{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T01:21:09Z","timestamp":1793409669990,"version":"4.5.0"},"reference-count":35,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,10,15]],"date-time":"2023-10-15T00:00:00Z","timestamp":1697328000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Scand J Immunol"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Major histocompatibility complex class II (MHC\u2010II) deficiency or bare lymphocyte syndrome (BLS) is a rare, early\u2010onset, autosomal recessive, and life\u2010threatening inborn error of immunity. We aimed to assess the demographic, clinical, laboratory, follow\u2010up, and treatment characteristics of patients with MHC\u2010II deficiency, together with their survival. We retrospectively investigated 21 patients with MHC\u2010II deficiency. Female\/male ratio was 1.63. The median age at diagnosis was 16.3\u2009months (5\u2009months\u20139.7\u2009years). Nineteen patients (90.5%) had parental consanguinity. Pulmonary diseases (pneumonia, chronic lung disease) (81%), diarrhoea (47.6%), and candidiasis (28.6%) were common. Four (19%) had autoimmunity, two developed septic arthritis, and three (14%) developed bronchiectasis in the follow\u2010up. Three patients (14%) had CMV viraemia, one with bilateral CMV retinitis. Eight (38.1%) had lymphocytopenia, and four (19%) had neutropenia. Serum IgM, IgA, and IgG levels were low in 18 (85.7%), 15 (71.4%), and 11 (52.4%) patients, respectively. CD4+ lymphocytopenia, a reversed CD4+\/CD8+ ratio, and absent\/low HLA\u2010DR expressions were detected in 93.3%, 86.7%, and 100% of the patients, respectively. Haematopoietic stem cell transplantation (HSCT) was performed on nine patients, and four died of septicaemia and ARDS after HSCT. The present median age of patients survived is 14\u2009years (1\u201331\u2009years). Genetic analysis was performed in 10 patients. RFX5 homozygous gene defect was found in three patients (P1, P4 and P8), and RFXANK (P2 and P14) and RFXAP (P18 and P19) heterozygous gene defects were found in each two patients, respectively. This large cohort showed that BLS patients have severe combined immunodeficiency (SCID)\u2010like clinical findings. Flow cytometric MHC\u2010II expression study is crucial for the diagnosis, differential diagnosis with SCID, early haematopoietic stem cell transplantation (HSCT), and post\u2010HSCT follow\u2010up. Genetic studies are required first for matched family donor evaluation before HSCT and then for genetic counselling.<\/jats:p>","DOI":"10.1111\/sji.13335","type":"journal-article","created":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T03:51:12Z","timestamp":1697428272000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A large single\u2010center cohort of bare lymphocyte syndrome: Immunological and genetic features in Turkey"],"prefix":"10.1111","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7286-9210","authenticated-orcid":false,"given":"Hilal","family":"\u00dcnsal","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Immunology Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Canan","family":"Caka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of 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