Information on CID4
Name: Combined immunodeficiency 4 | Acronym: CID4
Alt. names: Immunodeficiency 119 | ICOSL deficiency | ICOSLG deficiency
Gene: ICOSLG | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2018
Last updated on: 2024-06-04 09:49:18 by Andrés Caballero-Oteyza
Description
It is characterized by recurrent bacterial and viral infections with warts in childhood. These patients are susceptible to chronic DNA-based viral infections, including HPV and HSV. Immunophenotyping shows neutropenia, hypogammaglobulinemia, and low numbers of both T and B cells (PMID:30498080,34694545).
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Angular cheilitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Childhood onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Combined immunodeficiency |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Hypogammaglobulinemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Decreased proportion of switched memory B cells |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Genital warts |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Lymphopenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Neutropenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Pneumonia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Recurrent bronchitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Herpes labialis, recurrent |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Recurrent otitis media |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Recurrent sinusitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Antineutrophil antibodies |
0 (0.0%) | 0 (0.0%) | 1 (99.9%) |
| 15 | Myelodysplasia |
0 (0.0%) | 0 (0.0%) | 1 (99.9%) |
| 16 | Myelokathexis |
0 (0.0%) | 0 (0.0%) | 1 (99.9%) |
Age of onset
distribution
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).