Information on SCID-X1
Basic details
Name: X-linked severe combined immunodeficiency | Acronym: SCID-X1
Alt. names: Severe combined immunodeficiency due to gamma chain deficiency
Gene: IL2RG | MOI: X-linked recessive | Mechanism of action:
No. of cases in DB: 1 | First reported in: 1993
Last updated on: 2023-02-28 16:41:18 by
Description
SCID-X1 manifests during the first months of life with severe and often life threatening viral, bacterial or fungal infections (e.g. Pneumocystis jiroveci pneumonitis, disseminated BCG infection if previously vaccinated), and failure to thrive. Chronic diarrhea is a frequent finding. Some patients may have skin rashes and abnormalities of liver function. Materno-fetal transfusion-associated graft versus host disease is also associated with the disease. Immunological findings are lymphopenia with the absence of T and NK cells, hypogammaglobulinemia, and normal or increased B cell count.
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
1 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
106760 |
M | 216123 |
0 | 0 | Possible | Israel | Israeli | PMID:32921793 [Fam.A:II.1(P1-A)] |
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 | Decreased IgA levels |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Decreased lymphocyte proliferation in response to mitogen: anti-CD3 |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Hematopoietic stem cell transplantation |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Lymphopenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Decreased lymphocyte proliferation in response to mitogen: PHA |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Decreased IgM levels |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Reduced T cell count |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Leukopenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Hypogammaglobulinemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Decreased IgG levels |
0 (0.0%) | 1 (99.9%) | 0 (0.0%) |
| 11 | Reduced NK cell number |
0 (0.0%) | 1 (99.9%) | 0 (0.0%) |
| 12 | Reduced number of B cells |
0 (0.0%) | 1 (99.9%) | 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 |
|---|---|
| Hematopoietic stem cell transplantation | Excelent/Remision (1) for unspecified |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.