T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
General Information (adopted from Orphanet):
Synonyms, Signs: |
SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE T-B+ SCID due to IL-7Ralpha deficiency |
Number of Symptoms | 17 |
OrphanetNr: | 169154 |
OMIM Id: |
608971
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ICD-10: |
D81.2 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal recessive inheritance [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: |
T-B+ severe combined immunodeficiency
-Rare genetic disease -Rare immune disease |
Symptom Information:
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(HPO:0000388) | Otitis media | 28 / 7739 | ||||
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(HPO:0001744) | Splenomegaly | 337 / 7739 | ||||
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(HPO:0002240) | Hepatomegaly | 467 / 7739 | ||||
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(HPO:0002014) | Diarrhea | 225 / 7739 | ||||
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(HPO:0000964) | Eczema | 81 / 7739 | ||||
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(HPO:0005379) | Severe T lymphocytopenia | 4 / 7739 | ||||
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(HPO:0005390) | Recurrent opportunistic infections | 4 / 7739 | ||||
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(HPO:0002716) | Lymphadenopathy | 129 / 7739 | ||||
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(HPO:0008866) | Failure to thrive secondary to recurrent infections | 3 / 7739 | ||||
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(HPO:0004430) | Severe combined immunodeficiency | 16 / 7739 | ||||
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(OMIM) | Candida albicans infection | 2 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Serum immunoglobulins may be absent, normal, or increased | 2 / 7739 | ||||
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(OMIM) | Normal or elevated number of peripheral blood B cells | 2 / 7739 | ||||
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(OMIM) | Normal or elevated numbers of functional natural killer cells (NK) | 2 / 7739 | ||||
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(OMIM) | Thrush | 2 / 7739 | ||||
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(OMIM) | Recurrent acute pneumonia | 3 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Clinical Description OMIM |
Cale et al. (1997) reported a child, born of consanguineous Turkish parents, who presented at age 2 months with a fever, rash, hepatosplenomegaly, lymphadenopathy, pneumonitis, and pancytopenia. Cytomegalovirus was detected in buffy coats, a liver biopsy, nasopharyngeal aspirates, ... |
Molecular genetics OMIM |
- IL7R Gene In 2 unrelated patients with T-, B+, NK+ SCID, Puel et al. (1998) identified mutations in the IL7R gene (146661.0001-146661.0004). In 3 affected patients from a consanguineous Sicilian family with T-, ... |