Information on SCID15
Name: Severe combined immunodeficiency due to adenosine deaminase deficiency | Acronym: SCID15
Alt. names: DADA | Adenosine deaminase 1 deficiency | deficiency of adenosine deaminase
Gene: ADA | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 1 | First reported in: 1986
Last updated on: 2023-02-28 16:41:18 by
Description
An autosomal recessive deficiency of the purine salvage enzyme adenosine deaminase (ADA) which results in Severe Combined Immunodeficiency Disease (SCID). ADA is necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP. The most common form of SCID, accounting for about 50% of autosomal recessive cases. The first disease for which gene therapy was applied.
Management
Enzyme treatment (with PEG-ADA) is beneficial; Antiinfectious prophylaxis and early and aggressive treatment of infections are indicated; BMT has been described in many individuals; Surveillance for certain neoplasms may be beneficial. Variants may also contribute to Partial ADA deficiency; Gene therapy may be available, though largely on an experimental basis.
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Decreased IgA levels |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Sinusitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Decreased IgG levels |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Recurrent lower respiratory tract infections |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Reduced IgG2 levels |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Recurrent upper respiratory tract infection |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | (unusual) Respiratory tract infection |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Lymphopenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Decreased IgM levels |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Interstitial lung disease |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Bronchiectasis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Warts |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Bacterial meningitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Lung disease |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Enteropathy |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Atopy |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 17 | Allergy |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 18 | Diarrhea |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 19 | Varicella zoster virus infection |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 20 | Hypogammaglobulinemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 21 | (unusual) Viral infection |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 22 | Bronchitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 23 | Asthma |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 24 | Reduced ab-response to tetanus vaccine |
0 (0.0%) | 1 (99.9%) | 0 (0.0%) |
| 25 | negative ab-response to diphtheria vaccine |
0 (0.0%) | 1 (99.9%) | 0 (0.0%) |
Age of onset
distribution
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
1 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
| 101635 |
F | 211154 | 50 | 50 | German | PMID:34975878 [Fam.F221:P221] |
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).