Information on HIGM5
Basic details
Name: Hyper-IgM syndrome type 5 | Acronym: HIGM5
Alt. names: Immunodeficiency with hyper-IgM, type 5
Gene: UNG | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2003
Last updated on: 2023-02-28 16:41:18 by
Description
A hyperimmunoglobulin syndrome characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process caused by homozygous or compound heterozygous mutation in the UNG gene. Due to low/absent serum IgG, IgA, and IgE, Individuals are susceptible to recurrent/severe bacterial infections.
Management
Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial. Refs. PMIDs: 12958596; 15358621
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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).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Decreased IgA levels |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Decreased IgG levels |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Impaired Ig class switch recombination |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Increased IgM levels |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Lymphadenopathy |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | repeated bacterial infections |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Childhood onset |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Epididymitis |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 9 | Recurrent upper and lower respiratory tract infections |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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