engleski

Multiple intestinal atresia with combined immunodeficiendy due to TTC7A gene mutation - case report

Multiple intestinal atresia (MIA) is a congenital malformation disorder in which atresia occurs at multiple levels throughout the gastrointestinal tract, most commonly small bowel. Frequently it presents as an isolated anomaly, but also as a part of a complex inherited disorder caused by homozygous or compound heterozygous mutation in tetratricopeptide repeat domain 7A (TTC7A) gene. These patients usually have associated mild or severe combined immunodeficiency. Herein we report an infant with MIA and associated combined immunodeficiency (CID).

multiple intestinal atresia ; combined immunodeficiendy ; TTC7A mutation

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