A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70

Journal of Experimental Medicine

Volumn 213, Issue 2, 2016, Pages 155-165

  Chan, Alice Y ^a   Punwani, Divya ^a   Kadlecek, Theresa A ^a   Cowan, Morton J ^a   Olson, Jean L ^b   Mathes, Erin F ^a,b   Sunderam, Uma ^c   Fu, Shu Man ^d   Srinivasan, Rajgopal ^c   Kuriyan, John ^a,e   Brenner, Steven E ^f   Weiss, Arthur ^a   Puck, Jennifer M ^a  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c TATA CONSULTANCY SERVICES   (India)

^d UNIVERSITY OF VIRGINIA   (United States)

^e LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8 ANTIBODY; PHYTOHEMAGGLUTININ; PROTEIN KINASE ZAP 70; STEROID; ANTIGEN T CELL RECEPTOR, ZETA CHAIN; LYMPHOCYTE ANTIGEN RECEPTOR; MUTANT PROTEIN; ZAP70 PROTEIN, HUMAN;

ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ARTICLE; AUTOIMMUNE DISEASE; BULLOUS PEMPHIGOID; CASE REPORT; COLITIS; CONTROLLED STUDY; DRUG MEGADOSE; ENZYME ACTIVE SITE; EXOME; FEMALE; GRAFT REJECTION; HEMARTHROSIS; HEMOPHILIA; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOTHYROIDISM; IMMUNOSUPPRESSIVE TREATMENT; INFANT; MALE; MISSENSE MUTATION; MYELOABLATIVE CONDITIONING; NEPHROTIC SYNDROME; PATHOGENESIS; PRIORITY JOURNAL; PROTEINURIA; ROTAVIRUS INFECTION; SEQUENCE ANALYSIS; STEROID THERAPY; T LYMPHOCYTE; T LYMPHOCYTE ACTIVATION; THYMOCYTE; ALLOTRANSPLANTATION; AMINO ACID SEQUENCE; ANIMAL; CELL LINE; CHEMISTRY; DEFICIENCY; ENZYMOLOGY; GENETICS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEMOPHILIA A; HETEROZYGOTE; IMMUNOLOGY; METABOLISM; MOLECULAR GENETICS; MOLECULAR MODEL; MOUSE; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; PROTEIN CONFORMATION; SEVERE COMBINED IMMUNODEFICIENCY; SIBLING; SYNDROME;

AMINO ACID SEQUENCE; ANIMALS; AUTOIMMUNE DISEASES; BASE SEQUENCE; CELL LINE; CHILD, PRESCHOOL; FEMALE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEMOPHILIA A; HETEROZYGOTE; HUMANS; INFANT; MALE; MICE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION, MISSENSE; PEDIGREE; PEMPHIGOID, BULLOUS; PHENOTYPE; PROTEIN CONFORMATION; RECEPTORS, ANTIGEN, T-CELL; SEVERE COMBINED IMMUNODEFICIENCY; SIBLINGS; SYNDROME; T-LYMPHOCYTES; TRANSPLANTATION, HOMOLOGOUS; ZAP-70 PROTEIN-TYROSINE KINASE;

EID: 84961157382     PISSN: 00221007     EISSN: 15409538     Source Type: Journal    
DOI: 10.1084/jem.20150888     Document Type: Article

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