22q11.2 deletion syndrome: 20 years of experience from two pediatric immunology units and review of clues for diagnosis and disease management

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dc.contributor.authorOzen, Selime
dc.contributor.authorAkcal, Omer
dc.contributor.authorTaskirdi, Ilke
dc.contributor.authorHaci, Idil Akay
dc.contributor.authorKaraca, Neslihan Edeer
dc.contributor.authorGulez, Nesrin
dc.contributor.authorKutukculer, Necil
dc.date.accessioned2021-05-03T20:33:23Z
dc.date.available2021-05-03T20:33:23Z
dc.date.issued2021
dc.departmentEge Üniversitesien_US
dc.description.abstractIntroduction and objectives: The purpose of this study was to evaluate patients diagnosed with 22q11.2 deletion syndrome and determine the clues directing to diagnosis and evaluation of immunological findings for excellent management of the disease. Material and methods: Thirty-three pediatric patients with 22q11.2 deletion syndrome diagnosed between 1998 and 2019 at Pediatric Immunology Division of Ege University Faculty of Medicine and SBU Izmir Dr Behcet Uz Children's Education and Research Hospital were evaluated. Results: This study includes the largest case series reported from Turkey. Congenital cardiac anomalies were the most common pathology associated with the syndrome (90.9%). Hypocalcemic symptoms were observed in 13 patients (40%). Twenty-two of the 33 (66.6%) patients were diagnosed before two years of age. Autoimmune diseases, dysmorphic facial findings, recurrent infections, growth retardation, and speech impairment were other clues for diagnosis in older patients. Clinical spectrum and immunological abnormalities of this syndrome are quite variable. All T-cell subset counts were less than 5th percentile below median by age in one patient (3%) and 10 patients had normal all T-cell subset counts (30.3%). Overall, 69.6% of the patients had normal IgG, IgA, and IgM levels and two patients had panhypogammaglobulinemia. Recurrent infections were revealed in 75.7% of the patients during follow-up. Conclusions: Presence of cardiac anomaly is more helpful in the diagnosis, especially under two years of age. Patients with immunologically high or standard risk did not show any difference in terms of numbers and severity of infections and autoimmunity. (C) 2021 Codon Publications. Published by Codon Publications.en_US
dc.identifier.doi10.15586/aei.v49i1.24en_US
dc.identifier.endpage100en_US
dc.identifier.issn0301-0546
dc.identifier.issn1578-1267
dc.identifier.issue1en_US
dc.identifier.pmid33528935en_US
dc.identifier.scopus2-s2.0-85101263513en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage95en_US
dc.identifier.urihttps://doi.org/10.15586/aei.v49i1.24
dc.identifier.urihttps://hdl.handle.net/11454/70001
dc.identifier.volume49en_US
dc.identifier.wosWOS:000619192200013en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherCodon Publicationsen_US
dc.relation.ispartofAllergologia Et Immunopathologiaen_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectInfectionsen_US
dc.subjectimmunodeficiencyen_US
dc.subjectThymusen_US
dc.subjectpediatricen_US
dc.subject22811.2 deletion syndromeen_US
dc.title22q11.2 deletion syndrome: 20 years of experience from two pediatric immunology units and review of clues for diagnosis and disease managementen_US
dc.typeReview Articleen_US

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