ORPHA:572
Immunodeficiency by defective expression of MHC class II
Synonyms: Bare lymphocyte syndrome type 2 · MHC class II deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare autosomal recessive primary immunodeficiency characterized by absence of HLA class II molecules on the surface of immune cells, leading to severely impaired cellular and humoral immune response to foreign antigens, severe CD4+ T-cell lymphopenia, and hypogammaglobulinemia. The disease clinically manifests with early onset of severe and recurrent infections mainly of the respiratory and gastrointestinal tract, protracted diarrhea with failure to thrive, and autoimmune disease, and is frequently fatal in childhood.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Immunodeficiency by defective expression of MHC class II | Bare lymphocyte syndrome type 2 · MHC class II deficiency |
| fr | Déficit immunitaire par déficit d'expression des molécules CMH de classe II | Déficit en CMH de classe II · Immunodéficience par déficit d'expression des molécules CMH de classe II · Syndrome des lymphocytes dénudés type 2 |
| de | Immundefekt durch MHC Klasse II-Expressionsdefekt | Haupthistokompatibilitäts-Komplex-Klasse-II-Expressionsdefekt · MHC Klasse II-Defizienz · Nackte-Lymphozyten-Syndrom Typ II |
| es | Inmunodeficiencia por déficit de expresión del CMH de clase II | Deficiencia de CMH de clase II · Síndrome del linfocito desnudo tipo 2 |
| it | Immunodeficienza da deficit di espressione del complesso maggiore di istocompatibilità di classe II | Immunodeficienza combinata grave da deficit di espressione delle molecole HLA di classe 2 · Sindrome dei linfociti nudi, tipo 2 |
| nl | Immuundeficiëntie door verstoorde expressie van MHC klasse II | MHC klasse II-deficiëntie · Naakt lymfocytsyndroom type 2 |
| pt | Imunodeficiência por expressão deficiente de HLA classe 2 | Deficiência de MHC classe II · Síndrome linfócitos desnudos tipo 2 |
| pl | Niedobór odporności z powodu wadliwej ekspresji HLA klasy 2 | Ciężki złożony Niedobór odporności HLA klasy 2 · Zespół nagich limfocytów typu 2 |
| cs | Imunodeficience způsobená poruchou exprese HLA 2. třídy | Syndrom nahých lymfocytů, typ 2 · HLA 2. třídy-negativní těžký kombinovaný imunodeficit |
| uk | Імунодефіцит, зумовлений дефектом експресії MHC класу II | Синдром голих лімфоцитів, тип 2 · Дефіцит MHC класу II |
| zh | MHC II表达缺陷所致免疫缺陷 | 裸淋巴细胞综合征2型 |
| tr | MHC sınıf II'nin defektif ifadesi ile immün yetmezlik | MHC sınıf II eksikliği · Çıplak lenfosit sendromu tip 2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 209920 | E | validated | |
| ICD-10 | D81.7 | E | specific | validated |
| ICD-11 | 4A01.12 | E | specific | validated |
| MONDO | 0008855 | E | validated | |
| MeSH | C537079 | E | validated | |
| UMLS | C2931418 | E | validated | |
| GARD | 824 | 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
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CIITA | Disease-causing germline mutation(s) in | Assessed | HGNC:7067 | ENSG00000179583 | 600005 | 16p13.13 | class II major histocompatibility complex transactivator | |
| RFX5 | Disease-causing germline mutation(s) in | Assessed | HGNC:9986 | ENSG00000143390 | 601863 | 1q21.3 | regulatory factor X5 | |
| RFXANK | Disease-causing germline mutation(s) in | Assessed | HGNC:9987 | ENSG00000064490 | 603200 | 19p13.11 | regulatory factor X associated ankyrin containing protein | |
| RFXAP | Disease-causing germline mutation(s) in | Assessed | HGNC:9988 | ENSG00000133111 | 601861 | 13q13.3 | regulatory factor X associated protein |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 179 cases | Worldwide | Case(s) | Validated | 27510876[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
38 annotations · validated 2019-04-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0031390 | Reduced MHC II surface expression | |
| Very frequent (99-80%) | ||
| HP:0005354 | Lack of T cell function | |
| HP:0004798 | Recurrent infection of the gastrointestinal tract | |
| HP:0002205 | Recurrent respiratory infections | |
| Frequent (79-30%) | ||
| HP:0005368 | Abnormality of humoral immunity | |
| HP:0200124 | Chronic hepatitis due to cryptosporidium infection | |
| HP:0002728 | Chronic mucocutaneous candidiasis | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0025347 | Decreased circulating beta-2-microglobulin level | |
| HP:0032218 | Decreased proportion of CD4-positive T cells | |
| HP:0002014 | Diarrhea | |
| HP:0001508 | Failure to thrive | |
| HP:0004385 | Protracted diarrhea | |
| HP:0002726 | Recurrent Staphylococcus aureus infections | |
| HP:0002718 | Recurrent bacterial infections | |
| HP:0005401 | Recurrent candida infections | |
| HP:0002841 | Recurrent fungal infections | |
| HP:0005353 | Recurrent herpes | |
| HP:0005386 | Recurrent protozoan infections | |
| HP:0004429 | Recurrent viral infections | |
| HP:0012384 | Rhinitis | |
| HP:0030991 | Sclerosing cholangitis | |
| HP:0000246 | Sinusitis | |
| Occasional (29-5%) | ||
| HP:0031394 | Abnormal CD4:CD8 ratio | |
| HP:0000371 | Acute otitis media | |
| HP:0001890 | Autoimmune hemolytic anemia | |
| HP:0001973 | Autoimmune thrombocytopenia | |
| HP:0002960 | Autoimmunity | |
| HP:0031381 | Decreased lymphocyte proliferation in response to mitogen | |
| HP:0005403 | Decreased total T cell count | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | |
| HP:0001876 | Pancytopenia | |
| HP:0003139 | Panhypogammaglobulinemia | |
| HP:0000988 | Skin rash | |
| Very rare (<4-1%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001260 | Dysarthria | |
| HP:0002066 | Gait ataxia | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 25001848[PMID]_28676232[PMID]_26634365[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/572
- This record as JSON: /data/d/572.json