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
ICD-10: D81.4
UMLs:
MeSH:
MedDRA:
Snomed:

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: Sort by abundance 

1
(HPO:0005899) Metaphyseal dysostosis 2 / 7739
2
(HPO:0002028) Chronic diarrhea 51 / 7739
3
(HPO:0001433) Hepatosplenomegaly 78 / 7739
4
(HPO:0001508) Failure to thrive 454 / 7739
5
(HPO:0000976) Eczematoid dermatitis 22 / 7739
6
(HPO:0000999) Pyoderma 7 / 7739
7
(HPO:0001888) Lymphopenia 43 / 7739
8
(HPO:0002843) Abnormality of T cells 7 / 7739
9
(HPO:0002972) Reduced delayed hypersensitivity 7 / 7739
10
(HPO:0006532) Recurrent pneumonia 48 / 7739
11
(HPO:0006538) Recurrent bronchopulmonary infections 6 / 7739
12
(HPO:0002097) Emphysema 40 / 7739
13
(HPO:0002110) Bronchiectasis 73 / 7739
14
(OMIM) Impaired antibody synthesis 1 / 7739
15
(OMIM) Poor skin graft rejection 1 / 7739
16
(OMIM) Normal humoral immunity 1 / 7739
17
(OMIM) Absent thymus 2 / 7739
18
(OMIM) Chronic bronchopulmonary infection 2 / 7739
19
(OMIM) Eczematoid rash 1 / 7739
20
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
21
(OMIM) Normal or increased levels of one or more of the major immunoglobulin classes 1 / 7739
22
(OMIM) T-cell deficiency 2 / 7739
23
(OMIM) Decreased lymphoid tissue but plasma cells present 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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 ...