Information on CANDF5
Basic details
Name: IL-17RA deficiency | Acronym: CANDF5
Alt. names: Immunodeficiency 51 | IMD51 | familial candidiasis type 5 | CMC5 | Candidiasis, familial, 5
Gene: IL17RA | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 3 | First reported in: 2011
Last updated on: 2023-02-28 16:41:18 by
Description
Immunodeficiency-51 is an autosomal recessive primary immune deficiency that is usually characterized by onset of chronic mucocutaneous candidiasis in the first years of life. Most patients also show recurrent Staphylococcal skin infections, and may show increased susceptibility to chronic bacterial respiratory infections. Patient cells show a lack of cellular responses to stimulation with certain IL17 isoforms, including IL17A, IL17F, IL17A/F, and IL17E (IL25).
Management
Individuals have been described as susceptible to infections such as Candida albicans, Staphlycoccal skin infections, and bacterial respiratory infections, and awareness may allow early detection and early and aggressive treatment of infections.
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 |
|---|---|---|---|---|---|---|---|---|
101835 |
F | 212354 | 21 | Germany | PMID:34390440 [CMC07]; PMID:34390440 [CMC07] | |||
| 101920 |
M | 210089 | 10 | Turkey | Turkish | PMID:34390440 [CMC06] | ||
| 107175 |
M | 216368 | 4 | 0 | Definitive | France | Berber | PMID:26607704 [IL17RA-case]; PMID:21350122 [Fam.A:II.5(P1)] |
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Mucocutaneous candidiasis |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Esophageal candidiasis |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 3 | (unusual) Fungal infection |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 4 | Oral candidiasis |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 5 | Cutaneous abscess |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 6 | Skin infections |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 7 | Eosinophilia |
0 (0.0%) | 1 (50.0%) | 1 (50.0%) |
| 8 | (unusual) Respiratory tract infection |
0 (0.0%) | 1 (50.0%) | 1 (50.0%) |
| 9 | Increased IgE levels |
0 (0.0%) | 1 (50.0%) | 1 (50.0%) |
| 10 | Bronchiectasis |
0 (0.0%) | 1 (50.0%) | 1 (50.0%) |
| 11 | Lung disease |
0 (0.0%) | 1 (50.0%) | 1 (50.0%) |
| 12 | Pneumonia |
0 (0.0%) | 1 (50.0%) | 1 (50.0%) |
| 13 | Skin rash |
0 (0.0%) | 1 (50.0%) | 1 (50.0%) |
| 14 | Eczema |
0 (0.0%) | 1 (50.0%) | 1 (50.0%) |
| 15 | Pneumatocele |
0 (0.0%) | 1 (50.0%) | 1 (50.0%) |
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.