ORPHA:280142
Combined immunodeficiency due to LCK deficiency
Synonyms: CID due to LCK deficiency · CID due to lymphocyte-specific protein tyrosine kinase deficiency · Combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, combined T- and B-cell immunodeficiency characterized by failure to thrive, severe diarrhea, opportunistic infections, and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency due to LCK deficiency | CID due to LCK deficiency · CID due to lymphocyte-specific protein tyrosine kinase deficiency · Combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency |
| fr | Déficit immunitaire combiné par déficit en LCK | CID par déficit en LCK · DIC par déficit en LCK · Déficit immunitaire combiné sévère par déficit en tyrosine kinase spécifique des lymphocytes · Immunodéficience combinée par déficit en LCK |
| de | Immundefekt, kombinierter, durch LCK-Mangel | CID durch LCK-Defizienz · CID durch Leukozyten-spezifischen Protein-Tyrosin-Kinase-Mangel |
| es | Inmunodeficiencia combinada por deficiencia de LCK | CID por deficiencia de LCK · IDC por deficiencia de LCK · CID por deficiencia de la proteína tirosina quinasa específica de linfocitos · IDC por deficiencia de la proteína tirosina quinasa específica de linfocitos · Inmunodeficiencia combinada por deficiencia de la proteína tirosina quinasa específica de linfocitos |
| it | Immunodeficienza combinata grave da deficit di LCK | Immunodeficienza combinata grave da deficit della tirosina chinasi specifica dei linfociti · CID da deficit di LCK · CID da deficit della tirosina chinasi specifica dei linfociti |
| nl | Gecombineerde immuundeficiëntie door LCK-deficiëntie | CID door deficiëntie van lymfocyt-specifiek tyrosine-proteïnekinase · Gecombineerde immuundeficiëntie door deficiëntie van lymfocyt-specifiek tyrosine-proteïnekinase · CID door LCK-deficiëntie |
| pt | Imunodeficiência combinada grave por deficiência de LCK | Imunodeficiência combinada grave por deficiência de proteína tirosina quinase específica de linfócitos · SCID por deficiência de LCK · SCID por deficiência de proteína tirosina quinase específica dos linfócitos |
| pl | Ciężki złożony Niedobór odporności z powodu niedoboru LCK | Ciężki złożony Niedobór odporności z powodu niedoboru specyficznej dla limfocytów kinazy tyrozynowej · SCID z powodu niedoboru LCK · SCID z powodu niedoboru specyficznej dla limfocytów kinazy tyrozynowej |
| cs | Těžký kombinovaný imunodeficit způsobený deficitem LCK | SCID způsobený deficitem LCK · SCID způsobený deficitem specifické protein tyrozin-kinázy lymfocytů · Těžký kombinovaný imunodeficit způsobený deficitem specifické protein tyrozin-kinázy lymfocytů |
| uk | Тяжкий комбінований імунодефіцит через дефіцит LCK | ТКІД через дефіцит LCK · ТКІД внаслідок дефіциту лімфоцитарної тирозинкінази, специфічної для лімфоцитів · Тяжкий комбінований імунодефіцит, зумовлений дефіцитом лімфоцитарної протеїн-тирозинкінази |
| zh | LCK基因缺陷所致重度联合免疫缺陷 | 淋巴细胞特异性蛋白酪氨酸激酶缺乏所致的严重联合免疫缺陷 |
| tr | LCK eksikliğine bağlı ağır kombine immün yetmezlik | LCK eksikliğine bağlı SCID · Lenfosite özgü protein tirozin kinaz eksikliğine bağlı SCID · Lenfosite özgü protein tirozin kinaz eksikliğine bağlı ağır kombine immün yetmezlik |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615758 | E | validated | |
| ICD-10 | D81.1 | NTBT | attributed | validated |
| ICD-11 | 4A01.10 | NTBT | index | validated |
| MONDO | 0014334 | E | validated | |
| UMLS | C5191006 | 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:718053Combined immunodeficiency with low CD4 and normal CD8
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:94075Severe immune-mediated enteropathy
rare gastroenterological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LCK | Disease-causing germline mutation(s) in | Assessed | HGNC:6524 | ENSG00000182866 | 153390 | 1p35.2 | LCK proto-oncogene, Src family tyrosine kinase |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 9664084[PMID]_22985903[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280142
- This record as JSON: /data/d/280142.json