Combined immunodeficiency with intestinal atresias
Related gene: TTC7A
Inheritance pattern: Autosomal recessive
Combined immunodeficiency with intestinal atresias (CID-IA) is a rare, severe disorder in which parts of the small intestine fail to develop properly. It presents in early infancy due to the inability to feed as well as profound susceptibility to illnesses, most notably due to enteric bacteria. Surgical intervention and parenteral nutrition have been helpful in some cases. Ig replacement therapy and preventative antibiotics are often indicated, and in the setting of profound lymphopenia, hematopoietic stem cell transplantation (HSCT) has been successful in some cases in correcting the immunodeficiency associated with CID-IA. Though reported cases are very limited, outcomes have been guarded in this disorder due to extreme difficulty in correcting the intestinal abnormalities and preventing life-threatening infections.