X-linked lymphoproliferative disease due to XIAP deficiency
Findings
No curated finding names X-linked lymphoproliferative disease due to XIAP deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2.
Definition from the Mondo Disease Ontology (MONDO:0010385), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked inheritance
HPO, annotations 2026-09-02
Features
27 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.
- FeverHPOHP:0001945
- 9 of 10 reported patients
- SplenomegalyHPOHP:0001744
- 9 of 10 reported patients
- Frequent (30% to 79% of cases)
- HepatitisHPOHP:0012115
- 8 of 9 reported patients
- Frequent (30% to 79% of cases)
- HypertriglyceridemiaHPOHP:0002155
- 7 of 8 reported patients
- HypofibrinogenemiaHPOHP:0011900
- 7 of 8 reported patients
- Increased circulating ferritin concentrationHPOHP:0003281
- 7 of 8 reported patients
Show the remaining 15
- HemophagocytosisHPOHP:0012156
- 4 of 9 reported patients
- ArthritisHPOHP:0001369
- Occasional (5% to 29% of cases)
- CholangitisHPOHP:0030151
- Occasional (5% to 29% of cases)
- ColitisHPOHP:0002583
- Occasional (5% to 29% of cases)
- Cutaneous abscessHPOHP:0031292
- Occasional (5% to 29% of cases)
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- Occasional (5% to 29% of cases)
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.
- XIAPHGNC:592
- Definitive · ClinGen · X-linked · 2026
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
6 names
Resolves to: X-linked lymphoproliferative disease due to XIAP deficiency
- Also called
- lymphoproliferative syndrome, X-linked, 2, X-linked recessivelymphoproliferative syndrome, X-linked, type 2X-linked lymphoproliferative syndrome type 2XIAP deficiencyXIAP deficiency/XLPsXLP2