Introduction: Multiple intestinal atresia with combined immune deficiency (MIA-CID) is a rare autosomal recessive disorder. MIA-CID can also be combined with inflammatory bowel disease IBD (VEO-MIA-CID)
Case Report: a male in the first weeks of his life, he presented growth delay and feeding intolerance; urinary infection was suspected and treated with antibiotics.
At the age of three months, he developed bloody diarrhea in addition to growth delay and feeding intolerance. A high digestive endoscopy was performed with diagnoses of esophageal and rectum stenosis with friable and swollen mucosa. The patient’s clinical course was complicated by multiple episodes of sepsis caused by central lines or intestinal bacteria, such as Enterobacter cloacae and Klebsiella pneumoniae.
Immunological assessment showed severe hypogammaglobulinemia with normal lymphocyte subset and proliferation assay.
The colonic histology revealed erosive active chronic rectitis, caliciform cells depletion, glandular distortion/atrophy, leading to the diagnosis of very early onset inflammatory bowel disease (VEO-IBD), suggestive of Crohn’s type inflammatory disease.
Immediately tacrolimus was began with stable course of inflammatory disease in the follow control, 8 weeks later. He continuous with total parenteral nutrition and subcutaneous immunoglobulin replacement.
Genetic analysis confirmed a heterozygous C.1576C>T (p.Gln526*) mutation in the TTC7A gene, compatible with multiple intestinal atresia with inflammatory bowel disease and primary immunodeficiency (MIA-IBD-PID) syndrome.
Currently he is with Leflunamide treatment.
Discussion: the advent of next-generation sequencing has led to an improved recognition of single gene defects underlying some cases of inflammatory bowel disease. This case represent the relevance in molecular diagnosis to target treatment in VEO IBD.