Information on IMD66b
Basic details
Name: Immunodeficiency 66 | Acronym: IMD66b
Alt. names: neutropenia due to MKL1 deficiency
Gene: MRTFA | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 0 | First reported in: 2015
Last updated on: 2024-06-15 15:42:51 by Andrés Caballero-Oteyza
Description
Condition initially described in one single patient who suffered from increased susceptibility to severe bacterial infections since infancy. Her neutrophils were primarily affected, although there may be defects in dendritic cells and T and B cells. Laboratory studies showed normal levels of myeloid and lymphoid cells, but with mild thrombocytopenia. Neutrophils and dendritic cells showed defective cell migration and chemotaxis resulting from defects in cytoskeletal actin dynamics (PMID:26224645).
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 | Defective T cell proliferation |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Meningitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Otitis externa |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Pustule |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Skin infections |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Septicaemia |
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.