IMMUNODEFICIENCY, PARTIAL COMBINED, WITH ABSENCE OF HLA DETERMINANTSAND BETA-2-MICROGLOBULIN FROM LYMPHOCYTES
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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13
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OrphanetNr:
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OMIM Id:
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242870
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ICD-10:
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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:
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Prevalence:
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No data available.
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Inheritance:
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0004313)
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Decreased antibody level in blood |
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47 / 7739
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2
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(HPO:0004315)
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IgG deficiency |
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38 / 7739
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3
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(HPO:0005403)
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T lymphocytopenia |
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10 / 7739
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4
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(HPO:0005401)
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Recurrent candida infections |
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4 / 7739
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5
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(HPO:0002718)
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Recurrent bacterial infections |
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75 / 7739
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6
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(HPO:0002721)
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Immunodeficiency |
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97 / 7739
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7
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(OMIM)
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T-lymphocytes decreased |
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1 / 7739
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8
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(OMIM)
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T-cell Beta-2-microglobulin absent |
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1 / 7739
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9
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(OMIM)
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T-lymphocytes unresponsive to antigens |
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1 / 7739
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10
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(OMIM)
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Lymphocyte HLA-A, HLA-B and HLA-C determinants absent |
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1 / 7739
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11
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(OMIM)
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Plasma cell differentiation deficient |
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1 / 7739
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12
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(OMIM)
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B-lymphocyte Beta-2-microglobulin present |
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1 / 7739
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13
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(OMIM)
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B-lymphocytes present |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |