Information on CCHIDG1
Name: Combined cellular and humoral immune defects with granulomas 1 | Acronym: CCHIDG1
Alt. names:
Gene: RAG1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 1 | First reported in: 2008
Last updated on: 2023-02-28 by
Description
Antiinfectious prophylaxis (though special consideration is necessary related to the use of live vaccines) and early and aggressive treatment of infections may be beneficial; HSCT has been reported. Refs. PMIDs: 9630231; 10226883; 11313270; 16276422; 18463379; 20956421; 20489056; 21131235; 21624848; 21184155; 21732012; 21625022; 21771083; 22424479
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Granuloma |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | (unusual) Respiratory tract infection |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Autoimmunity |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Autoimmune hemolytic anemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Autoimmune cytopenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Lung disease |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Enteropathy |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Diarrhea |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Pneumonia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Skin rash |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
Age of onset
distribution
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|---|
| Immunosuppressive agents | Mild (1) for Autoimmune hemolytic anemia |
| Corticosteroids [Immunosuppressive agents] [Anti-Inflammatory agents] |
Mild (1) for Autoimmune hemolytic anemia |
| Methylprednisolone [Corticosteroids] |
Mild (1) for Autoimmune hemolytic anemia |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
1 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
| 104883 |
F | 215610 | 4 | 1 | Egypt | Egyptian | PMID:30307608 [29] |
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).