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Condition report · Immunological

X-Linked Lymphoproliferative Disease (XLP)

X-linked conditions that leave boys unable to control Epstein-Barr virus (EBV) and other infections, leading to haemophagocytic lymphohistiocytosis (HLH), low antibodies, lymphoma or, in XLP2, colitis. Genes are SH2D1A (XLP1), XIAP (XLP2) and MAGT1 (XMEN disease).

A condition report looks for rare variants known to cause the conditions it covers.

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The 2 conditions we analyse

X-linked lymphoproliferative disease

X-linked recessive

Severe EBV infection, HLH, low antibodies and lymphoma risk caused by changes in SH2D1A (XLP1) or XIAP (XLP2).

What a diagnosis changes

Stem cell transplantation can be curative for XLP1; diagnosis also guides HLH treatment, immunoglobulin replacement and testing of relatives.

Genes analysed

Also known as

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

Includes 2 related subtypes ↓
  • X-linked lymphoproliferative disease due to SH2D1A deficiency
  • X-linked lymphoproliferative disease due to XIAP deficiency
MONDO:0010627Orphanet 2442MedGen 107498

XMEN disease (MAGT1)

X-linked recessive

Chronic EBV infection, low CD4 cells, lymphoma risk and glycosylation defects caused by changes in MAGT1.

What a diagnosis changes

Diagnosis guides EBV monitoring and lymphoma surveillance.

Genes analysed

Also known as

Cid due to MAGT1 deficiency; combined immunodeficiency due to MAGT1 deficiency; immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked recessive; immunodeficiency, X-linked, with magnesium defect, Epstein-Barr VIRUS infection, and neoplasia; X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia; XMEN

MONDO:0010455OMIM 300853Orphanet 317476MedGen 477076

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