ORPHA:436159
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Synonyms: ALPS due to CTLA4 haploinsuffiency · CHAI · CTLA-4 haploinsufficiency with autoimmune infiltration disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | ALPS due to CTLA4 haploinsuffiency · CHAI · CTLA-4 haploinsufficiency with autoimmune infiltration disease |
| fr | Syndrome lymphoprolifératif auto-immun dû à une haploinsuffisance de CTLA-4 | ALPS dû à une haploinsuffisance de CTLA-4 · CHAI · SLAI dû à une haploinsuffisance de CTLA-4 |
| de | Autoimmun-lymphoproliferatives Syndrom durch CTLA4-Haploinsuffizienz | ALPS durch CTLA4-Haploinsuffizienz · CHAI · CTLA4-Haploinsuffizienz mit Störung der autoimmunen Infiltration |
| es | Síndrome linfoproliferativo autoinmune por haploinsuficiencia de CTLA4 | ALPS por una haploinsuficiencia CTLA4 · CHAI · Haploinsuficiencia CTLA-4 con enfermedad de infiltración autoinmune |
| it | Sindrome linfoproliferativa autoimmune da aploinsufficienza di CTLA4 | ALPS da aploinsufficienza di CTLA4 · ALPS, tipo 5 · ALPS, tipo V · Aploinsufficienza di CTLA-4 con malatttia infiltrativa autoimmune · CHAI · Sindrome linfoproliferativa autoimmune, tipo 5 · Sindrome linfoproliferativa autoimmune, tipo V |
| nl | Auto-immuun lymfoproliferatief syndroom door CTLA4-haploinsufficiëntie | ALPS door CTLA4-haploinsufficiëntie · CHAI · CTLA4-haploinsufficiëntie met auto-immune infiltratieziekte |
| pt | Síndrome linfoproliferativo autoimune por haploinsuficiência CTLA4 | |
| pl | Autoimmunizacyjny zespół limfoproliferacyjny spowodowany haploinsuficjencją CTLA4 | ALPS spowodowany haploinsuficjencją CTLA4 · ALPS typu 5 · ALPS typu V · Autoimmunizacyjny zespół limfoproliferacyjny typu 5 · Autoimmunizacyjny zespół limfoproliferacyjny typu V · CHAI · Haploinsuficjencja CTLA-4 z autoimmunologiczną chorobą naciekową |
| cs | Autoimunitní lymfoproliferativní syndrom způsobený CTLA4 haploinsuficiencí | ALPS, typ 5 · ALPS, typ V · Autoimunitní lymfoproliferativní syndrom, typ 5 · CHAI · ALPS způsobený CTLA4 haploinsuficiencí · CTLA-4 haploinsuficience s autoimunitním infiltračním onemocněním |
| uk | Аутоімунний лімфопроліферативний синдром, зумовлений гаплонедостатністю CTLA4 | ALPS внаслідок гаплонедостатності CTLA4 · CHAI · CTLA-4 гаплонедостатність з аутоімунною інфільтративною хворобою |
| zh | CTLA4单倍剂量不足所致自身免疫性淋巴增生综合征 | CTLA-4单倍体剂量不足合并自身免疫性浸润性疾病 |
| tr | CTLA4 haployetmezliğe bağlı otoimmün lenfoproliferatif sendrom | CHAI · CTLA4 haplo yetersizliğine bağlı ALPS · Otoimmün infiltrasyon hastalığı ile seyreden CTLA-4 haployetmezliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616100 | E | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.21 | NTBT | index | validated |
| MONDO | 0014493 | E | validated | |
| UMLS | C4015214 | E | validated | |
| GARD | 12316 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:169355Immunodeficiency syndrome with autoimmunity
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:664450Inherited cancer-predisposing lymphoproliferative syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:522043Syndromic autoimmune enteropathy
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CTLA4 | Disease-causing germline mutation(s) in | Assessed | HGNC:2505 | ENSG00000163599 | 123890 | 2q33.2 | cytotoxic T-lymphocyte associated protein 4 | 25213377[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 25213377[PMID]_25329329[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25213377[PMID]_25329329[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.
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HPO phenotypes
31 annotations · validated 2022-12-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004313 | Decreased circulating antibody level | |
| Frequent (79-30%) | ||
| HP:0001047 | Atopic dermatitis | |
| HP:0001890 | Autoimmune hemolytic anemia | |
| HP:0001973 | Autoimmune thrombocytopenia | |
| HP:0002720 | Decreased circulating IgA level | |
| HP:0004315 | Decreased circulating IgG level | |
| HP:0002850 | Decreased circulating total IgM | |
| HP:0002014 | Diarrhea | |
| HP:0002240 | Hepatomegaly | |
| HP:0002716 | Lymphadenopathy | |
| HP:0002090 | Pneumonia | |
| HP:0002783 | Recurrent lower respiratory tract infections | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0002582 | Atrophic gastritis | |
| HP:0002110 | Bronchiectasis | |
| HP:0100280 | Crohn's disease | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0001510 | Growth delay | |
| HP:0002037 | Inflammation of the large intestine | |
| HP:0032216 | Lymphocytic infiltration of the colorectal mucosa | |
| HP:0002665 | Lymphoma | |
| HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | |
| HP:0003765 | Psoriasiform dermatitis | |
| HP:0005401 | Recurrent candida infections | |
| HP:0100806 | Sepsis | |
| HP:0100646 | Thyroiditis | |
| HP:0100651 | Type I diabetes mellitus | |
| Very rare (<4-1%) | ||
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0100653 | Optic neuritis | |
| HP:0012410 | Pure red cell aplasia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 35154081[PMID]_29729943[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/436159
- This record as JSON: /data/d/436159.json