Information on CANDF5

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 by

OMIM: 605658

Orphanet: -

MONDO: -

DOID: -

ClinGen:

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.

Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank Clinical phenotype Present Absent Unreported
1 Mucocutaneous candidiasisarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
2 Dermatitisarrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
3 Chronic mucocutaneous candidiasisarrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
4 Frequent cutaneous fungal infectionsarrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
5 Abscessarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
6 Opportunistic fungal infectionarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
7 Candidiasisarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
8 (unusual) Bacterial infectionarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
9 Recurrent impetigoarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
10 Esophageal candidiasisarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
11 Unusual infectionarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
12 (unusual) Fungal infectionarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
13 Oral candidiasisarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
14 Cutaneous abscessarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
15 Eczemaarrow icon 1 (33.3%) 1 (33.3%) 1 (33.3%)
16 Frequent skin infections arrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
17 Abnormal bronchus morphologyarrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
18 Decreased IgA levelsarrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
19 Decreased lymphocyte proliferation in response to mitogensarrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
20 Abnormal blood vessel morphologyarrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
21 Eosinophiliaarrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
22 (unusual) Respiratory tract infectionarrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
23 Abnormal cerebral vascular morphologyarrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
24 Abnormal circulating IgA levelarrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
25 Abnormal circulating IgE levelarrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
26 Abnormal circulating IgM levelarrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
27 Feverarrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
28 Vasculitisarrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
29 Decreased IgM levelsarrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
30 Recurrent feversarrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
31 Autoimmunityarrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
32 Leukocytosisarrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
33 Increased IgE levelsarrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
34 Abnormal lymphoproliferationarrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
35 Bronchiectasisarrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
36 Lung diseasearrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
37 Decreased body weightarrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
38 Hypergammaglobulinaemiaarrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
39 Failure to thrivearrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
40 Strokearrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
41 Hypogammaglobulinemiaarrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
42 Abnormal eosinophil countarrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
43 Pneumoniaarrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
44 Autoimmune antibody positivityarrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
45 Skin rasharrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
46 obstructive lung diseasearrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
47 Pulmonary cystarrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
48 Pneumatocelearrow icon 0 (0.0%) 1 (33.3%) 2 (66.7%)
49 Increased inflammatory responsearrow icon 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

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
101835arrow icon F 212354 21 Germany PMID:34390440 [CMC07]; PMID:34390440 [CMC07]
101920arrow icon M 210089 10 Turkey Turkish PMID:34390440 [CMC06]
107175arrow icon 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).