Retrospective analysis of patients with severe combined immunodeficiency and alternative diagnostic criteria: A 20-year single centre experience

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dc.contributor.authorKorkmaz, Sevim Busra
dc.contributor.authorKaraselek, Mehmet Ali
dc.contributor.authorAytekin, Selma Erol
dc.contributor.authorTokgoz, Huseyin
dc.contributor.authorReisli, Ismail
dc.contributor.authorGuner, Sukru
dc.contributor.authorKeles, Sevgi
dc.date.accessioned2024-02-23T14:24:17Z
dc.date.available2024-02-23T14:24:17Z
dc.date.issued2023
dc.departmentNEÜen_US
dc.description.abstractSevere combined immunodeficiency (SCID) is an inborn errors of immunity (IEI) disorder characterized by impairment in the development and function of lymphocytes and could be fatal if not treated with hematopoietic stem cell transplant in the first 2 years of life. There are various diagnostic criteria for SCID among different primary immunodeficiency societies. We retrospectively evaluated clinical and laboratory findings of 59 patients followed up with the diagnosis of SCID at our clinic over the past 20 years in order to develop an algorithm that would help diagnosis of SCID for the countries where a high ratio of consanguineous marriage is present because these countries have not launched TREC assay in their newborn screening programs. The mean age at diagnosis was 5.80 +/- 4.90 months, and the delay was 3.29 +/- 3.99 months. The most common complaint and physical examination findings were cough (29.05%), eczematous rash (63%) and organomegaly (61%). ADA (17%), Artemis (14%), RAG1/2 (15%), MHC Class II (12%) and IL-2R (12%) deficiencies were the most common genetic defects. Lymphopenia (87.5%) was the most frequent abnormal laboratory finding and below 3000/mm(3) in 95% of the patients. The CD3(+) T cell count was 300/mm(3) and below in 83% of the patients. As a result, a combination of low lymphocyte count and CD3 lymphopenia for SCID diagnosis would be more reliable for countries with high rate of consanguineous marriage. Physicians should consider diagnosis of SCID in a patient presenting with severe infections and lymphocyte counts below 3000/mm(3) under 2 years of age.en_US
dc.identifier.doi10.1111/iji.12624
dc.identifier.endpage184en_US
dc.identifier.issn1744-3121
dc.identifier.issn1744-313X
dc.identifier.issue4en_US
dc.identifier.pmid37308802en_US
dc.identifier.scopus2-s2.0-85163089926en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage177en_US
dc.identifier.urihttps://doi.org/10.1111/iji.12624
dc.identifier.urihttps://hdl.handle.net/20.500.12452/13883
dc.identifier.volume50en_US
dc.identifier.wosWOS:001003498500001en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofInternational Journal Of Immunogeneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectLymphopeniaen_US
dc.subjectSciden_US
dc.subjectSevere Infectionen_US
dc.subjectT Cellsen_US
dc.titleRetrospective analysis of patients with severe combined immunodeficiency and alternative diagnostic criteria: A 20-year single centre experienceen_US
dc.typeArticleen_US

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