Thymic aplasia
General Information (adopted from Orphanet):
Synonyms, Signs: |
THYMIC APLASIA T-LYMPHOCYTE DEFICIENCY nezelof syndrome |
Number of Symptoms | 23 |
OrphanetNr: | 83471 |
OMIM Id: |
242700
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ICD-10: |
D81.4 |
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 X-linked recessive [Orphanet] |
Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Immunodeficiency due to absence of thymus
-Rare genetic disease -Rare immune disease |
Symptom Information:
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(HPO:0005899) | Metaphyseal dysostosis | 2 / 7739 | ||||
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(HPO:0002028) | Chronic diarrhea | 51 / 7739 | ||||
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(HPO:0001433) | Hepatosplenomegaly | 78 / 7739 | ||||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0000976) | Eczematoid dermatitis | 22 / 7739 | ||||
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(HPO:0000999) | Pyoderma | 7 / 7739 | ||||
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(HPO:0001888) | Lymphopenia | 43 / 7739 | ||||
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(HPO:0002843) | Abnormality of T cells | 7 / 7739 | ||||
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(HPO:0002972) | Reduced delayed hypersensitivity | 7 / 7739 | ||||
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(HPO:0006532) | Recurrent pneumonia | 48 / 7739 | ||||
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(HPO:0006538) | Recurrent bronchopulmonary infections | 6 / 7739 | ||||
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(HPO:0002097) | Emphysema | 40 / 7739 | ||||
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(HPO:0002110) | Bronchiectasis | 73 / 7739 | ||||
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(OMIM) | Impaired antibody synthesis | 1 / 7739 | ||||
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(OMIM) | Poor skin graft rejection | 1 / 7739 | ||||
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(OMIM) | Normal humoral immunity | 1 / 7739 | ||||
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(OMIM) | Absent thymus | 2 / 7739 | ||||
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(OMIM) | Chronic bronchopulmonary infection | 2 / 7739 | ||||
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(OMIM) | Eczematoid rash | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Normal or increased levels of one or more of the major immunoglobulin classes | 1 / 7739 | ||||
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(OMIM) | T-cell deficiency | 2 / 7739 | ||||
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(OMIM) | Decreased lymphoid tissue but plasma cells present | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Clinical Description OMIM |
Nezelof et al. (1964) first reported the syndrome of T-cell deficiency with little or no abnormality of gammaglobulin. The possibility of a separate entity distinct from Bruton type agammaglobulinemia (300755), in which the tonsillar system is absent, and ... |