Article
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.
Clinical genetics - 1 Feb 2022
Alawbathani Salem, Westenberger Ana, Ordonez-Herrera Natalia, Al-Hilali Mariam, Al Hebby Homoud, Alabbas Fahad, Alhashem Amal M, Elyamany Ghaleb, Megarbane André, Kose Melis, Alhashmi Nadia, Al Sukaiti Nashat, Al-Raqad Mohammed, Al-Tawalbeh Samah, Abu Adas Blanco Omar, Alkhattabi Fadiah, Sng Danielle, Al-Ali Ruslan, Khan Suliman, Tawamie Hasan, Tripolszki Kornelia, Karageorgou Vasiliki, Trunzo Roberta, Al Mutairi Fuad, Reversade Bruno, Bauer Peter, Bertoli-Avella Aida M
Abstract excerpt
Biallelic 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,...
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