MCID: IMM015
MIFTS: 37

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 51 47
Nezelof Syndrome 11 47 53 13
T-Lymphocyte Deficiency 11 47 67
Thymic Aplasia 47 53 38
 
T-Lymphocyte Immunodeficiency 11 67
T Lymphocyte Deficiency 11 13
Nezelof's Syndrome 11 67
T-Cell Immunodeficiency 11

Characteristics:

Orphanet epidemiological data:

53
nezelof syndrome:
Inheritance: Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal

HPO:

63
immune defect due to absence of thymus:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 242700
Disease Ontology11 DOID:2012, DOID:613
ICD1029 D81.4
ICD9CM31 279.13
SNOMED-CT61 55602000, 402792003
MeSH38 C536288
NCIt44 C27145
Orphanet53 ORPHA83471
ICD10 via Orphanet30 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 Cytokines and Inflammatory Response and G-protein signaling_RhoB regulation pathway. Affiliated tissues include thymus and t cells, and related mouse phenotypes are endocrine/exocrine gland and hematopoietic system.

Description from OMIM:51 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 172)
idRelated DiseaseScoreTop Affiliating Genes
1vaccinia29.5CD4, 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 immunodeficiency12.3
5t cell immunodeficiency primary12.1
6t-cell immunodeficiency with epidermodysplasia verruciformis12.1
7alopecia and t-cell immunodeficiency12.0
8t cell deficiency11.0
9immunodeficiency due to purine nucleoside phosphorylase deficiency10.9
10digeorge syndrome10.9
11brucella abortus brucellosis10.6CD40LG, IL2
12japanese encephalitis10.5CD40LG, IL2
13rectal prolapse10.5CD4, IL2
14recurrent hypersomnia10.5CD4, CD40LG
15sapho syndrome10.4CD4, CD40LG
16diphyllobothriasis10.4CD4, CD40LG
17kallmann syndrome10.4CD4, CD40LG
18lung superior sulcus carcinoma10.4CD4, CD40LG
19cockayne syndrome10.4CD4, CD40LG
20night blindness10.4CD4, CD40LG
21visual pathway disease10.4CD4, CD40LG
22ganglioneuroblastoma10.4CD4, CD40LG
23gonococcal bursitis10.4CD4, CD40LG
24short-rib thoracic dysplasia 1210.4CD2, CD4
25lambda 5 deficiency10.4CD4, CD40LG
26cascade stomach10.4CD2, PNP
27abdominal tuberculosis10.4CD4, CD40LG
28extrapulmonary tuberculosis10.4CD4, CD40LG
29parametritis10.4CD2, PNP
30suppurative uveitis10.4CD4, CD40LG
31small intestine leiomyoma10.4CD4, CD40LG
32hypospadias10.4CD2, IL2
33atrophic gastritis10.4CD4, CD40LG
34pyrimidine metabolic disorder10.4CD4, CD40LG
35acrorenal syndrome10.4CD4, CD40LG
36differentiating neuroblastoma10.4CD4, CD40LG
37rh isoimmunization10.3CD4, CD40LG
38gait apraxia10.3CD4, CD40LG
39foodborne botulism10.3CD4, CD40LG
40estrogen-receptor positive breast cancer10.3CD4, CD40LG
41renovascular hypertension10.3CD40LG, IL2
42spondylosis10.3CD4, CD40LG
43allergic hypersensitivity disease10.3CD4, CD40LG
44hypoglycemia10.2CD4, CD40LG
45strawberry gallbladder10.2CD4, CD40LG, IL2
46spinal polio10.2CD4, CD40LG, IL2
47monoclonal paraproteinemia10.2CD2, CD4, CD40LG
48subendocardial infarction acute myocardial infarction10.2CD40LG, IL2
49metagonimiasis10.2CD4, CD40LG, IL2
50waldeyer's ring cancer10.2CD3G, CD40LG, SMARCAL1

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

Human phenotypes related to Immune Defect Due to Absence of Thymus:

 63 (show all 12)
id Description HPO Frequency HPO Source Accession
1 eczematoid dermatitis63 HP:0000976
2 pyoderma63 HP:0000999
3 hepatosplenomegaly63 HP:0001433
4 failure to thrive63 HP:0001508
5 lymphopenia63 HP:0001888
6 chronic diarrhea63 HP:0002028
7 emphysema63 HP:0002097
8 bronchiectasis63 HP:0002110
9 reduced delayed hypersensitivity63 HP:0002972
10 metaphyseal dysostosis63 HP:0005899
11 recurrent pneumonia63 HP:0006532
12 recurrent bronchopulmonary infections63 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:

35
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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053797.8CD3G, CD4, CD40LG, CD8A, IL2, TMPO
2MP:00053977.4CD3G, CD4, CD40LG, CD8A, IL2, SMARCAL1
3MP:00053877.2CD3G, 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 27)
idSuper pathwaysScoreTop Affiliating Genes
19.7CD4, IL2
29.5CD2, CD40LG, IL2
39.3CD3G, CD4, IL2
49.3CD40LG, IL2, ZAP70
5
Show member pathways
9.2CD3G, IL2, ZAP70
6
Show member pathways
9.1CD3G, CD4, ZAP70
7
Show member pathways
9.1CD3G, CD4, ZAP70
89.1CD3G, CD4, ZAP70
9
Show member pathways
8.9CD3G, CD8A, IL2
108.9CD3G, CD40LG, CD8A
118.9CD4, CD8A, IL2
128.9CD4, CD8A, IL2
138.6CD2, CD4, CD8A, IL2
148.5CD2, CD4, CD40LG, CD8A
15
Show member pathways
8.5CD3G, CD4, CD8A, IL2
168.5CD2, CD3G, CD4, CD8A
17
Show member pathways
8.4CD3G, CD4, CD40LG, IL2, ZAP70
18
Show member pathways
8.4CD3G, CD4, CD40LG, IL2, ZAP70
198.3CD4, CD40LG, CD8A, ZAP70
20
Show member pathways
8.3CD2, CD3G, CD4, CD40LG, IL2, SMARCAL1
21
Show member pathways
8.3CD3G, CD4, CD8A, ZAP70
228.3CD3G, CD4, CD8A, ZAP70
23
Show member pathways
8.3CD3G, CD4, CD8A, ZAP70
24
Show member pathways
8.1CD3G, CD4, CD40LG, CD8A, IL2
25
Show member pathways
8.1CD2, CD3G, CD4, CD40LG, IL2, ZAP70
268.0CD4, CD40LG, CD8A, IL2, ZAP70
27
Show member pathways
7.6CD3G, CD4, CD40LG, CD8A, IL2, ZAP70

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:00421018.8CD3G, CD4, CD8A, ZAP70
2cell surfaceGO:00099868.5CD2, CD4, CD40LG, CD8A
3external side of plasma membraneGO:00098978.4CD2, CD4, CD40LG, CD8A

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1natural killer cell activationGO:003010110.4CD2, IL2
2positive regulation of T cell differentiationGO:004558210.1IL2, ZAP70
3positive regulation of alpha-beta T cell differentiationGO:004663810.1PNP, ZAP70
4adaptive immune responseGO:00022509.5CD4, IL2, ZAP70
5T cell receptor signaling pathwayGO:00508529.4CD3G, CD4, ZAP70
6T cell differentiationGO:00302179.4CD4, IL2, ZAP70
7T cell costimulationGO:00312959.3CD3G, CD4, CD40LG
8regulation of immune responseGO:00507769.3CD3G, CD40LG, CD8A
9positive regulation of calcium-mediated signalingGO:00508509.2CD4, CD8A, ZAP70
10positive regulation of T cell proliferationGO:00421029.1CD4, CD40LG, IL2, PNP
11cell surface receptor signaling pathwayGO:00071668.6CD2, CD3G, CD4, CD8A
12transmembrane receptor protein tyrosine kinase signaling pathwayGO:00071698.6CD4, CD8A, ZAP70
13immune responseGO:00069557.9CD4, CD8A, IL2, PNP, ZAP70
14T cell activationGO:00421107.6CD2, CD3G, CD4, CD8A, ZAP70

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet