Ontology highlight
ABSTRACT:
SUBMITTER: Bigorgne AE
PROVIDER: S-EPMC3871247 | biostudies-literature | 2014 Jan
REPOSITORIES: biostudies-literature
Bigorgne Amélie E AE Farin Henner F HF Lemoine Roxane R Mahlaoui Nizar N Lambert Nathalie N Gil Marine M Schulz Ansgar A Philippet Pierre P Schlesser Patrick P Abrahamsen Tore G TG Oymar Knut K Davies E Graham EG Ellingsen Christian Lycke CL Leteurtre Emmanuelle E Moreau-Massart Brigitte B Berrebi Dominique D Bole-Feysot Christine C Nischke Patrick P Brousse Nicole N Fischer Alain A Clevers Hans H de Saint Basile Geneviève G
The Journal of clinical investigation 20140101 1
Multiple intestinal atresia (MIA) is a rare cause of bowel obstruction that is sometimes associated with a combined immunodeficiency (CID), leading to increased susceptibility to infections. The factors underlying this rare disease are poorly understood. We characterized the immunological and intestinal features of 6 unrelated MIA-CID patients. All patients displayed a profound, generalized lymphocytopenia, with few lymphocytes present in the lymph nodes. The thymus was hypoplastic and exhibited ...[more]