Novel Exonic Deletions in TTC7A in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency
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To the Editor:
Hereditary multiple intestinal atresia and combined immunodeficiency (MIA-CID, also referred to as gastrointestinal defects and immunodeficiency syndrome (GIDID); OMIM: 243150; reviewed in Jardine and Muise 2019 ) is an extremely rare and typically lethal disorder. This condition is characterized by multiple intestinal obstructions with atretic sites occurring throughout the small and large intestines. In addition, the gastrointestinal manifestations can include very early onset inflammatory bowel disease (VEOIBD). These intestinal features are associated with a spectrum of immunodeficiency, ranging from mild lymphocytopenia to severe combined immunodeficiency. Total parental nutrition (TPN) dependence and recurrent bouts of sepsis caused largely by intestinal bacteria make the prognosis very poor , with very few children surviving beyond the first years of life. The genetic basis of this condition has recently been linked to autosomal recessive mutations in TTC7A...
KeywordsMultiple intestinal atresia combined immunodeficiency TTC7A VEOIBD
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Conflict of Interest
The authors declare that they have no conflict of interest.
- 1.Jardine S, Dhingani N, Muise AM. TTC7A: steward of intestinal health. Cell Mol Gastroenterol Hepatol 2018:Google Scholar