X-linked lymphoproliferative disease
X-kromoszómához kötött recesszív
Severe EBV infection, HLH, low antibodies and lymphoma risk caused by changes in SH2D1A (XLP1) or XIAP (XLP2).
Mit változtat a diagnózis
Stem cell transplantation can be curative for XLP1; diagnosis also guides HLH treatment, immunoglobulin replacement and testing of relatives.
Más néven
Duncan disease; lymphoproliferative syndrome X-linked 1; X linked Lymphoproliferative Syndrome; X-linked lymphoproliferative syndrome type 1; Purtilo syndrome; SH2D1A-related lymphoproliferative disease, X-linked; XLP; XLP1
2 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- X-linked lymphoproliferative disease due to SH2D1A deficiency
- X-linked lymphoproliferative disease due to XIAP deficiency
