Information on IMD73A
Basic details
Name: Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis | Acronym: IMD73A
Alt. names:
Gene: RAC2 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2000
Last updated on: 2023-02-28 16:41:18 by
Description
Antiinfectious prophylaxis and early and aggressive treatment of infections can be beneficial (neutrophil infusions have been described in Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis) In Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia, HSCT has been described; Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia has been described as involving endocrine manifestations (eg, hypothyroidism, hyperparathyroidism), and awareness may allow early diagnosis and management. Renal transplant has been described in Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia. Refs. PMIDs: 10758162; 10961859; 21167572; 25512081; 30654050; 30723080; 31071452; 31382036; 32542921
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 | Impaired neutrophil chemotaxis |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Abnormally low T cell receptor excision circle level |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Delayed umbilical cord separation |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Impaired oxidative burst |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Leukocytosis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Macrocytic anemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Neonatal omphalitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Neutrophilia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Poor wound healing |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Rectal abscess |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Reduction of neutrophil motility |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Urachal cyst |
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.