Diagnosis of primary immunodeficiency diseases in pediatric patients hospitalized for recurrent, severe, or unusual infections

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dc.authoridSinem Fırtına / 0000-0002-3370-8545en_US
dc.authorscopusidSinem Fırtına / X-8520-2018
dc.authorwosidSinem Fırtına / 16642650000en_US
dc.contributor.authorNepesov, Serdar
dc.contributor.authorFırtına, Sinem
dc.contributor.authorAygün, Fatma Deniz
dc.contributor.authorBurtenece, Nihan
dc.contributor.authorÇokuğraş, Haluk
dc.contributor.authorCamcıoğlu, Yıldız
dc.date.accessioned2022-07-06T13:29:10Z
dc.date.available2022-07-06T13:29:10Z
dc.date.issued2022en_US
dc.departmentİstinye Üniversitesi, Mühendislik ve Doğa Bilimleri Fakültesi, Biyoenformatik ve Genetik Bölümüen_US
dc.description.abstractBackground: Primary immunodeficiency diseases (PID) usually presents itself with recurrent, severe, and unusual infections, along with autoimmunity and various other malignancies. But, the diversity of PID often makes the diagnosis of patients difficult for physicians other than clinical immunologists. This study aimed to describe the characteristics of patients diagnosed with PIDs during the inpatient treatment for infectious diseases, and to highlight the cases in which a PID diagnosis should be considered.Methods: The clinical, immunological, and molecular features of 81 pediatric patients treated for infectious diseases, who were diagnosed with a PID during hospitalization was retrospec-tively analyzed. The diagnosis was based on the PID criteria of the International Union of Immunological Societies.Results: The five main PID sub-types were identified. Predominantly, antibody deficiencies were the most common (61.7%) group. The average delay in diagnosis was 34.6 months, and the positive family history rate was 24.7%, while the consanguineous marriage rate was 45.7%. Around thirty-five (43%) patients were found to have mutated PID-related genes. While lower respiratory tract infections were the most common symptom, a fever of unknown origin was another remarkable diagnosis. Eight (9.9%) patients underwent allogeneic hematopoietic stem cell transplantation.Conclusions: Clinicians should consider a PID diagnosis, especially in the cases of recurrent, severe, or atypical infections. Increased knowledge of the alarm features of PID can promote early diagnosisen_US
dc.identifier.citationNepesov S, Firtina S, Aygun FD, Burtenece N, Cokugras H, Camcioglu Y. Diagnosis of primary immunodeficiency diseases in pediatric patients hospitalized for recurrent, severe, or unusual infections. Allergol Immunopathol (Madr). 2022 Jul 1;50(4):50-56. doi: 10.15586/aei.v50i4.605. PMID: 35789402.en_US
dc.identifier.doi10.15586/aei.v50i4.605en_US
dc.identifier.endpage56en_US
dc.identifier.issn0301-0546en_US
dc.identifier.issue4en_US
dc.identifier.pmid35789402en_US
dc.identifier.scopus2-s2.0-85133287004en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage50en_US
dc.identifier.urihttp://doi.org/10.15586/aei.v50i4.605
dc.identifier.urihttps://hdl.handle.net/20.500.12713/2986
dc.identifier.volume50en_US
dc.identifier.wosWOS:000828751900006en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorFırtına, Sinem
dc.language.isoenen_US
dc.publisherCodon Publicationsen_US
dc.relation.ispartofAllergologia et Imminopathologiaen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectChildrenen_US
dc.subjectInfectionen_US
dc.subjectSevere Combined Immunodeficiencyen_US
dc.subjectPrimary Immunodeficiencyen_US
dc.subjectSCIDen_US
dc.titleDiagnosis of primary immunodeficiency diseases in pediatric patients hospitalized for recurrent, severe, or unusual infectionsen_US
dc.typeArticleen_US

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