Information on CHS
Basic details
Name: Chediak-Higashi syndrome | Acronym: CHS
Alt. names:
Gene: LYST | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1996
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals can have infection susceptibility, and prophylaxis and early and aggressive treatment of infections can be beneficial; Surveillance for hematologic complications and malignancy is warranted; For the accelerated phase, chemoimmunotherapy then transition to continuation therapy can be beneficial; For bleeding, platelet transfusions and DDAVP may be beneficial to prevent and/or treat episodes; BMT/HSCT has been described. Refs. PMIDs: 13584476; 5908967; 5156632; 5064229; 711501; 2697195; 2070553; 2058369; 8030398; 8701696; 9215680; 10422800; 10527680; 11857544; 15790783; 20503323; 20301751; 21488161; 23521865; 24521565
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 | Infantile onset |
14 (73.7%) | 0 (0.0%) | 5 (26.3%) |
| 2 | Anemia |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Giant neutrophil granules |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Hypopigmentation of hair |
8 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Ocular albinism |
8 (88.9%) | 0 (0.0%) | 1 (11.1%) |
| 6 | Recurrent infections |
6 (85.7%) | 0 (0.0%) | 1 (14.3%) |
| 7 | Silver-gray hair |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Young adult onset |
4 (44.4%) | 0 (0.0%) | 5 (55.6%) |
| 9 | Impetigo |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 10 | Hepatomegaly |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 11 | Reduced visual acuity |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 12 | Splenomegaly |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 13 | Skin hypopigmentation |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Neonatal onset |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
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.