MCID: IMM015
MIFTS: 38

Immune Defect Due to Absence of Thymus malady

Categories: Rare diseases, Immune diseases, Blood diseases

Aliases & Classifications for Immune Defect Due to Absence of Thymus

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Aliases & Descriptions for Immune Defect Due to Absence of Thymus:

Name: Immune Defect Due to Absence of Thymus 50 46
Nezelof Syndrome 11 46 13 52
T-Lymphocyte Deficiency 11 46 66
Thymic Aplasia 46 52 37
 
T-Lymphocyte Immunodeficiency 11 66
T Lymphocyte Deficiency 11 13
Nezelof's Syndrome 11 66
T-Cell Immunodeficiency 11

Characteristics:

Orphanet epidemiological data:

52
nezelof syndrome:
Inheritance: Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal

HPO:

62
immune defect due to absence of thymus:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 242700
Disease Ontology11 DOID:2012, DOID:613
ICD1028 D81.4
ICD9CM30 279.13
SNOMED-CT60 55602000, 402792003
MeSH37 C536288
NCIt43 C27145
Orphanet52 ORPHA83471
ICD10 via Orphanet29 D81.4

Summaries for Immune Defect Due to Absence of Thymus

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MalaCards based summary: Immune Defect Due to Absence of Thymus, also known as nezelof syndrome, is related to vaccinia and t-cell immunodeficiency, congenital alopecia, and nail dystrophy, and has symptoms including eczematoid dermatitis, pyoderma and hepatosplenomegaly. An important gene associated with Immune Defect Due to Absence of Thymus is IL2 (Interleukin 2), and among its related pathways are Inflammatory Response Pathway and Cytokines and Inflammatory Response. Affiliated tissues include thymus and t cells, and related mouse phenotypes are endocrine/exocrine gland and hematopoietic system.

Description from OMIM:50 242700

Related Diseases for Immune Defect Due to Absence of Thymus

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Diseases related to Immune Defect Due to Absence of Thymus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 173)
idRelated DiseaseScoreTop Affiliating Genes
1vaccinia29.7CD4, CD8A
2t-cell immunodeficiency, congenital alopecia, and nail dystrophy12.5
3t-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations12.4
4ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency12.4
5t cell immunodeficiency primary12.2
6t-cell immunodeficiency with epidermodysplasia verruciformis12.2
7alopecia and t-cell immunodeficiency12.1
8t cell deficiency11.2
9brucella abortus brucellosis10.7CD40LG, IL2
10japanese encephalitis10.6CD40LG, IL2
11rectal prolapse10.6CD4, IL2
12recurrent hypersomnia10.5CD4, CD40LG
13sapho syndrome10.5CD4, CD40LG
14diphyllobothriasis10.5CD4, CD40LG
15kallmann syndrome10.5CD4, CD40LG
16lung superior sulcus carcinoma10.5CD4, CD40LG
17cockayne syndrome10.5CD4, CD40LG
18night blindness10.5CD4, CD40LG
19visual pathway disease10.5CD4, CD40LG
20ganglioneuroblastoma10.5CD4, CD40LG
21short-rib thoracic dysplasia 1210.5CD2, CD4
22gonococcal bursitis10.5CD4, CD40LG
23lambda 5 deficiency10.5CD4, CD40LG
24abdominal tuberculosis10.5CD4, CD40LG
25cascade stomach10.5CD2, PNP
26hypospadias10.5CD2, IL2
27extrapulmonary tuberculosis10.5CD4, CD40LG
28parametritis10.5CD2, PNP
29suppurative uveitis10.5CD4, CD40LG
30small intestine leiomyoma10.5CD4, CD40LG
31atrophic gastritis10.5CD4, CD40LG
32pyrimidine metabolic disorder10.4CD4, CD40LG
33acrorenal syndrome10.4CD4, CD40LG
34differentiating neuroblastoma10.4CD4, CD40LG
35rh isoimmunization10.4CD4, CD40LG
36gait apraxia10.4CD4, CD40LG
37foodborne botulism10.4CD4, CD40LG
38renovascular hypertension10.4CD40LG, IL2
39estrogen-receptor positive breast cancer10.4CD4, CD40LG
40spondylosis10.3CD4, CD40LG
41allergic hypersensitivity disease10.3CD4, CD40LG
42hypoglycemia10.3CD4, CD40LG
43subendocardial infarction acute myocardial infarction10.3CD40LG, IL2
44strawberry gallbladder10.3CD4, CD40LG, IL2
45spinal polio10.3CD4, CD40LG, IL2
46monoclonal paraproteinemia10.3CD2, CD4, CD40LG
47esophagus melanoma10.3CD40LG, IL2
48metagonimiasis10.3CD4, CD40LG, IL2
49waldeyer's ring cancer10.3CD3G, CD40LG, SMARCAL1
50central pontine myelinolysis10.3CD4, CD40LG, IL2

Graphical network of the top 20 diseases related to Immune Defect Due to Absence of Thymus:



Diseases related to immune defect due to absence of thymus

Symptoms for Immune Defect Due to Absence of Thymus

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Symptoms by clinical synopsis from OMIM:

242700

Clinical features from OMIM:

242700

HPO human phenotypes related to Immune Defect Due to Absence of Thymus:

(show all 12)
id Description Frequency HPO Source Accession
1 eczematoid dermatitis HP:0000976
2 pyoderma HP:0000999
3 hepatosplenomegaly HP:0001433
4 failure to thrive HP:0001508
5 lymphopenia HP:0001888
6 chronic diarrhea HP:0002028
7 emphysema HP:0002097
8 bronchiectasis HP:0002110
9 reduced delayed hypersensitivity HP:0002972
10 metaphyseal dysostosis HP:0005899
11 recurrent pneumonia HP:0006532
12 recurrent bronchopulmonary infections HP:0006538

Drugs & Therapeutics for Immune Defect Due to Absence of Thymus

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Immune Defect Due to Absence of Thymus


Cochrane evidence based reviews: thymic aplasia

Genetic Tests for Immune Defect Due to Absence of Thymus

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Anatomical Context for Immune Defect Due to Absence of Thymus

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MalaCards organs/tissues related to Immune Defect Due to Absence of Thymus:

34
Thymus, T cells

Animal Models for Immune Defect Due to Absence of Thymus or affiliated genes

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MGI Mouse Phenotypes related to Immune Defect Due to Absence of Thymus:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053797.5CD3G, CD4, CD40LG, CD8A, IL2, TMPO
2MP:00053976.8CD3G, CD4, CD40LG, CD8A, IL2, SMARCAL1

Publications for Immune Defect Due to Absence of Thymus

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Variations for Immune Defect Due to Absence of Thymus

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Expression for genes affiliated with Immune Defect Due to Absence of Thymus

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Search GEO for disease gene expression data for Immune Defect Due to Absence of Thymus.

Pathways for genes affiliated with Immune Defect Due to Absence of Thymus

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Pathways related to Immune Defect Due to Absence of Thymus according to GeneCards Suite gene sharing:

(show all 23)
idSuper pathwaysScoreTop Affiliating Genes
19.8CD40LG, IL2
29.7CD4, IL2
39.5CD2, CD40LG, IL2
4
Show member pathways
9.3CD3G, CD4, IL2
59.3CD3G, CD4, IL2
6
Show member pathways
9.0CD3G, CD4, CD40LG, IL2
7
Show member pathways
9.0CD3G, CD4, CD40LG, IL2
8
Show member pathways
8.9CD3G, CD8A, IL2
98.9CD3G, CD40LG, CD8A
108.9CD4, CD8A, IL2
118.9CD4, CD8A, IL2
128.9CD4, CD40LG, CD8A
138.8CD3G, CD4, CD8A
14
Show member pathways
8.8CD3G, CD4, CD8A
15
Show member pathways
8.6CD2, CD3G, CD4, CD40LG, IL2
168.6CD2, CD4, CD8A, IL2
178.6CD4, CD40LG, CD8A, IL2
188.5CD2, CD4, CD40LG, CD8A
19
Show member pathways
8.5CD3G, CD4, CD8A, IL2
208.5CD2, CD3G, CD4, CD8A
21
Show member pathways
8.3CD2, CD3G, CD4, CD40LG, IL2, SMARCAL1
22
Show member pathways
8.1CD3G, CD4, CD40LG, CD8A, IL2
23
Show member pathways
8.1CD3G, CD4, CD40LG, CD8A, IL2

GO Terms for genes affiliated with Immune Defect Due to Absence of Thymus

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Cellular components related to Immune Defect Due to Absence of Thymus according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1T cell receptor complexGO:00421019.3CD3G, CD4, CD8A
2external side of plasma membraneGO:00098978.6CD2, CD4, CD40LG, CD8A
3cell surfaceGO:00099868.5CD2, CD4, CD40LG, CD8A

Biological processes related to Immune Defect Due to Absence of Thymus according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1natural killer cell activationGO:003010110.4CD2, IL2
2T cell differentiationGO:00302179.9CD4, IL2
3positive regulation of calcium-mediated signalingGO:00508509.7CD4, CD8A
4T cell costimulationGO:00312959.3CD3G, CD4, CD40LG
5regulation of immune responseGO:00507769.2CD3G, CD40LG, CD8A
6positive regulation of T cell proliferationGO:00421029.0CD4, CD40LG, IL2, PNP
7T cell activationGO:00421108.5CD2, CD3G, CD4, CD8A
8immune responseGO:00069558.4CD4, CD8A, IL2, PNP
9cell surface receptor signaling pathwayGO:00071668.2CD2, CD3G, CD4, CD8A

Molecular functions related to Immune Defect Due to Absence of Thymus according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1coreceptor activityGO:00150269.2CD4, CD8A

Sources for Immune Defect Due to Absence of Thymus

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet