Identification of Patients with RAG Mutations Previously Diagnosed with Common Variable Immunodeficiency Disorders

Journal of Clinical Immunology

Volumn 35, Issue 2, 2015, Pages 119-124

  Buchbinder, David ^a,h   Baker, Rebecca ^b   Lee, Yu Nee ^c   Ravell, Juan ^b   Zhang, Yu ^b   McElwee, Joshua ^d   Nugent, Diane ^a   Coonrod, Emily M ^e   Durtschi, Jacob D ^e   Augustine, Nancy H ^e,f   Voelkerding, Karl V ^e,f   Csomos, Krisztian ^g   Rosen, Lindsey ^b   Browne, Sarah ^b   Walter, Jolan E ^c,g   Notarangelo, Luigi D ^c   Hill, Harry R ^e,f   Kumánovics, Attila ^e,f  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d MERCK RESEARCH LABORATORIES   (United States)

^e ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^f UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^g HARVARD MEDICAL SCHOOL   (United States)

^h CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

Author keywords

common variable immunodeficiency disorder; exome sequencing; gene panel; primary immunodeficiency; RAG deficiency; RAG1; severe combined immune deficiency

Indexed keywords

B CELL ACTIVATING FACTOR RECEPTOR; CONCANAVALIN A; CORTICOSTEROID; HAEMOPHILUS INFLUENZAE TYPE B VACCINE; HEPATITIS B VACCINE; IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; INFLIXIMAB; PHYTOHEMAGGLUTININ; POKEWEED MITOGEN; PREDNISONE; RAG1 PROTEIN; RECOMBINASE; RHESUS D ANTIBODY; TETANUS TOXOID; TUMOR NECROSIS FACTOR ALPHA ANTIBODY; HOMEODOMAIN PROTEIN; RAG-1 PROTEIN;

ADOLESCENT; ADULT; ALLELE; ANTIBODY RESPONSE; ANTIBODY SCREENING; ANTIGEN SPECIFICITY; ARTICLE; AUTOPSY; CASE REPORT; CAUCASIAN; CELL PROLIFERATION; CHICKENPOX; CHRONIC DIARRHEA; CLINICAL EVALUATION; COMMON VARIABLE IMMUNODEFICIENCY; COMPUTER ASSISTED TOMOGRAPHY; CORTICOSTEROID THERAPY; CORYNEBACTERIUM; CORYNEBACTERIUM PROPINQUUM; DIFFERENTIAL DIAGNOSIS; DRUG RESPONSE; DRUG TREATMENT FAILURE; ENZYME ACTIVITY; EXOME; FEMALE; FORCED EXPIRATORY VOLUME; FORCED VITAL CAPACITY; FUNCTIONAL ASSESSMENT; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENE TARGETING; GRANULOMATOUS LYMPHOCYTIC INTERSTITIAL LUNG DISEASE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEPATOSPLENOMEGALY; HERPES ZOSTER; HETEROZYGOSITY; HETEROZYGOUS MUTATION; HUMAN; HUMAN TISSUE; IMMUNOGLOBULIN DEFICIENCY; IMMUNOTHERAPY; INTERSTITIAL LUNG DISEASE; INTERSTITIAL PNEUMONIA; LOSS OF FUNCTION MUTATION; LOWER RESPIRATORY TRACT INFECTION; LUNG BIOPSY; LUNG GRANULOMATOSIS; LUNG INFECTION; LUNG INFILTRATE; LYMPHOCYTOPENIA; MEDICAL HISTORY; NATURAL KILLER CELL; OPPORTUNISTIC INFECTION; PENICILLIUM; PHENOTYPE; PNEUMONIA; PRE B LYMPHOCYTE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PSEUDOMONAS AERUGINOSA; RECURRENT INFECTION; RESPIRATORY DISTRESS; SINOPULMONARY INFECTION; SUBSTITUTION THERAPY; TETANUS; THROMBOCYTOPENIC PURPURA; UPPER RESPIRATORY TRACT INFECTION; VACCINATION; VITILIGO; WILD TYPE; YOUNG ADULT; AGAMMAGLOBULINEMIA; BIOPSY; COMPLICATION; FATALITY; GENETICS; IMMUNOHISTOCHEMISTRY; LUNG DISEASES, INTERSTITIAL; LYMPHOPENIA; MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD;

AGAMMAGLOBULINEMIA; BIOPSY; CHILD, PRESCHOOL; COMMON VARIABLE IMMUNODEFICIENCY; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; IMMUNOHISTOCHEMISTRY; LUNG DISEASES, INTERSTITIAL; LYMPHOPENIA; MUTATION; TOMOGRAPHY, X-RAY COMPUTED; YOUNG ADULT;

EID: 84924372393     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-014-0121-5     Document Type: Article

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