Immunodeficiency by defective expression of MHC class I
Synonyms: Bare lymphocyte syndrome type 1 · MHC class I deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare autosomal recessive primary immunodeficiency characterized by severe reduction in the cell surface expression of HLA class I molecules, typically resulting in childhood-onset of chronic bacterial infections of the respiratory tract evolving to widespread bronchiectasis and respiratory insufficiency. Sterile necrotizing granulomatous skin lesions mainly involving the extremities and the mid-face may be observed in some patients. Severe viral infections do not occur as part of the condition. Atypical variants without respiratory or cutaneous manifestations, as well as asymptomatic individuals have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Immunodeficiency by defective expression of MHC class I | Bare lymphocyte syndrome type 1 · MHC class I deficiency |
| fr | Déficit immunitaire par déficit d'expression des molécules CMH de classe I | Déficit en CMH de classe I · Immunodéficience par déficit d'expression des molécules CMH de classe I · Syndrome des lymphocytes dénudés type I |
| de | Immundefekt durch MHC Klasse I-Expressionsdefekt | BLS Typ 1 · MHC Klasse I-Defizienz · Nackte-Lymphozyten-Syndrom Typ I |
| es | Inmunodeficiencia por expresión deficiente del CMH de clase I | Deficiencia de CMH de clase I · Síndrome del linfocito desnudo tipo 1 |
| it | Immunodeficienza da deficit di espressione del complesso maggiore di istocompatibilità di classe I | Sindrome dei linfociti nudi, tipo 1 |
| nl | Immuundeficiëntie door verstoorde expressie van MHC klasse I | MHC klasse I-deficiëntie · Naakt lymfocytsyndroom type 1 |
| pt | Imunodeficiência por défice da expressão de MHC classe 1 | Deficiência de MHC classe I |
| pl | Niedobór odporności z powodu wadliwej ekspresji HLA klasy 1 | Bare lymphocyte syndrome type 1 |
| cs | Imunodeficience s poruchou exprese HLA 1.třídy | Syndrom nahých lymfocytů, typ 1 |
| uk | Імунодефіцит, зумовлений дефектною експресією MHC класу I | Синдром голих лімфоцитів, тип 1 · Дефіцит MHC класу I |
| zh | MHC-I类分子表达缺陷所致免疫缺陷 | 裸淋巴细胞综合征1型 |
| tr | MHC sınıf I'in defektine bağlı immün yetmezlik | MHC sınıf I eksikliği · Çıplak lenfosit sendromu tip 1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 241600 | BTNT | validated | |
| OMIM | 604571 | E | validated | |
| ICD-10 | D81.6 | E | specific | validated |
| ICD-11 | 4A01.11 | E | specific | validated |
| MONDO | 0011476 | E | validated | |
| MeSH | C565759 | E | validated | |
| UMLS | C1858266 | E | validated | |
| GARD | 8427 | 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:718053Combined immunodeficiency with low CD4 and normal CD8
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:718072Combined immunodeficiency with low CD8 and normal CD4
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| B2M | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:914 | ENSG00000166710 | 109700 | 15q21.1 | beta-2-microglobulin | 25702838[PMID] |
| TAP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:43 | ENSG00000168394 | 170260 | 6p21.32 | transporter 1, ATP binding cassette subfamily B member | 10074494[PMID] |
| TAP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:44 | ENSG00000204267 | 170261 | 6p21.32 | transporter 2, ATP binding cassette subfamily B member | 10560675[PMID] |
| TAPBP | Disease-causing germline mutation(s) in | Assessed | HGNC:11566 | ENSG00000231925 | 601962 | 6p21.32 | TAP binding protein | 12149238[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | 25001848[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25001848[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/34592
- This record as JSON: /data/d/34592.json