Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities

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dc.authoridKhan, Suliman/0000-0002-0745-7834
dc.authoridAl-Ali, Ruslan/0000-0002-0189-3774
dc.authoridWestenberger, Ana/0000-0001-8062-6959
dc.authorscopusid56271827500
dc.authorscopusid55577873900
dc.authorscopusid56560250200
dc.authorscopusid56339535200
dc.authorscopusid57322613300
dc.authorscopusid56208605800
dc.authorscopusid55823767500
dc.authorwosidMegarbane, Andre/ABD-5574-2021
dc.contributor.authorAlawbathani, Salem
dc.contributor.authorWestenberger, Ana
dc.contributor.authorOrdonez-Herrera, Natalia
dc.contributor.authorAl-Hilali, Mariam
dc.contributor.authorAl Hebby, Homoud
dc.contributor.authorAl Abbas, Fahad
dc.contributor.authorAlhashem, Amal M.
dc.date.accessioned2023-01-12T20:01:47Z
dc.date.available2023-01-12T20:01:47Z
dc.date.issued2022
dc.departmentN/A/Departmenten_US
dc.description.abstractBiallelic changes in the ZNFX1 gene have been recently reported to cause severe familial immunodeficiency. Through a search of our bio/databank with information from genetic testing of >55 000 individuals, we identified nine additional patients from seven families with six novel homozygous ZNFX1 variants. Consistent with the previously described phenotype, our patients suffered from monocytosis, thrombocytopenia, hepatosplenomegaly, recurrent infections, and lymphadenopathy. The two most severely affected probands also had renal involvement and clinical presentations compatible with hemophagocytic lymphohistiocytosis. The disease was less lethal among our patients than previously reported. We identified two missense changes, two variants predicted to result in complete protein loss through nonsense-mediated decay, and two frameshift changes that likely introduce a truncation. Our findings (i) independently confirm the role of ZNFX1 in primary genetic immunodeficiency, (ii) expand the genetic and clinical spectrum of ZNFX1-related disease, and (iii) illustrate the utility of large, well-curated, and continually updated genotype-phenotype databases in resolving molecular diagnoses of patients with initially negative genetic testing findings.en_US
dc.identifier.doi10.1111/cge.14081
dc.identifier.endpage254en_US
dc.identifier.issn0009-9163
dc.identifier.issn1399-0004
dc.identifier.issue2en_US
dc.identifier.pmid34708404en_US
dc.identifier.scopus2-s2.0-85118477388en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage247en_US
dc.identifier.urihttps://doi.org/10.1111/cge.14081
dc.identifier.urihttps://hdl.handle.net/11454/77517
dc.identifier.volume101en_US
dc.identifier.wosWOS:000714862200001en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofClinical Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjecthemophagocytic lymphohistiocytosisen_US
dc.subjecthepatosplenomegalyen_US
dc.subjectimmunodeficiencyen_US
dc.subjectmonocytosisen_US
dc.subjectZNFX1en_US
dc.titleBiallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalitiesen_US
dc.typeArticleen_US

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