Information on SCID2
Basic details
Name: Severe combined immunodeficiency due to IL7R deficiency | Acronym: SCID2
Alt. names: IL7R-alpha deficiency | IMD104 | Immunodeficiency 104, severe combined
Gene: IL7R | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 0 | First reported in: 1998
Last updated on: 2023-06-19 16:41:18 by Andrés Caballero-Oteyza
Description
It is characterized by the onset of recurrent infections in early infancy. Manifestations may include oral thrush, fever, and failure to thrive. Some patients have lymphadenopathy and hepatosplenomegaly, whereas others have absence of lymph nodes and lack a thymic shadow. Laboratory studies show decreased or absent numbers of nonfunctional T cells, normal or increased levels of B cells, variable hypogammaglobulinemia, and normal NK cells. The disorder is caused by a defect in IL7 (146660) signaling due to a mutant IL7 receptor. Hematopoietic stem cell transplantation may be curative (Roifman et al., 2000 and Giliani et al., 2005).[source:OMIM]
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 | Reduced T cell count |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Mucocutaneous candidiasis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Gastroesophageal reflux |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Infantile onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Recurrent otitis media |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
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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.