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

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, hepatosplenomegaly, recurrent infections, and lymphadenopathy.

Living related liver transplantation in 13 cases of progressive familial intrahepatic cholestasis.

Progressive familial intrahepatic cholestasis (PFIC) is a heterogenous group of disorders with various etiologies. Recent molecular and genetic studies have categorized the spectrum of types. Liver transplantation is a curative modality of treatment in this disease.

Pediatric living-related liver transplantation in Saudi Arabia.

Objective: The purpose of this paper is to report our experience of the first 29 consecutive living-related liver transplants in pediatric recipients and to demonstrate the feasibility of living-related liver transplantation in the Arab World. The first living-related liver transplantation in the Kingdom of Saudi Arabia was performed in November 1998 by Bassas et al following an appropriate period of multi-disciplinary preparation.

Methods: This study was carried out at the Armed Forces Hospital, Riyadh, Kingdom of Saudi Arabia, during the period November 1998 through to October 2001.