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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.

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This page contains general medical and/or legal information that cannot be applied safely to any individual case. Medical and/or legal knowledge and practice can change rapidly. Therefore, this page should not be used as a substitute for professional medical and/or legal advice.

Adapted from the IDF Patient & Family Handbook for Primary Immunodeficiency Diseases, Sixth Edition 
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