Exome Sequencing Analysis Reveals Variants in Primary Immunodeficiency Genes in Patients with Very Early Onset Inflammatory Bowel Disease

Gastroenterology

Volumn 149, Issue 6, 2015, Pages 1415-1424

  Kelsen, Judith R ^a   Dawany, Noor ^a   Moran, Christopher J ^b   Petersen, Britt Sabina ^c   Sarmady, Mahdi ^a   Sasson, Ariella ^a   Pauly Hubbard, Helen ^a   Martinez, Alejandro ^a   Maurer, Kelly ^a   Soong, Joanne ^d   Rappaport, Eric ^a   Franke, Andre ^c   Keller, Andreas ^e   Winter, Harland S ^b   Mamula, Petar ^a   Piccoli, David ^a   Artis, David ^d   Sonnenberg, Gregory F ^d   Daly, Mark ^b,f   Sullivan, Kathleen E ^a   Baldassano, Robert N ^a   Devoto, Marcella ^a,g,h   more..

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c UNIVERSITY OF KIEL   (Germany)

^d WEILL CORNELL MEDICAL COLLEGE   (United States)

^e SAARLAND UNIVERSITY   (Germany)

^f BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^g UNIVERSITY OF PENNSYLVANIA   (United States)

^h SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Common Variable Immune Deficiency; CVID; IBD; Inherited Defects; Innate and Adaptive Immunity

Indexed keywords

ANTIBIOTIC AGENT; DNA; GAMMA INTERFERON; IMMUNOGLOBULIN A; IMMUNOGLOBULIN E; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; IMMUNOMODULATING AGENT; INFLIXIMAB; INTERLEUKIN 10; INTERLEUKIN 10 RECEPTOR ALPHA; MESALAZINE; STAT3 PROTEIN; TUMOR NECROSIS FACTOR ALPHA; CD19 ANTIGEN; CELL CYCLE PROTEIN; MSH5 PROTEIN, HUMAN;

ARTICLE; B LYMPHOCYTE; CD3+ T LYMPHOCYTE; CD4+ T LYMPHOCYTE; CELL DIFFERENTIATION; CHILD; CHRONIC GRANULOMATOUS DISEASE; COHORT ANALYSIS; COLON RESECTION; COLONOSCOPY; CONTROLLED STUDY; CROHN DISEASE; CYTOKINE PRODUCTION; CYTOKINE RESPONSE; DIARRHEA; DISEASE ACTIVITY; DISEASE COURSE; DISEASE SEVERITY; DNA DETERMINATION; ENDOSCOPY; EXOME; EXON; FAMILY HISTORY; FEMALE; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC PROCEDURES; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; ILEOSTOMY; IMMUNOGLOBULIN BLOOD LEVEL; IN VITRO STUDY; INFANT; INFLAMMATORY BOWEL DISEASE; INTESTINE BIOPSY; KERATOSIS; LYMPHOCYTE COUNT; MAJOR CLINICAL STUDY; MALE; MEMORY CELL; MISSENSE MUTATION; ONSET AGE; PERIPHERAL BLOOD MONONUCLEAR CELL; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; QUANTITATIVE ANALYSIS; T LYMPHOCYTE; WHOLE EXOME SEQUENCING; WISKOTT ALDRICH SYNDROME; ADOLESCENT; ADULT; AGING; DNA SEQUENCE; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; GERMANY; HIGH THROUGHPUT SEQUENCING; IMMUNE DEFICIENCY; IMMUNOLOGY; MIDDLE AGED; MUTATION; NEWBORN;

ADOLESCENT; ADULT; AGING; ANTIGENS, CD19; CELL CYCLE PROTEINS; CHILD; CHILD, PRESCHOOL; EXOME; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GERMANY; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; INFANT, NEWBORN; INFLAMMATORY BOWEL DISEASES; INTERLEUKIN-10 RECEPTOR ALPHA SUBUNIT; MALE; MIDDLE AGED; MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 84945538158     PISSN: 00165085     EISSN: 15280012     Source Type: Journal    
DOI: 10.1053/j.gastro.2015.07.006     Document Type: Article

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