Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias

Journal of Allergy and Clinical Immunology

Volumn 132, Issue 3, 2013, Pages

  Chen, Rui ^a   Giliani, Silvia ^a   Lanzi, Gaetana ^a   Mias, George I ^a   Lonardi, Silvia ^b   Dobbs, Kerry ^b   Manis, John ^c   Im, Hogune ^a   Gallagher, Jennifer E ^a   Phanstiel, Douglas H ^a   Euskirchen, Ghia ^a   Lacroute, Philippe ^a   Bettinger, Keith ^a   Moratto, Daniele ^a   Weinacht, Katja ^c   Montin, Davide ^c   Gallo, Eleonora ^c   Mangili, Giovanna ^c   Porta, Fulvio ^d   Notarangelo, Lucia D ^d   Pedretti, Stefania ^e   Al Herz, Waleed ^f   Alfahdli, Wasmi ^f   Comeau, Anne Marie ^g   Traister, Russell S ^h   Pai, Sung Yun ⁱ   Carella, Graziella ^j   Facchetti, Fabio ^b   Nadeau, Kari C ^k   Snyder, Michael ^a   Notarangelo, Luigi D ^b,k   more..

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF BRESCIA   (Italy)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d UNIVERSITY OF TURIN   (Italy)

^e OSPEDALI RIUNITI   (Italy)

^f SPEDALI CIVILI   (Italy)

^g AL SABAH HOSPITAL   (Kuwait)

^h IBN SINA HOSPITAL   (Kuwait)

ⁱ UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^j CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^k HARVARD STEM CELL INSTITUTE   (United States)

more..

Author keywords

Combined immunodeficiency with multiple intestinal atresias; tetratricopeptide repeat domain 7A; thymus; whole exome sequencing

Indexed keywords

MESSENGER RNA; TETRATRICOPEPTIDE REPEAT PROTEIN; TETRATRICOPEPTIDE REPEAT PROTEIN 7A; UNCLASSIFIED DRUG;

ABDOMINAL ABSCESS; ANTIBODY RESPONSE; ANUS ATRESIA; ARTICLE; CANDIDA ALBICANS; CD8+ T LYMPHOCYTE; CLINICAL ARTICLE; COMBINED IMMUNODEFICIENCY; DYSPNEA; ESCHERICHIA COLI; EVOKED VISUAL RESPONSE; EXOME; FAILURE TO THRIVE; FRAMESHIFT MUTATION; GENE SEQUENCE; HEPATOSPLENOMEGALY; HETEROZYGOTE; HUMAN; IMMUNOGLOBULIN DEFICIENCY; INTESTINE ATRESIA; INTESTINE TRANSPLANTATION; MECONIUM PERITONITIS; MESENTERY LYMPH NODE; MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PSEUDOMONAS AERUGINOSA; PYLORUS STENOSIS; TETRATRICOPEPTIDE REPEAT; THYMOCYTE; TOTAL PARENTERAL NUTRITION; WHOLE EXOME SEQUENCING;

EID: 84883247339     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2013.06.013     Document Type: Article

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