Common variable immunodeficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CVID Idiopathic immunoglobulin deficiency Primary hypogammaglobulinemia Primary antibody deficiency |
| Number of Symptoms | 30 |
| OrphanetNr: | 1572 |
| OMIM Id: |
146830
240500 607594 613493 613494 613495 613496 614699 614700 615559 615577 |
| ICD-10: |
D83 |
| UMLs: |
C0009447 |
| MeSH: |
D017074 |
| MedDRA: |
10021449 |
| Snomed: |
23238000 |
Prevalence, inheritance and age of onset:
| Prevalence: | 4 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive Not applicable [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Immunodeficiency predominantly affecting antibody production
-Rare genetic disease -Rare immune disease Inherited cancer-predisposing syndrome -Rare genetic disease -Rare oncologic disease |
Symptom Information:
|
|
(HPO:0000246) | Sinusitis | Very frequent [Orphanet] | 73 / 7739 | |||
|
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(HPO:0000389) | Chronic otitis media | Very frequent [Orphanet] | 64 / 7739 | |||
|
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(HPO:0005059) | Arthralgia/arthritis | Occasional [Orphanet] | 141 / 7739 | |||
|
|
(HPO:0002910) | Elevated hepatic transaminases | Frequent [Orphanet] | 158 / 7739 | |||
|
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(HPO:0002024) | Malabsorption | Frequent [Orphanet] | 142 / 7739 | |||
|
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(HPO:0006753) | Neoplasm of the stomach | Occasional [Orphanet] | 13 / 7739 | |||
|
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(HPO:0100723) | Gastrointestinal stroma tumor | Occasional [Orphanet] | 7 / 7739 | |||
|
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(HPO:0001744) | Splenomegaly | Frequent [Orphanet] | 337 / 7739 | |||
|
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(HPO:0001080) | Biliary tract abnormality | Frequent [Orphanet] | 26 / 7739 | |||
|
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(HPO:0004325) | Decreased body weight | Occasional [Orphanet] | 492 / 7739 | |||
|
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(HPO:0001933) | Subcutaneous hemorrhage | Frequent [Orphanet] | 50 / 7739 | |||
|
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(HPO:0012089) | Arteritis | Occasional [Orphanet] | 40 / 7739 | |||
|
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(HPO:0001882) | Leukopenia | Very frequent [Orphanet] | 51 / 7739 | |||
|
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(HPO:0004315) | IgG deficiency | 38 / 7739 | ||||
|
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(HPO:0001878) | Hemolytic anemia | Frequent [Orphanet] | 83 / 7739 | |||
|
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(HPO:0001873) | Thrombocytopenia | Very frequent [Orphanet] | 224 / 7739 | |||
|
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(HPO:0002720) | IgA deficiency | 33 / 7739 | ||||
|
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(HPO:0002665) | Lymphoma | Occasional [Orphanet] | 60 / 7739 | |||
|
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(HPO:0001888) | Lymphopenia | Very frequent [Orphanet] | 43 / 7739 | |||
|
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(HPO:0010701) | Abnormal immunoglobulin level | Very frequent [Orphanet] | 49 / 7739 | |||
|
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(HPO:0011227) | Elevated C-reactive protein level | Occasional [Orphanet] | 55 / 7739 | |||
|
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(HPO:0002205) | Recurrent respiratory infections | Very frequent [Orphanet] | 254 / 7739 | |||
|
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(HPO:0002091) | Restrictive ventilatory defect | Occasional [Orphanet] | 46 / 7739 | |||
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(HPO:0002097) | Emphysema | Occasional [Orphanet] | 40 / 7739 | |||
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(HPO:0002110) | Bronchiectasis | Frequent [Orphanet] | 73 / 7739 | |||
|
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(HPO:0010978) | Abnormality of immune system physiology | Very frequent [Orphanet] | 148 / 7739 | |||
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(HPO:0002716) | Lymphadenopathy | Frequent [Orphanet] | 129 / 7739 | |||
|
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(HPO:0002719) | Recurrent infections | 107 / 7739 | ||||
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(HPO:0002721) | Immunodeficiency | 97 / 7739 | ||||
|
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|