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 52 48
Nezelof Syndrome 11 48 54 13
T-Lymphocyte Deficiency 11 48 68
Thymic Aplasia 48 54 39
 
T-Lymphocyte Immunodeficiency 11 68
T Lymphocyte Deficiency 11 13
Nezelof's Syndrome 11 68
T-Cell Immunodeficiency 11

Characteristics:

Orphanet epidemiological data:

54
nezelof syndrome:
Inheritance: Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal

HPO:

64
immune defect due to absence of thymus:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 242700
Disease Ontology11 DOID:2012, DOID:613
ICD1030 D81.4
ICD9CM32 279.13
SNOMED-CT62 55602000, 402792003
MeSH39 C536288
NCIt45 C27145
Orphanet54 ORPHA83471
ICD10 via Orphanet31 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 t-cell immunodeficiency, congenital alopecia, and nail dystrophy and t-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 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 G-protein signaling_RhoB regulation pathway and Cytokines and Inflammatory Response. Affiliated tissues include thymus and t cells, and related mouse phenotypes are cellular and endocrine/exocrine gland.

Description from OMIM:52 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 133)
idRelated DiseaseScoreTop Affiliating Genes
1t-cell immunodeficiency, congenital alopecia, and nail dystrophy12.5
2t-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations12.4
3ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency12.3
4t cell immunodeficiency primary12.1
5t-cell immunodeficiency with epidermodysplasia verruciformis12.1
6alopecia and t-cell immunodeficiency12.0
7t cell deficiency11.0
8immunodeficiency due to purine nucleoside phosphorylase deficiency10.9
9digeorge syndrome10.9
10hemangioma of orbit10.3CD40LG, IL2
11st. louis encephalitis10.2CD40LG, IL2
12steatitis10.2CD8A, IL2
13paralytic poliomyelitis10.2CD8A, IL2
14temtamy syndrome10.2CD2, CD40LG
15mild pre-eclampsia10.2CD40LG, CD8A
16postcricoid region cancer10.2CD40LG, CD8A
17primary thrombocytopenia10.2CD40LG, CD8A
18chronic inflammatory demyelinating polyneuritis10.2CD40LG, CD8A
19hereditary retinal dystrophy10.2CD2, CD8A
20tonsillar fossa cancer10.1CD3G, CD40LG, SMARCAL1
21angiosarcoma10.1CD40LG, ZAP70
22cerebellar liponeurocytoma10.1CD40LG, IL2
23viral infectious disease10.1CD4, IL2
24deafness, autosomal dominant 4310.1CD8A, ZAP70
25prostate carcinoma in situ10.1CD4, CD40LG
26chronic duodenal ileus10.1CD4, CD40LG
27cysticercosis10.1CD4, CD40LG
28atypical breast papilloma10.1CD4, CD40LG
29angiolipoma10.1CD4, CD40LG
30bursitis10.1CD4, CD40LG
31syphilis10.1CD4, CD40LG
32dermatitis herpetiformis10.1CD4, CD40LG
33immunoglobulin beta deficiency10.1CD4, CD40LG
34hydronephrosis10.1CD4, CD40LG
35gonococcal synovitis10.1CD4, CD40LG
36facial paralysis10.1CD4, CD40LG
37bile reflux10.1CD2, CD8A, PNP
38polyneuropathy due to drug10.1CD4, CD40LG
39perineocele10.1CD2, CD8A, PNP
40thrombophlebitis migrans10.0CD4, CD40LG
41uveitis10.0CD4, CD40LG
42alcoholic pancreatitis10.0CD4, CD8A
43orbital disease10.0CD4, CD8A
44omodysplasia 210.0CD2, CD4
45abdominal tuberculosis10.0CD4, CD40LG
46scrotum melanoma10.0CD4, CD8A
47cervix melanoma10.0CD4, CD8A
48ovarian clear cell malignant adenofibroma10.0CD2, CD4
49severe nonproliferative diabetic retinopathy10.0CD4, CD40LG
50scrotum squamous cell carcinoma10.0CD4, CD8A

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 & Phenotypes 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:

 64 (show all 12)
id Description HPO Frequency HPO Source Accession
1 eczematoid dermatitis64 HP:0000976
2 pyoderma64 HP:0000999
3 hepatosplenomegaly64 HP:0001433
4 failure to thrive64 HP:0001508
5 lymphopenia64 HP:0001888
6 chronic diarrhea64 HP:0002028
7 emphysema64 HP:0002097
8 bronchiectasis64 HP:0002110
9 reduced delayed hypersensitivity64 HP:0002972
10 metaphyseal dysostosis64 HP:0005899
11 recurrent pneumonia64 HP:0006532
12 recurrent bronchopulmonary infections64 HP:0006538

MGI Mouse Phenotypes related to Immune Defect Due to Absence of Thymus according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053848.0CD3G, CD4, CD40LG, CD8A, IL2, SMARCAL1
2MP:00053797.7CD3G, CD4, CD40LG, CD8A, IL2, TMPO
3MP:00053977.3CD3G, CD4, CD40LG, CD8A, IL2, SMARCAL1
4MP:00053877.1CD3G, CD4, CD40LG, CD8A, IL2, SMARCAL1

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:

36
Thymus, T cells

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 31)
idSuper pathwaysScoreTop Affiliating Genes
19.5CD2, CD40LG, IL2
29.4CD4, IL2
3
Show member pathways
9.2CD3G, CD8A, IL2
49.2CD40LG, IL2, ZAP70
59.2CD3G, CD40LG, CD8A
6
Show member pathways
9.1CD3G, IL2, ZAP70
79.0CD8A, IL2, ZAP70
88.9CD3G, CD4, IL2
98.8CD4, CD8A, IL2
108.8CD4, CD8A, IL2
11
Show member pathways
8.6CD3G, CD4, ZAP70
12
Show member pathways
8.6CD3G, CD4, ZAP70
13
Show member pathways
8.6CD3G, CD4, ZAP70
14
Show member pathways
8.6CD3G, CD4, ZAP70
158.6CD3G, CD4, ZAP70
168.5CD2, CD4, CD8A, IL2
178.5CD2, CD4, CD40LG, CD8A
18
Show member pathways
8.4CD3G, CD4, CD8A, IL2
198.4CD2, CD3G, CD4, CD8A
208.4CD2, CD40LG, CD8A, IL2, ZAP70
21
Show member pathways
8.3CD3G, CD4, IL2, ZAP70
228.2CD4, CD40LG, CD8A, ZAP70
23
Show member pathways
8.1CD3G, CD4, CD8A, ZAP70
24
Show member pathways
8.1CD3G, CD4, CD8A, ZAP70
258.1CD3G, CD4, CD8A, ZAP70
26
Show member pathways
8.1CD3G, CD4, CD40LG, CD8A, IL2
27
Show member pathways
8.0CD3G, CD4, CD40LG, IL2, ZAP70
28
Show member pathways
8.0CD3G, CD4, CD40LG, IL2, ZAP70
29
Show member pathways
7.9CD2, CD3G, CD4, CD40LG, IL2, SMARCAL1
30
Show member pathways
7.7CD2, CD3G, CD4, CD40LG, IL2, ZAP70
31
Show member pathways
7.5CD3G, 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
1cell surfaceGO:00099869.2CD2, CD4, CD40LG, CD8A
2external side of plasma membraneGO:00098979.2CD2, CD4, CD40LG, CD8A
3integral component of plasma membraneGO:00058878.4CD2, CD3G, CD4, CD40LG, CD8A
4T cell receptor complexGO:00421018.1CD3G, CD4, CD8A, ZAP70

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1natural killer cell activationGO:003010110.5CD2, IL2
2positive regulation of T cell differentiationGO:004558210.2IL2, ZAP70
3positive regulation of alpha-beta T cell differentiationGO:004663810.1PNP, ZAP70
4regulation of immune responseGO:00507769.8CD3G, CD40LG, CD8A
5T cell costimulationGO:00312959.5CD3G, CD4, CD40LG
6adaptive immune responseGO:00022509.5CD4, IL2, ZAP70
7T cell differentiationGO:00302179.3CD4, IL2, ZAP70
8positive regulation of T cell proliferationGO:00421029.2CD4, CD40LG, IL2, PNP
9positive regulation of calcium-mediated signalingGO:00508509.2CD4, CD8A, ZAP70
10T cell receptor signaling pathwayGO:00508529.2CD3G, CD4, ZAP70
11cell surface receptor signaling pathwayGO:00071669.1CD2, CD3G, CD4, CD8A
12immune system processGO:00023768.9CD4, CD8A, IL2, ZAP70
13transmembrane receptor protein tyrosine kinase signaling pathwayGO:00071698.5CD4, CD8A, ZAP70
14T cell activationGO:00421108.4CD2, CD3G, CD4, CD8A, ZAP70
15immune responseGO:00069558.1CD4, CD40LG, CD8A, IL2, PNP, ZAP70

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

idNameGO IDScoreTop Affiliating Genes
1coreceptor activityGO:00150269.1CD4, CD8A

Sources for Immune Defect Due to Absence of Thymus

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet