Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 15/11/2006
Symbol LYP
Location Xq25
HGNC id 6736
Name lymphoproliferative syndrome
Other name(s)
  • Purtilo syndrome
  • Duncan disease
    • Corresponding gene SH2D1A , CD244
    Other symbol(s) IMD5, XLP, XLP1, HLH
    Main clinical features
  • immunodeficiency and EBV susceptibility resulting in fatal infections mononucleosis, hypogamma-globulinemia
    • Genetic determination sex linked
    Related entries . including cases of non Hodgkin lymphoma in EBV negative boys and hemophagocytic lymphohistiocytoses
    Function/system disorder defense and immunity
    Type malignancy
    Gene product
    Name SH2 domain, protein 1A (SH2D1A)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   truncated protein stop codon
    Remark(s)