ORPHA:277
T-B-NK- severe combined immunodeficiency due to adenosine deaminase deficiency
Synonyms: ADA deficiency · T-B-NK- SCID due to adenosine deaminase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | T-B-NK- severe combined immunodeficiency due to adenosine deaminase deficiency | ADA deficiency · T-B-NK- SCID due to adenosine deaminase deficiency |
| fr | Déficit immunitaire combiné sévère T-B-NK- par déficit en adénosine désaminase | DICS T-B-NK- par déficit en adénosine désaminase · Déficit en ADA · ICDS T-B-NK- par déficit en adénosine désaminase · Immunodéficience combinée sévère T-B-NK- par déficit en adénosine désaminase · SCID T-B-NK- par déficit en adénosine désaminase |
| de | Immundefekt, kombinierter schwerer, T-B-NK-, durch Adenosin-Desaminase-Mangel | ADA-Mangel · T-B-NK- SCID durch Adenosin-Desaminase-Defizienz |
| es | Inmunodeficiencia combinada grave T-B-NK- por deficiencia de adenosina desaminasa | Deficiencia ADA · IDCG T-B-NK- por deficiencia de adenosina desaminasa · SCID T-B-NK- por deficiencia de adenosina desaminasa |
| it | Immunodeficienza combinata grave T-B-NK- da deficit di adenosina deaminasi | Deficit di ADA · SCID T-B-NK- da deficit di adenosina deaminasi |
| nl | T-B-NK- ernstige gecombineerde immuundeficiëntie door deficiëntie van adenosinedeaminase | ADA-deficiëntie · T-B-NK- SCID door deficiëntie van adenosinedeaminase |
| pt | Imunodeficiência combinada grave por deficiência de adenosina desaminase | Deficiência de ADA · Deficiência de adenosina desaminase |
| pl | Ciężki złożony Niedobór odporności z powodu niedoboru deaminazy adenozyny | Niedobór ADA · SCID z powodu niedoboru deaminazy adenozyny |
| cs | Těžká kombinovaná imunodeficience způsobená deficitem adenozin deaminázy | Deficit ADA · SCID způsobená deficitem adenozin deaminázy |
| uk | Тяжкий комбінований імунодефіцит внаслідок дефіциту аденозиндезамінази | Дефіцит АДА · SCID через дефіцит аденозиндезамінази |
| zh | 腺苷脱氨酶缺乏所致重症联合免疫缺陷病 | 腺苷脱氨酶缺乏所致重症联合免疫缺陷病 |
| tr | Adenozin deaminaz eksikliğine bağlı ağır kombine immün yetmezlik | ADA eksikliği · Adenozin deaminaz eksikliğine bağlı SCID |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 102700 | E | validated | |
| ICD-10 | D81.3 | E | specific | validated |
| ICD-11 | 4A01.10 | NTBT | index | validated |
| MONDO | 0007064 | E | validated | |
| MeSH | C531816 | E | validated | |
| UMLS | C0392607 | E | validated | |
| GARD | 5748 | E | validated | |
| MedDRA | 10066367 | 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:79191Disorder of purine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:720294T-B-NK- severe combined immunodeficiency
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADA | Disease-causing germline mutation(s) in | Assessed | HGNC:186 | ENSG00000196839 | 608958 | 20q13.12 | adenosine deaminase |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 / 100 000 | Europe | Value and class | Validated | 20301656[PMID]_ ORPHANET_[EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | Europe | Value and class | Validated | European Medicines Agency[OTHER] |
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
20 annotations · validated 2017-11-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0005368 | Abnormality of humoral immunity | |
| HP:0002849 | Absence of lymph node germinal center | |
| HP:0030813 | Absent tonsils | |
| HP:0012393 | Allergy | |
| HP:0025379 | Anti-thyroid peroxidase antibody positivity | |
| HP:0002960 | Autoimmunity | |
| HP:0010976 | Decreased total B cell count | |
| HP:0005403 | Decreased total T cell count | |
| HP:0002014 | Diarrhea | |
| HP:0001508 | Failure to thrive | |
| HP:0003212 | Increased circulating IgE concentration | |
| HP:0011123 | Inflammatory abnormality of the skin | |
| HP:0005354 | Lack of T cell function | |
| HP:0001888 | Lymphopenia | |
| HP:0010444 | Pulmonary insufficiency | |
| HP:0005390 | Recurrent opportunistic infections | |
| HP:0000403 | Recurrent otitis media | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0000246 | Sinusitis | |
Annotation source: 20301656[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/277
- This record as JSON: /data/d/277.json