A Novel Variant of Adenosine Deaminase 2 Deficiency Presented With Chronic Thrombocytopenia, Anemia, and Early-Onset Stroke.

Deficiency of adenosine deaminase 2 (DADA2) is a rare recessive disorder caused by the bi-allelic loss-of-function pathogenic variants in the gene (MIM: 607575, also known as , cat eye syndrome chromosome region, candidate 1). Based on the Human Gene Mutation Database (HGMD), 53 different disease-causing variants have been identified in this gene to date. This case report aims to describe a new vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) case caused by a novel pathogenic variant.

Cholelithiasis in patients with paediatric sickle cell anaemia in a Saudi hospital.

Objective: Sickle cell disease is one of the most common inherited hemoglobinopathies in the world. Chronic haemolysis predisposes individuals to the development of bilirubinate cholelithiasis, which can be asymptomatic or can result in cholecystitis, choledocholithiasis, cholangitis, and gallstone pancreatitis. We aimed to determine the prevalence of cholelithiasis and associated gallstone disease among patients with paediatric sickle cell disease in a Saudi hospital.

Ceftriaxone induced acute multi-organ failure syndrome in a Saudi boy with sickle cell disease.

Multi-organ failure syndrome (MOFS) is a rare life threatening complication of sickle cell disease. It is precipitated by severe vaso-occlusive episodes. We report a Saudi boy with sickle cell anemia, who developed acute MOFS following anaphylaxis to ceftriaxone administration.