Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency

Journal of Allergy and Clinical Immunology

Volumn 134, Issue 6, 2014, Pages 1354-1364.e6

  Lemoine, Roxane ^a,b   Pachlopnik Schmid, Jana ^a,b   Farin, Henner F ^c   Bigorgne, Amélie ^a,b   Debré, Marianne ^a   Sepulveda, Fernando ^a,b   Héritier, Sébastien ^a   Lemale, Julie ^d   Talbotec, Cécile ^a   Rieux Laucat, Frédéric ^a,b   Ruemmele, Frank ^a   Morali, Alain ^a   Cathebras, Pascal ^e   Nitschke, Patrick ^b   Bole Feysot, Christine ^b   Blanche, Stéphane ^a,b   Brousse, Nicole ^a,b   Picard, Capucine ^a,b,f   Clevers, Hans ^c   Fischer, Alain ^a,b,g   De Saint Basile, Geneviève ^a,b,f   more..

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d ARMAND TROUSSEAU HOSPITAL   (France)

^e UNIVERSITY HOSPITAL OF SAINT ETIENNE   (France)

^f ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^g l'alimentation et l'Environnement   (France)

Author keywords

cell homeostasis; cytoskeleton; gut organoid; immune deficiency; Inflammatory bowel disease; lymphocytes; RhoA kinase; tetratricopeptide repeat domain 7A deficiency

Indexed keywords

CD28 ANTIGEN; CD3 ANTIBODY; CHEMOKINE RECEPTOR CCR7; CHEMOKINE RECEPTOR CXCR4; INTERCELLULAR ADHESION MOLECULE 1; MYOSIN LIGHT CHAIN 2; RHO KINASE INHIBITOR; RHOA GUANINE NUCLEOTIDE BINDING PROTEIN; TETRATRICOPEPTIDE REPEAT DOMAIN 7A PROTEIN; TETRATRICOPEPTIDE REPEAT PROTEIN; UNCLASSIFIED DRUG; VASCULAR CELL ADHESION MOLECULE 1; PROTEIN; RHO KINASE; RHOA PROTEIN, HUMAN; TTC7A PROTEIN, HUMAN;

ADOLESCENT; ADULT; ALOPECIA; ARTICLE; AUTOIMMUNITY; CELL ADHESION; CELL CYCLE PROGRESSION; CELL MIGRATION; CELL PROLIFERATION; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; CYTOPLASM; CYTOSKELETON; ENTEROPATHY; ENTEROPATHY LYMPHOCYTOPENIA ALOPECIA SYNDROME; FEMALE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GENETIC LINKAGE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNE DEFICIENCY; INFANT; INTESTINE BIOPSY; INTESTINE EPITHELIUM; LYMPHOCYTE; LYMPHOCYTE FUNCTION; LYMPHOCYTOPENIA; MALE; MISSENSE MUTATION; PERIPHERAL BLOOD MONONUCLEAR CELL; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PROTEIN DEPLETION; PROTEIN EXPRESSION; SIGNAL TRANSDUCTION; TETRATRICOPEPTIDE REPEAT; WILD TYPE; ANTAGONISTS AND INHIBITORS; COLON; DUODENUM; GENETICS; IMMUNOLOGY; INFLAMMATORY BOWEL DISEASE; MIDDLE AGED; PATHOLOGY; STOMACH ANTRUM; YOUNG ADULT;

ADOLESCENT; ADULT; ALOPECIA; CHILD; CHILD, PRESCHOOL; COLON; DUODENUM; FEMALE; HUMANS; INFANT; INFLAMMATORY BOWEL DISEASES; LYMPHOPENIA; MALE; MIDDLE AGED; MUTATION, MISSENSE; PROTEINS; PYLORIC ANTRUM; RHO-ASSOCIATED KINASES; RHOA GTP-BINDING PROTEIN; YOUNG ADULT;

EID: 84919599348     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2014.07.019     Document Type: Article

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