X-linked lymphoproliferative disease due to SH2D1A deficiency
Findings
No curated finding names X-linked lymphoproliferative disease due to SH2D1A deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells.
Definition from the Mondo Disease Ontology (MONDO:0024551), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
24 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal natural killer cell physiologyHPOHP:0012177
- 1 of 1 reported patient
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 1 of 1 reported patient
- HypoalbuminemiaHPOHP:0003073
- 1 of 1 reported patient
- PancytopeniaHPOHP:0001876
- 1 of 1 reported patient
- Recurrent feverHPOHP:0001954
- 1 of 1 reported patient
- Decreased circulating immunoglobulin concentrationHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SH2D1AHGNC:10820
- Definitive · ClinGen · X-linked · 2025
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
- Strong · G2P · X-linked · 2022
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
1 name
Resolves to: X-linked lymphoproliferative disease due to SH2D1A deficiency
- Also called
- lymphoproliferative syndrome, X-linked, 1, X-linked recessive