Information on HIGM3
Basic details
Name: Hyper-IgM syndrome type 3 | Acronym: HIGM3
Alt. names: CD40 deficiency | Immunodeficiency with hyper-IgM, type 3
Gene: CD40 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2001
Last updated on: 2023-02-28 16:41:18 by
Description
A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells.
Management
Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial. BMT has been reported.
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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 |
|---|
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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.