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

• DOI: 10.1111/iji.12624
• Publication Date: 2023-06-13T03:15:15Z
• Authors: Sevim Busra Korkmaz; Mehmet Ali Karaselek; Selma Erol Aytekin; Huseyin Tokgoz; Ismail Reisli; Sukru Guner; Sevgi Keles
• Keywords: Organomegaly

Severe combined immunodeficiency (SCID) is an inborn errors of immunity (IEI) disorder characterized by impairment in the development and function lymphocytes could be fatal if not treated with hematopoietic stem cell transplant first 2 years life. There are various diagnostic criteria for SCID among different primary societies. We retrospectively evaluated clinical laboratory findings 59 patients followed up diagnosis at our clinic over past 20 order to develop algorithm that would help countries where a high ratio consanguineous marriage present because these have launched TREC assay their newborn screening programs. The mean age was 5.80 ± 4.90 months, delay 3.29 3.99 months. most common complaint physical examination were cough (29.05%), eczematous rash (63%) organomegaly (61%). ADA (17%), Artemis (14%), RAG1/2 (15%), MHC Class II (12%) IL-2R deficiencies genetic defects. Lymphopenia (87.5%) frequent abnormal finding below 3000/mm3 95% patients. CD3+ T count 300/mm3 83% As result, combination low lymphocyte CD3 lymphopenia more reliable rate marriage. Physicians should consider patient presenting severe infections counts under age.