Evaluation of immunological abnormalities in patients with rare syndromes

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dc.contributor.authorGul, Yahya
dc.contributor.authorKapakli, Hasan
dc.contributor.authorAytekin, Selma Erol
dc.contributor.authorGuner, Sukru Nail
dc.contributor.authorKeles, Sevgi
dc.contributor.authorZamani, Ayse Gul
dc.contributor.authorYildirim, Mahmut Selman
dc.date.accessioned2024-02-23T14:40:55Z
dc.date.available2024-02-23T14:40:55Z
dc.date.issued2022
dc.departmentNEÜen_US
dc.description.abstractIntroduction: Recurrent infections are important problems in syndromic patients. This study aimed to evaluate immunological abnormalities in patients who presented with recurrent infections and were diagnosed with rare syndromes. Material and methods: This retrospective analysis included 14 patients with complaints of recurrent infections, all of whom were diagnosed with a rare syndrome. Results: The study group consisted of patients with Aicardi syndrome, Brugada syndrome, Phelan-McDermid syndrome, trichothiodystrophy, LEOPARD syndrome, Prader-Willi syndrome, Seckel syndrome, trisomy 18 (Edwards' syndrome), Wiedemann-Steiner syndrome, West syndrome, Williams syndrome, 47,XYY syndrome, 16p13 deletion syndrome, and 13q1.3 deletion syndrome. Seven patients (50%) were girls and seven (50%) were boys (mean age, 56.7 +/- 32.9 months; median [range] age: 45.5 [27-153] months). There were high rates of consanguinity (50%), cesarean section delivery (71%), and hospitalization in the intensive care unit (78.5%). No patients had a family history of immunodeficiency. On admission, all patients exhibited humoral and/or cellular immune system abnormalities. During the follow-up period, all T-cell abnormalities were improved after immunoglobulin replacement therapy (IGRT), while B-cell abnormalities persisted. These findings suggested that the patients predominantly had antibody deficiencies associated with mild T- cell abnormalities because of recurrent infections. The rates of infections and hospitalizations were significantly reduced after IGRT (p < 0.001); the rate of intensive care unit admission also significantly decreased (from 78.5% to 21.4%). Two of the three oxygen-dependent patients exhibited improvement therein. IGRT was discontinued in two patients with significant clinical improvement during follow-up. Conclusions: An immunological evaluation should be considered in pediatric patients with rare syndromes and recurrent infections. IGRT may help to improve the prognoses of these patients.en_US
dc.identifier.doi10.5114/ceji.2022.124080
dc.identifier.endpage307en_US
dc.identifier.issn1426-3912
dc.identifier.issn1644-4124
dc.identifier.issue4en_US
dc.identifier.pmid36817395en_US
dc.identifier.scopus2-s2.0-85148003484en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage299en_US
dc.identifier.urihttps://doi.org/10.5114/ceji.2022.124080
dc.identifier.urihttps://hdl.handle.net/20.500.12452/16642
dc.identifier.volume47en_US
dc.identifier.wosWOS:000930075800003en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTermedia Publishing House Ltden_US
dc.relation.ispartofCentral European Journal Of Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectImmunodeficiencyen_US
dc.subjectRare Syndromeen_US
dc.subjectRecurrent Infectionen_US
dc.subjectImmunoglobulin Replacement Therapyen_US
dc.titleEvaluation of immunological abnormalities in patients with rare syndromesen_US
dc.typeArticleen_US

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