X-linked lymphoproliferative disease due to XIAP deficiency
Synonyms: XIAP deficiency syndrome · XLP2 · X-linked lymphoproliferative syndrome type 2
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
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 <i>XIAP</i> gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven hemophagocytic lymphohistiocytosis, hypogammaglobulinemia, recurrent splenomegaly, hepatitis, colitis, and intestinal bowel disease with features of Crohn's disease. Additional manifestations include variable auto-inflammatory symptoms such as uveitis, arthritis, skin abscesses, erythema nodosum, and nephritis. Neurological involvement is rare and lymphoma is never observed. Laboratory findings include normal or increased activated T cells, low or normal iNKT cells, and normal or reduced memory B cells.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked lymphoproliferative disease due to XIAP deficiency | XIAP deficiency syndrome · XLP2 · X-linked lymphoproliferative syndrome type 2 |
| fr | Maladie lymphoproliférative liée à l'X par déficit en XIAP | Maladie lymphoproliférative liée à l'X type 2 · Syndrome lymphoprolifératif lié à l'X type 2 · XLP2 |
| de | X-chromosomales lymphoproliferatives Syndrom durch XIAP-Mangel | X-chromosomales lymphoproliferatives Syndrom Typ 2 · XIAP-Defizienz-Syndrom · XIAP-Mangel-Syndrom · XLP2 |
| es | Enfermedad linfoproliferativa ligada al cromosoma X por deficiencia de XIAP | Síndrome de deficiencia de XIAP · Síndrome linfoproliferativo ligado al X tipo 2 · XLP2 |
| it | Malattia linfoproliferativa legata all'X da deficit di XIAP | |
| nl | X-gebonden lymfoproliferatieve ziekte door XIAP-deficiëntie | X-gebonden lymfoproliferatief syndroom type 2 · XIAP-deficiëntiesyndroom · XLP2 |
| pt | Doença linfoproliferativa ligada ao X por deficiência de XIAP | |
| pl | Choroba limfoproliferacyjna sprzężona z chromosomem X spowodowana niedoborem XIAP | = en |
| cs | X-vázané lymfoproliferativní onemocnění způsobené deficitem XIAP | XLP2 · XIAP deficit · X-vázaný lymfoproliferativní syndrom, typ 2 |
| uk | Х-зчеплене лімфопроліферативне захворювання, зумовлене дефіцитом XIAP | Синдром дефіциту XIAP · Х-зчеплений лімфопроліферативний синдром, тип 2 · XLP2 |
| zh | XIAP基因缺陷诱导的X连锁淋巴组织增生性疾病 | X连锁淋巴组织增生综合征2型 |
| tr | XIAP eksikliğine bağlı X'e bağlı lenfoproliferatif hastalık | XLP2 · XIAP eksikiği sendromu · X'e bağlı lenfoproliferatif sendrom tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300635 | E | validated | |
| ICD-10 | D82.3 | NTBT | inclusion | validated |
| ICD-11 | 4A01.22 | NTBT | index | validated |
| MONDO | 0010385 | E | validated | |
| MeSH | C564469 | E | validated | |
| UMLS | C1845076 | E | validated | |
| GARD | 10916 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:2442X-linked lymphoproliferative disease
rare genetic diseases; rare immunological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| XIAP | Disease-causing germline mutation(s) in | Assessed | HGNC:592 | ENSG00000101966 | 300079 | Xq25 | X-linked inhibitor of apoptosis | 20301580[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 29942301[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29942301[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
22 annotations · validated 2024-05-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002721 | Immunodeficiency | |
| Frequent (79-30%) | ||
| HP:0100280 | Crohn's disease | |
| HP:0012115 | Hepatitis | |
| HP:0005229 | Jejunoileal ulceration | |
| HP:0001876 | Pancytopenia | |
| HP:0001954 | Recurrent fever | |
| HP:0034799 | Splenic hemophagocytosis | |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0001369 | Arthritis | |
| HP:0030151 | Cholangitis | |
| HP:0002583 | Colitis | |
| HP:0031292 | Cutaneous abscess | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0012219 | Erythema nodosum | |
| HP:0002037 | Inflammation of the large intestine | |
| HP:0000123 | Nephritis | |
| HP:0002719 | Recurrent infections | |
| HP:0040218 | Reduced natural killer cell count | |
| HP:0000083 | Renal insufficiency | |
| HP:0031693 | Severe Epstein Barr virus infection | |
| HP:0000554 | Uveitis | |
| Very rare (<4-1%) | ||
| HP:0001399 | Hepatic failure | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 20301580[PMID]_25666262[PMID]_25737324[PMID]_24942515[PMID]_21119115[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/538934
- This record as JSON: /data/d/538934.json