Information on LAD1
Basic details
Name: Leukocyte adhesion deficiency, type I | Acronym: LAD1
Alt. names: LAD-1
Gene: ITGB2 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1990
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals frequently first present with umbilical cord stump infection, and are prone to recurrent and severe bacterial infections, such that antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial; BMT has been described as effective. Refs. PMIDs: 52003; 86829; 7310581; 7259263; 6718115; 6096477; 3703627; 2877234; 3510003; 2880869; 3234429; 3279017; 1972597; 7902162; 17244687; 19864007; 20351460; 20549317
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 | Leukocytosis |
32 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Delayed umbilical cord separation |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Skin ulcer |
5 (26.3%) | 0 (0.0%) | 14 (73.7%) |
| 4 | Chronic diarrhea |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Mucocutaneous candidiasis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Elevated C-reactive protein |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Gingivitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Hyperfibrinogenemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Neonatal onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Osteomyelitis |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 11 | repeated bacterial infections |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Recurrent infections |
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.