Lessons in gene hunting: A RAG1 mutation presenting with agammaglobulinemia and absence of B cells

Journal of Allergy and Clinical Immunology

Volumn 134, Issue 4, 2014, Pages 983-985.e1

  Hedayat, Mona ^a   Massaad, Michel J ^a   Lee, Yu Nee ^a   Conley, Mary Ellen ^b   Orange, Jordan S ^c   Ohsumi, Toshiro K ^d   Al Herz, Waleed ^e   Notarangelo, Luigi D ^a   Geha, Raif S ^a   Chou, Janet ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b ROCKEFELLER UNIVERSITY   (United States)

^c TEXAS CHILDREN S HOSPITAL   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e KUWAIT UNIVERSITY   (Kuwait)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CD3 ANTIBODY; CD45RO ANTIGEN; GLUTAMINE; IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; PHYTOHEMAGGLUTININ; RAG1 PROTEIN; SIGNAL PEPTIDE; DNA; HOMEODOMAIN PROTEIN; RAG-1 PROTEIN;

ABSENT B LYMPHOCYTE; AGAMMAGLOBULINEMIA; AMINO ACID SUBSTITUTION; B LYMPHOCYTE; CASE REPORT; CAUSE OF DEATH; CD3+ T LYMPHOCYTE; CD4+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; COLITIS; COLONOSCOPY; COMBINED IMMUNODEFICIENCY; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINEOUS MARRIAGE; CYTOMEGALOVIRUS INFECTION; DIARRHEA; DNA SEQUENCE; ENDOSCOPY; ENGRAFTMENT; ESOPHAGUS CANDIDIASIS; FAILURE TO THRIVE; FEVER; FLOW CYTOMETRY; GENE; GENE MUTATION; GRANULOMA; HETEROZYGOSITY; HLA TYPING; HOMOZYGOSITY; HUMAN; IMMUNE DEFICIENCY; IMMUNOGLOBULIN BLOOD LEVEL; LETTER; LYMPHOCYTE COUNT; LYMPHOCYTE PROLIFERATION; LYMPHOCYTOPENIA; NATURAL KILLER CELL; OTITIS MEDIA; PHENOTYPE; PHYSICAL EXAMINATION; PNEUMONIA; PROTEIN BINDING; RAG1 GENE; RECURRENT INFECTION; RETINITIS; SALMONELLA ENTERITIDIS; SEPSIS; T LYMPHOCYTE RECEPTOR GENE; THYMUS; VIREMIA; CHILD; COMPLICATION; DISEASE COURSE; EARLY DIAGNOSIS; FATALITY; GENETIC SCREENING; GENETICS; GENOME; HOMOZYGOTE; IMMUNOLOGY; INFANT; LYMPHOCYTE DEPLETION; MALE; MUTATION; OPPORTUNISTIC INFECTIONS; PEDIGREE; PRESCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; T LYMPHOCYTE;

AGAMMAGLOBULINEMIA; B-LYMPHOCYTES; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; DNA; EARLY DIAGNOSIS; FATAL OUTCOME; GENETIC TESTING; GENOME; HOMEODOMAIN PROTEINS; HOMOZYGOTE; HUMANS; INFANT; KILLER CELLS, NATURAL; LYMPHOCYTE DEPLETION; MALE; MUTATION; OPPORTUNISTIC INFECTIONS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; T-LYMPHOCYTES;

EID: 84908147862     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2014.04.037     Document Type: Article

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