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The New England Journal of Medicine, ISSN 0028-4793, 06/2009, Volume 360, Issue 26, pp. 2749 - 2757
...% of the predicted value. Should he be evaluated for alpha 1 -antitrypsin (AAT) deficiency? If AAT deficiency is documented, how should his case be managed... 
Proteins | Genotype & phenotype | Chronic obstructive pulmonary disease | Liver diseases | Emphysema
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2014, Volume 134, Issue 6, pp. 1354 - 1364.e6
.... Studies of monogenic diseases can provide insight into the pathogenesis of IBD. Objective We thought to determine the underlying molecular causes of IBD occurring in 2 unrelated families in association with an immune deficiency... 
Allergy and Immunology | Inflammatory bowel disease | immune deficiency | lymphocytes | RhoA kinase | cytoskeleton | gut organoid | cell homeostasis | tetratricopeptide repeat domain 7A deficiency | Duodenum | Inflammatory Bowel Diseases | Humans | Middle Aged | Child, Preschool | Infant | Male | rhoA GTP-Binding Protein | Pyloric Antrum | Mutation, Missense | Proteins | Young Adult | Alopecia | Lymphopenia | rho-Associated Kinases | Adolescent | Adult | Female | Colon | Child | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | rhoA GTP-Binding Protein - immunology | Alopecia - immunology | Inflammatory Bowel Diseases - immunology | Lymphopenia - pathology | rho-Associated Kinases - antagonists & inhibitors | Alopecia - genetics | Inflammatory Bowel Diseases - pathology | Inflammatory Bowel Diseases - genetics | Colon - pathology | Pyloric Antrum - pathology | Proteins - immunology | Alopecia - pathology | Proteins - genetics | Duodenum - pathology | rho-Associated Kinases - immunology | Lymphopenia - immunology | Lymphopenia - genetics | Developmental biology | Gastrointestinal diseases | Stem cells | Immunodeficiency | Autoimmunity | Baldness | Analysis | Lymphocytopenia | Studies | Parenteral nutrition | Mutation | Patients | Age | Immune system | Apoptosis
Journal Article
The New England journal of medicine, ISSN 1533-4406, 08/2011, Volume 365, Issue 7, pp. 620 - 628
Journal Article
American Journal of Cardiology, The, ISSN 0002-9149, 2016, Volume 118, Issue 12, pp. 1875 - 1880
Journal Article
American Journal of Pathology, ISSN 0002-9440, 04/2010, Volume 176, Issue 4, pp. 1983 - 1998
Journal Article
Journal Article