Information on CCHIDG1
Basic details
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 16:41:18 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.
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).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | 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%) |
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 | Mild (1) for Autoimmune hemolytic anemia |
| Methylprednisolone | Mild (1) for Autoimmune hemolytic anemia |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.