turkey.Central-European journal of immunology · 2016Article
- The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis.Haematologica · 2015Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Severe combined immunodeficiency (SCID) is an inherited disease with profoundly defective T cells, B cells, and natural killer (NK) cells. X-linked SCID (X-SCID) is its most common form. In this report, we describe a 4-month-old male with X-SCID who presented invagination and also showed hemophagocytic lymphohistiocytosis (HLH). The patient was admitted to our hospital with fever, cough, vomiting, monoliasis, and hepatosplenomegaly in postoperative period at the age of 3 months. The laboratory finding revealed no detectable T cells and hypogammaglobulinemia despite normal B-cell counts. Diagnosis of X-SCID was established by DNA analysis of the interleukin (IL)-2 receptor gamma chain gene (IL2RG); namely, we detected the novel mutation in the splice-site of exon 5 (c.595-1G>T). The patient died due to infection at the age of 4 months. Also, this case is the first report that describes the patient with X-SCID with presented invagination.
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