Information on APDS2
Name: Activated p110-d syndrome 2 | Acronym: APDS2
Alt. names: Immunodeficiency 36 | IMD36
Gene: PIK3R1 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 3 | First reported in: 2014
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals may demonstrate susceptibility to severe infections (in addition to autoimmune-type sequelae in some conditions) and prophylactic measures (eg, including IVIG administration), as well as early and aggressive treatment of infections, has been reported as being beneficial. Refs. PMIDs: 7705412; 22351933; 23810378; 23810382; 25133428
Management
Description of management option has not been reviewed yet.
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 | Abnormal lymphoproliferation |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Otitis media |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 3 | Lymphadenopathy |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 4 | (unusual) Respiratory tract infection |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 5 | Splenomegaly |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 6 | (unusual) Viral infection |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 7 | Decreased IgA levels |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 8 | Sinusitis |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 9 | Recurrent upper respiratory tract infection |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 10 | Hepatopathy |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 11 | Hepatosplenomegaly |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 12 | Increased IgM levels |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 13 | (unusual) Bacterial infection |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 14 | Bronchiectasis |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 15 | Lung disease |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 16 | Enteropathy |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 17 | Increased proportion of transitional B cells |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 18 | Conjunctivitis |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 19 | (unusual) Epstein-Barr virus infection |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 20 | Hypogammaglobulinemia |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 21 | Rotavirus infection |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 22 | BCGosis |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 23 | Decreased IgG levels |
0 (0.0%) | 1 (33.3%) | 2 (66.7%) |
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 |
|---|---|
| Intravenous immunoglobulin therapy | Unspecified (1) for unspecified |
| Antibiotics | Unspecified (1) for unspecified |
| Subcutaneous Immunoglobulin infusions | Unspecified (1) for unspecified |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
3 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
| 102226 |
F | 214921 | 14 | Russia | Russian | PMID:35486341 [P094] | ||
| 106352 |
M | 215998 |
16 | 1 | Definitive | United Kingdom | PMID:34922003 [Fam.B:II.1(B1)] | |
| 106636 |
F | 216095 | 11 | 2 | Definitive | Iran | Iranian | PMID:31117086 [P34] |
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).