ArticleClinical immunology (Orlando, Fla.)2018
DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile.
Article in Clinical immunology (Orlando, Fla.), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients.Journal of clinical immunology · 2022Article
- High-Frequency Exon Deletion of DNA Cross-Link Repair 1C Accounting for Severe Combined Immunodeficiency May Be Missed by Whole-Exome Sequencing.Frontiers in genetics · 2021Article
- TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.Clinical and experimental immunology · 2020Article
- The Clinical and Genetic Spectrum of 82 Patients WithFrontiers in immunology · 2020Article
- Approaches to patients with variants in RAG genes: from diagnosis to timely treatment.Expert review of clinical immunology · 2019Review
- Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.Frontiers in immunology · 2019Article
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Authors and funding
5 authors.
Funding
Abstract
Defects in DNA Recombination due to mutations in RAG1/2 or DCLRE1C result in combined immunodeficiency (CID) with a range of disease severity. We present the clinical, immunologic and molecular characteristics of 21 patients with defects in RAG1, RAG2 or DCLRE1C, who accounted for 24% of combined immune deficiency cases in the Kuwait National Primary Immunodeficiency Disorders Registry. The distribution of the patients was as follow: 8 with RAG1 deficiency, 6 with RAG2 deficiency and 7 with DCLRE1C deficiency. Nine patients presented with SCID, 6 with OS, 2 with leaky SCID and 4 with CID and granuloma and/or autoimmunity (CID-G/AI). Eight patients [(7 SCID and 1 OS) (38%)] received hematopoietic stem cell transplant (HSCT). The median age of HSCT was 11.5months and the median time from diagnosis to HSCT was 6months. Fifty percent of the transplanted patients are alive while only 23% of the untransplanted ones are alive.
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