LYMPHOID SYSTEM DETERIORATION, PROGRESSIVE
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 8 |
| OrphanetNr: | |
| OMIM Id: |
247630
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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:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0004315) | IgG deficiency | 38 / 7739 | ||||
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(HPO:0002850) | IgM deficiency | 18 / 7739 | ||||
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(HPO:0001876) | Pancytopenia | 89 / 7739 | ||||
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(HPO:0002843) | Abnormality of T cells | 7 / 7739 | ||||
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(HPO:0001888) | Lymphopenia | 43 / 7739 | ||||
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(HPO:0005368) | Abnormality of humoral immunity | 3 / 7739 | ||||
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(OMIM) | Normal IgA | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Seeger et al. (1970) described brother and sister with a 'new' immunologic disorder, characterized by defective cellular and humoral immunity, associated bone marrow aplasia, deficiency of IgG and IgM, and normal IgA. One patient developed graft-versus-host reaction (see ... |