Syndromic autoimmune enteropathy due to LRBA deficiency
Synonyms: Syndromic autoimmune enteropathy due to LPS responsive beige-like anchor protein
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare, genetic, primary immunodeficiency characterized by early onset of recurrent respiratory infections and variable combination of autoimmune disorders, including hemolytic anemia, thrombocytopenic purpura, lymphoproliferative disease, inflammatory bowel disease, colitis, diabetes, arthritis, and dermatitis. Failure to thrive, hepatosplenomegaly and endocrine abnormalities have also been associated. Variable immunologic findings include deficiency of CD4+ T regulatory cells, decreased B-cells, and hypogammaglobulinemia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndromic autoimmune enteropathy due to LRBA deficiency | Syndromic autoimmune enteropathy due to LPS responsive beige-like anchor protein |
| fr | Entéropathie autoimmune syndromique par déficit en LRBA | Entéropathie autoimmune syndromique par déficit en protéine MPS responsive beige-like anchor protein |
| de | Syndromale autoimmune Enteropathie durch LRBA-Mangel | LRBA-Defizienz |
| es | Enteropatía autoinmune sindrómica por deficiencia de LRBA | Enteropatía autoinmune sindrómica por deficiencia de proteína de anclaje de tipo beige sensible a LPS |
| it | Enteropatia autoimmune sindromica da deficit di LRBA | Enteropatia autoimmune sindromica correlata alla proteina ancora simil-beige rispondente a LPS |
| nl | Syndromale auto-immune enteropathie door LRBA-deficiëntie | Syndromale auto-immune enteropathie door deficiëntie van LPS-responsief beige-achtig ankerproteïne · Syndromale auto-immune enteropathie door deficiëntie van 'LPS responsive beige-like anchor protein' |
| pt | Imunodeficiência combinada por défice de LRBA | |
| pl | Złożony Niedobór odporności spowodowany niedoborem LRBA | CID spowodowany niedoborem LRBA |
| cs | Kombinovaný imunodeficit způsobený deficitem LRBA | CID způsobená deficitem LRBA |
| uk | Комбінований імунодефіцит, зумовлений дефіцитом LRBA | КІД через дефіцит LRBA |
| zh | LRBA缺陷相关联合免疫缺陷病 | LRBA缺乏导致的CID |
| tr | LRBA eksikliğine bağlı kombine immün yetmezlik | LRBA eksikliğine bağlı CID |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614700 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.21 | NTBT | index | validated |
| MONDO | 0013863 | E | validated | |
| UMLS | C3553512 | E | validated | |
| GARD | 13565 | 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 (5):
- ORPHA:183643Genetic polyendocrinopathy
rare genetic diseases - ORPHA:480549Non-severe combined immunodeficiency
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:101956Polyendocrinopathy
rare endocrine diseases - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:522043Syndromic autoimmune enteropathy
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LRBA | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1742 | ENSG00000198589 | 606453 | 4q31.3 | LPS responsive beige-like anchor protein | 22608502[PMID]_25468195[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 23 cases | Worldwide | Case(s) | Validated | 22721650[PMID]_22981790[PMID]_25468195[PMID]_26206937[PMID]_22608502[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22721650[PMID]_22981790[PMID]_25468195[PMID]_26206937[PMID]_22608502[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/445018
- This record as JSON: /data/d/445018.json