Article
Polymorphisms in FAS and CASP8 genes may contribute to the development of ALPS phenotype: a study in 25 patients with probable ALPS.
The Turkish journal of pediatrics - 1 Jan 2000
Tan Çağman, Özgül Rıza Köksal, Çağdaş Ayvaz Deniz, Tezcan İlhan, Sanal Özden
Abstract excerpt
Defects in genes that have role in apoptotic pathways result in development of Autoimmune Lymphoproliferative Syndrome (ALPS) and ALPS related disorders. Germline and somatic FAS mutations, FASL and CASP10 mutations constitute other genetic defects in ALPS. Patients who fulfill ALPS diagnostic criteria and do not have any identified known disease causing mutations are classified as ALPS-unknown or ALPS phenotype...
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