Rare variants at 16p11.2 are associated with common variable immunodeficiency

Journal of Allergy and Clinical Immunology

Volumn 135, Issue 6, 2015, Pages 1569-1577

  Maggadottir, S Melkorka ^a   Li, Jin ^a   Glessner, Joseph T ^a   Li, Yun Rose ^a,h   Wei, Zhi ^b   Chang, Xiao ^a   Mentch, Frank D ^a   Thomas, Kelly A ^a   Kim, Cecilia E ^a   Zhao, Yan ^a   Hou, Cuiping ^a   Wang, Fengxiang ^a   Jørgensen, Silje F ^c   Perez, Elena E ^d   Sullivan, Kathleen E ^a   Orange, Jordan S ^e   Karlsen, Tom H ^c   Chapel, Helen ^f   Cunningham Rundles, Charlotte ^g   Hakonarson, Hakon ^a,h  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b University Heights   (United States)

^c OSLO UNIVERSITY HOSPITAL   (Norway)

^d UNIVERSITY OF SOUTH FLORIDA   (United States)

^e TEXAS CHILDREN S HOSPITAL   (United States)

^f UNIVERSITY OF OXFORD   (United Kingdom)

^g MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^h UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

genome wide association study; Immunodeficiency; immunogenetics; ITGAM; rare variants

Indexed keywords

C3 PROTEIN; CD11B ANTIGEN; CR2 PROTEIN; FLJ16124 PROTEIN; FUSED IN SARCOMA PROTEIN; ICOS PROTEIN; ITGAX PROTEIN; MSH5 PROTEIN; NCF2 PROTEIN; PROTEIN; PROTEIN KINASE LYN; TRANSMEMBRANE ACTIVATOR AND CAML INTERACTOR; UNCLASSIFIED DRUG; VAV1 PROTEIN; FUS PROTEIN, HUMAN; ITGAM PROTEIN, HUMAN; RNA BINDING PROTEIN;

ALLELE; ARTICLE; BRONCHIECTASIS; BURKITT LYMPHOMA; CHROMOSOME 16P; COMMON VARIABLE IMMUNODEFICIENCY; CONTROLLED STUDY; ENHANCER REGION; GENE FREQUENCY; GENE LOCUS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; IDIOPATHIC THROMBOCYTOPENIC PURPURA; IMMUNOCOMPETENT CELL; INTRON; LIVER HYPERPLASIA; LUNG CANCER; LUNG DISEASE; LUPUS ERYTHEMATOSUS NEPHRITIS; LYMPHOCYTE COUNT; MAJOR CLINICAL STUDY; MAJOR HISTOCOMPATIBILITY COMPLEX; MEMORY CELL; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN PROTEIN INTERACTION; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS; ADULT; B LYMPHOCYTE; CASE CONTROL STUDY; CHROMOSOME 16; CLINICAL TRIAL; COHORT ANALYSIS; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENETIC PREDISPOSITION; GENETICS; IMMUNOLOGICAL MEMORY; IMMUNOLOGY; MALE; METABOLISM; MULTICENTER STUDY; PATHOLOGY; PRESCHOOL CHILD;

ADULT; ANTIGENS, CD11B; B-LYMPHOCYTES; CASE-CONTROL STUDIES; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 16; COHORT STUDIES; COMMON VARIABLE IMMUNODEFICIENCY; ENHANCER ELEMENTS, GENETIC; FEMALE; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOLOGIC MEMORY; LINKAGE DISEQUILIBRIUM; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; RNA-BINDING PROTEIN FUS;

EID: 84941232213     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2014.12.1939     Document Type: Article

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