Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene

Blood

Volumn 97, Issue 4, 2001, Pages 1131-1133

  Arico, M ^a   Imashuku, S ^a   Clementi, R ^a   Hibi, S ^a   Teramura, T ^a   Danesino, C ^a   Haber, D A ^a   Nichols, K E ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; SIGNALING LYMPHOCYTE ACTIVATION MOLECULE ASSOCIATED PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; EPSTEIN BARR VIRUS; FAMILY HISTORY; GENE MUTATION; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HEMOPHAGOCYTIC SYNDROME; HISTIOCYTOSIS; HUMAN; HUMAN TISSUE; LYMPHOPROLIFERATIVE DISEASE; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

EID: 0035865529     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.V97.4.1131     Document Type: Article

References (20)

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19. Crystal structures of the XLP protein SAP reveal a class of SH2 domains with extended, phosphotyrosine-independent sequence recognition
20. Diagnosis of X-linked lymphoproliferative disease by the analysis of SAP expression