The -346T polymorphism of the SH2D1A gene is a risk factor for development of autoimmunity/lymphoproliferation in males with defective Fas function

Human Immunology

Volumn 73, Issue 5, 2012, Pages 585-592

  Boggio, Elena ^a   Melensi, Matteo ^a   Bocca, Sara ^a   Chiocchetti, Annalisa ^a   Comi, Cristoforo ^a,b   Clemente, Nausicaa ^a   Orilieri, Elisabetta ^a   Soluri, Maria Felicia ^a   D'Alfonso, Sandra ^a   Mechelli, Rosella ^c   Gentile, Giovanna ^c   Poggi, Alessandro ^d   Salvetti, Marco ^c   Ramenghi, Ugo ^e   Dianzani, Umberto ^a  

^a UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^b Neurorehabilitation Center   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d UNIVERSITY OF GENOA   (Italy)

^e UNIVERSITY OF TURIN   (Italy)

Author keywords

Autoimmune Lymphoproliferation; Fas; SAP; XLP

Indexed keywords

FAS ANTIGEN; GAMMA INTERFERON; INTERLEUKIN 10; INTERLEUKIN 17; INTERLEUKIN 4; SIGNALING LYMPHOCYTE ACTIVATION MOLECULE ASSOCIATED PROTEIN;

ARTICLE; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; CD8+ T LYMPHOCYTE; CELL PROLIFERATION; CONTROLLED STUDY; DIANZANI AUTOIMMUNE LYMPHOPROLIFERATIVE DISEASE; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC RISK; HUMAN; HUMAN CELL; IN VITRO STUDY; MAJOR CLINICAL STUDY; MALE; METHYLATION; MULTIPLE SCLEROSIS; NATURAL KILLER CELL; PRIORITY JOURNAL; SEX DIFFERENCE; X CHROMOSOME;

ALLELES; ANTIGENS, CD95; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; CASE-CONTROL STUDIES; CD8-POSITIVE T-LYMPHOCYTES; CHILD; CHROMOSOMES, HUMAN, X; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; HUMANS; INTERFERON-GAMMA; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KILLER CELLS, NATURAL; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; RISK FACTORS; SEX FACTORS;

EID: 84860233619     PISSN: 01988859     EISSN: 18791166     Source Type: Journal    
DOI: 10.1016/j.humimm.2012.02.025     Document Type: Article

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