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X-linked lymphoproliferative disease · XIAP
Example
What does the research say about X-linked lymphoproliferative disease?

Drawing from reference databases

Cyrus has X-linked lymphoproliferative disease (XLP) caused by a pathogenic frameshift variant in XIAP (c.1045_1048del, p.Glu349ArgfsTer12). This deletion falls within the region of the XIAP protein required for interaction with DIABLO, disrupting a key regulatory function. Inferred

Core clinical picture

XLP is characterized by an abnormal immune response, particularly to Epstein-Barr virus (EBV, the virus that causes mono). The major risks are: GeneReviews

  • Hemophagocytic lymphohistiocytosis (HLH): a life-threatening immune overactivation, often triggered by EBV infection, causing prolonged high fever, low blood counts, and liver/spleen enlargement. This is a medical emergency.
  • Inflammatory bowel disease: in the XIAP subtype, this is a recognized feature, often resembling Crohn's disease.

Inheritance

XLP follows an X-linked recessive pattern, meaning it primarily affects males. OrphanetGeneReviews

How rare is it?

XLP is extremely rare; prevalence is less than 1 in 1,000,000 in Europe. Orphanet

Database references (6)
Drawing from reference databases Cyrus has X-linked lymphoproliferative disease (XLP) caused by a pathogenic frameshift variant in XIAP (c.1045_1048del, p.Glu349ArgfsTer12). This deletion falls within the region of the XIAP protein required for interaction with DIABLO, disrupting a key regulatory function. Core clinical picture XLP is characterized by an abnormal immune response, particularly to Epstein-Barr virus (EBV, the virus that causes mono). The major risks are: Hemophagocytic lymphohistiocytosis (HLH): a life-threatening immune overactivation, often triggered by EBV infection, causing prolonged high fever, low blood counts, and liver/spleen enlargement. This is a medical emergency. Inflammatory bowel disease: in the XIAP subtype, this is a recognized feature, often resembling Crohn's disease. Inheritance XLP follows an X-linked recessive pattern, meaning it primarily affects males. How rare is it? XLP is extremely rare; prevalence is less than 1 in 1,000,000 in Europe.
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