NIK deficiency
Synonyms: Primary immunodeficiency with multifaceted aberrant lymphoid immunity
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, primary combined T and B cell immunodeficiency characterized by recurrent, severe viral and bacterial infections. Immunologic findings include decreased immunoglobulin levels, decreased numbers of B and NK cells, reduced relative CD19+ B cells in peripheral blood, impaired memory responses to viral infections and defective antigen-specific T-cell proliferation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | NIK deficiency | Primary immunodeficiency with multifaceted aberrant lymphoid immunity |
| fr | Déficit en NIK | |
| de | NIK-Mangel | NIK-Defekt · NIK-Defizienz · Primärer Immundefekt mit vielfältiger Störung der lymphoiden Immunität |
| es | Deficiencia de NIK | Inmunodeficiencia primaria con inmunidad linfocitaria aberrante multifacética |
| it | Deficit di NIK | Immunodeficienza primitiva con immunità linfocitaria aberrante multiforme |
| nl | NIK-deficiëntie | Primaire immuundeficiëntie met verscheiden afwijkende lymfoïde immuniteit |
| pt | Défice de NIK | |
| pl | Niedobór NIK | = en |
| cs | Deficit NIK | Primární imunodeficience s multifacetovou odchylkou lymfatické imunity |
| uk | Дефіцит NIK | Первинний імунодефіцит з багатогранним аберантним лімфоїдним імунітетом |
| zh | NIK缺乏症 | 合并多种淋巴免疫异常的原发性免疫缺陷病 |
| tr | NIK eksikliği | Multi anormal lenfoid bağışıklığı ile seyreden primer immün yetmezlik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620449 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | attributed | validated |
| MONDO | 0018642 | E | validated | |
| UMLS | C5680065 | 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 (1):
- ORPHA:695164Combined immunodeficiency with low B cells and hypogammaglobulinemia
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAP3K14 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6853 | ENSG00000006062 | 604655 | 17q21.31 | mitogen-activated protein kinase kinase kinase 14 | 25406581[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 25406581[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25406581[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/447731
- This record as JSON: /data/d/447731.json