Information on CIDX
Name: Combined immunodeficiency, X-linked | Acronym: CIDX
Alt. names: X-SCID | X-linked severe combined immunodeficiency
Gene: IL2RG | MOI: X-linked recessive | Mechanism of action: Loss of Function
No. of cases in DB: 0 | First reported in: 1995
Last updated on: 2023-02-28 by
Description
Antiinfectious prophylaxis and early and aggressive treatment of infections is indicated prior to attempts at immune reconstitution; Chronic immunoglobulin therapy may be required even after treatment aimed at immune reconstitution, which is necessary for survival; BMT/HSCT has been described, as has the use of gene therapy in individuals who are not candidates for or who have failed BMT. Refs. PMIDs: 2243135; 7883965; 8462096; 9063412; 11517204; 11806989; 20301584; 21184155; 22460439
Management
Description of management option has not been reviewed yet.
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Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Combined immunodeficiency |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Infantile onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Abnormal B cell count |
0 (0.0%) | 0 (0.0%) | 1 (99.9%) |
| 4 | Abnormal T cell count |
0 (0.0%) | 0 (0.0%) | 1 (99.9%) |
| 5 | Abnormal NK cell count |
0 (0.0%) | 0 (0.0%) | 1 (99.9%) |
| 6 | Decreased IgG levels |
0 (0.0%) | 0 (0.0%) | 1 (99.9%) |
Age of onset
distribution
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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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).