ORPHA:911
Combined immunodeficiency due to ZAP70 deficiency
Synonyms: Zeta-associated-protein 70 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency due to ZAP70 deficiency | Zeta-associated-protein 70 deficiency |
| fr | Déficit immunitaire combiné par déficit en ZAP70 | Déficit en protéine kinase associée à la chaîne zêta |
| de | Immundefekt, kombinierter, durch ZAP70-Mangel | ZAP-70-Mangel · Zetakette-assoziierte Proteinkinase 70-Mangel |
| es | Inmunodeficiencia combinada por deficiencia de ZAP70 | Deficiencia de proteína 70 asociada a zeta |
| it | Immunodeficienza combinata da deficit di ZAP70 | Deficit della proteina associata alla catena zeta-70 |
| nl | Gecombineerde immuundeficiëntie door ZAP70-deficiëntie | Zèta-geassocieerd proteïnekinase 70-deficiëntie |
| pt | Imunodeficiência combinada por deficiência de ZAP70 | Deficiência de proteína cinase 70 associada à cadeia zeta |
| pl | Złożony Niedobór odporności z powodu deficytu ZAP70 | Niedobór białak 70 związanego z łańcuchem zeta |
| cs | Kombinovaný imunodeficit způsobený deficitem ZAP70 | Deficit zeta-asociovaného proteinu 70 |
| uk | Комбінований імунодефіцит, зумовлений дефіцитом ZAP70 | Дефіцит бета-асоційованого протеїну 70 |
| zh | ZAP70缺乏所致联合免疫缺陷 | ζ-链相关蛋白70缺乏 |
| tr | ZAP70 eksikliğine bağlı kombine immün yetmezlik | Zeta-ilişkili protein 70 eksikliği |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 269840 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | index | validated |
| MONDO | 0010023 | E | validated | |
| MeSH | C536722 | E | validated | |
| UMLS | C2931299 | E | validated | |
| GARD | 387 | 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 (2):
- ORPHA:718072Combined immunodeficiency with low CD8 and normal CD4
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:717757Rare immune disease with inflammatory bowel disease
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 |
|---|---|---|---|---|---|---|---|---|
| ZAP70 | Disease-causing germline mutation(s) in | Assessed | HGNC:12858 | ENSG00000115085 | 176947 | 2q11.2 | zeta chain of T-cell receptor associated protein kinase 70 | 20301777[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
30 annotations · validated 2019-04-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031381 | Decreased lymphocyte proliferation in response to mitogen | |
| HP:0002718 | Recurrent bacterial infections | |
| HP:0005390 | Recurrent opportunistic infections | |
| HP:0004429 | Recurrent viral infections | |
| Frequent (79-30%) | ||
| HP:0005422 | Absence of CD8-positive T cells | |
| HP:0002028 | Chronic diarrhea | |
| HP:0009098 | Chronic oral candidiasis | |
| HP:0005415 | Decreased proportion of CD8-positive T cells | |
| HP:0001508 | Failure to thrive | |
| HP:0002090 | Pneumonia | |
| HP:0004798 | Recurrent infection of the gastrointestinal tract | |
| HP:0200117 | Recurrent upper and lower respiratory tract infections | |
| Occasional (29-5%) | ||
| HP:0002733 | Abnormality of the lymph nodes | |
| HP:0002728 | Chronic mucocutaneous candidiasis | |
| HP:0002583 | Colitis | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0001880 | Increased total eosinophil count | |
| HP:0002840 | Lymphadenitis | |
| HP:0002716 | Lymphadenopathy | |
| HP:0100827 | Lymphocytosis | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0005406 | Recurrent bacterial skin infections | |
| HP:0011274 | Recurrent mycobacterial infections | |
| HP:0000988 | Skin rash | |
| HP:0010280 | Stomatitis | |
| HP:0001297 | Stroke | |
| Very rare (<4-1%) | ||
| HP:0001890 | Autoimmune hemolytic anemia | |
| HP:0001973 | Autoimmune thrombocytopenia | |
| HP:0002665 | Lymphoma | |
| HP:0005523 | Lymphoproliferative disorder | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 30778343[PMID]_20301777[PMID]_11412303[PMID]_1333922[PMID]_2511270[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/911
- This record as JSON: /data/d/911.json