Granulomatous hepatitis in a Saudi child with defect: a case report and literature review.

Interleukin-2 receptor alpha () defect (OMIM- # 606367) is an immune disease where affected patients are vulnerable to developing recurrent microbial infections in addition to lymphadenopathy and dermatological manifestations. This condition is known to be caused by pathogenic variants in the gene, which are inherited in an autosomal recessive fashion. In this case report, we present a patient with defect from Saudi Arabia who presented with chronic diarrhea, poor weight gain, mild villous atrophy, malnutrition, hepatomegaly, nonspecific inflammation, and an eczematous skin rash.