Information on CIMAH
Basic details
Name: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | Acronym: CIMAH
Alt. names:
Gene: MTHFD1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2011
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals have been described as presenting with severe and recurrent infections, as well as other sequelae, such as renal disease, and medical management (with folate and hydroxycobalamin) has been described as beneficial; In addition to folate and hydroxycobalamin treatment, antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial; Related to hearing deificits, early recognition and treatment of hearing impairment may improve outcomes, including speech and language development. Refs. PMIDs: 23296427; 25633902; 27707659
Management
Description of management option has not been reviewed yet.
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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 | Increased circulating lactate dehydrogenase concentration |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Hypogammaglobulinemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Hyperhomocystinemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Hypersegmentation of neutrophil nuclei |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Hypoplastic hippocampus |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Infantile onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Intellectual disability, mild |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Lymphopenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Megaloblastic anemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Pancytopenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Seizures |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Severe combined immunodeficiency |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
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.