Combined immunodeficiency due to STIM1 deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 2 STIM1 DEFICIENCY IMD10 CID due to STIM1 deficiency |
| Number of Symptoms | 21 |
| OrphanetNr: | 317430 |
| OMIM Id: |
612783
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| ICD-10: |
D81.8 |
| 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 [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Combined immunodeficiency due to CRAC channel dysfunction
-Rare genetic disease -Rare immune disease |
Symptom Information:
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(HPO:0007676) | Hypoplasia of the iris | 22 / 7739 | ||||
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(HPO:0100726) | Kaposi's sarcoma | 3 / 7739 | ||||
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(HPO:0001890) | Autoimmune hemolytic anemia | 17 / 7739 | ||||
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(HPO:0001873) | Thrombocytopenia | 224 / 7739 | ||||
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(HPO:0001954) | Episodic fever | 27 / 7739 | ||||
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(HPO:0002716) | Lymphadenopathy | 129 / 7739 | ||||
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(HPO:0002721) | Immunodeficiency | 97 / 7739 | ||||
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(HPO:0002718) | Recurrent bacterial infections | 75 / 7739 | ||||
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(HPO:0003198) | Myopathy | 151 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(OMIM) | Iris hypoplasia, partial | 1 / 7739 | ||||
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(OMIM) | Normal serum immunoglobulin levels | 2 / 7739 | ||||
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(OMIM) | Impaired T cell proliferative response | 2 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Myopathy, nonprogressive | 3 / 7739 | ||||
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(OMIM) | Impaired T cell activation | 2 / 7739 | ||||
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(MedDRA:10025260) | Lymphocyte count normal | 2 / 7739 | ||||
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(OMIM) | Defective enamel development | 1 / 7739 | ||||
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(OMIM) | Susceptibility to infection with human herpesvirus | 1 / 7739 | ||||
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(OMIM) | Impaired seroconversion of immunoglobulins in response to vaccination | 2 / 7739 | ||||
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(OMIM) | Decreased T cell production of cytokines | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Picard et al. (2009) reported 3 sibs, born of a consanguineous family from central Europe, who had recurrent infections due to defective T-cell function. Muscle hypotonia and partial iris hypoplasia were noted in the neonatal period. Within a ... |
| Molecular genetics OMIM |
In 2 sibs with immune dysfunction due to T-cell inactivation, Picard et al. (2009) identified a homozygous truncating mutation in the STIM1 gene (605921.0001). Using whole-exome sequencing, Byun et al. (2010) identified a homozygous splice site ... |