Expanding the nude SCID/CID phenotype associated with FOXN1 homozygous, compound heterozygous, or heterozygous mutations

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dc.authoridSinem Fırtına / 0000-0002-3370-8545en_US
dc.authorscopusidSinem Fırtına / 16642650000
dc.authorwosidSinem Fırtına / X-8520-2018
dc.contributor.authorGiardino, Giuliana
dc.contributor.authorSharapova, Svetlana O.
dc.contributor.authorCiznar, Peter
dc.contributor.authorDhalla, Fatima
dc.contributor.authorMaragliano, Luca
dc.contributor.authorİslamoğlu, Candan
dc.contributor.authorFırtına, Sinem
dc.date.accessioned2021-01-21T11:49:25Z
dc.date.available2021-01-21T11:49:25Z
dc.date.issued2021en_US
dc.departmentİstinye Üniversitesi, Mühendislik ve Doğa Bilimleri Fakültesi, Moleküler Biyoloji ve Genetik Bölümüen_US
dc.description.abstractHuman nude SCID is a rare autosomal recessive inborn error of immunity (IEI) characterized by congenital athymia, alopecia, and nail dystrophy. Few cases have been reported to date. However, the recent introduction of newborn screening for IEIs and high-throughput sequencing has led to the identification of novel and atypical cases. Moreover, immunological alterations have been recently described in patients carrying heterozygous mutations. The aim of this paper is to describe the extended phenotype associated with FOXN1 homozygous, compound heterozygous, or heterozygous mutations. We collected clinical and laboratory information of a cohort of 11 homozygous, 2 compound heterozygous, and 5 heterozygous patients with recurrent severe infections. All, except one heterozygous patient, had signs of CID or SCID. Nail dystrophy and alopecia, that represent the hallmarks of the syndrome, were not always present, while almost 50% of the patients developed Omenn syndrome. One patient with hypomorphic compound heterozygous mutations had a late-onset atypical phenotype. A SCID-like phenotype was observed in 4 heterozygous patients coming from the same family. A spectrum of clinical manifestations may be associated with different mutations. The severity of the clinical phenotype likely depends on the amount of residual activity of the gene product, as previously observed for other SCID-related genes. The severity of the manifestations in this heterozygous family may suggest a mechanism of negative dominance of the specific mutation or the presence of additional mutations in noncoding regions.en_US
dc.identifier.citationGiardino, G., Sharapova, S. O., Ciznar, P., Dhalla, F., Maragliano, L., Radha Rama Devi, A., Islamoglu, C., Ikinciogullari, A., Haskologlu, S., Dogu, F., Hanna-Wakim, R., Dbaibo, G., Chou, J., Cirillo, E., Borzacchiello, C., Kreins, A. Y., Worth, A., Rota, I. A., Marques, J. G., Sayitoglu, M., … Pignata, C. (2021). Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations. Journal of clinical immunology, 10.1007/s10875-021-00967-y. Advance online publication. https://doi.org/10.1007/s10875-021-00967-yen_US
dc.identifier.doi10.1007/s10875-021-00967-yen_US
dc.identifier.issn0271-9142en_US
dc.identifier.issn1573-2592en_US
dc.identifier.pmid33464451en_US
dc.identifier.scopus2-s2.0-85100001252en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.urihttps://doi.org/10.1007/s10875-021-00967-y
dc.identifier.urihttps://hdl.handle.net/20.500.12713/1355
dc.identifier.wosWOS:000608957300001en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorFırtına, Sinem
dc.language.isoenen_US
dc.publisherSpringer Linken_US
dc.relation.ispartofJournal of Clinical Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectNude SCIDen_US
dc.subjectFOXN1en_US
dc.subjectOmenn Syndromeen_US
dc.subjectAlopeciaen_US
dc.subjectCompound Heterozygousen_US
dc.subjectHeterozygousen_US
dc.subjectHomozygousen_US
dc.subjectNail Dystrophyen_US
dc.titleExpanding the nude SCID/CID phenotype associated with FOXN1 homozygous, compound heterozygous, or heterozygous mutationsen_US
dc.typeArticleen_US

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