MCID: IMM015
MIFTS: 42

Immune Defect Due to Absence of Thymus

Categories: Rare diseases, Immune diseases, Blood diseases

Aliases & Classifications for Immune Defect Due to Absence of Thymus

MalaCards integrated aliases for Immune Defect Due to Absence of Thymus:

Name: Immune Defect Due to Absence of Thymus 57 53
Nezelof Syndrome 57 12 76 53 59 15
T-Lymphocyte Deficiency 57 12 53 73
Thymic Aplasia 57 53 59 44
T-Lymphocyte Immunodeficiency 12 73
T Lymphocyte Deficiency 12 15
Nezelof's Syndrome 12 73
T-Cell Immunodeficiency 12

Characteristics:

Orphanet epidemiological data:

59
thymic aplasia
Inheritance: Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive
some x-linked reports


HPO:

32
immune defect due to absence of thymus:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 242700
Disease Ontology 12 DOID:2012 DOID:613
ICD10 33 D81.4
ICD9CM 35 279.13
MeSH 44 C536288
SNOMED-CT 68 55602000 402792003
NCIt 50 C27145
Orphanet 59 ORPHA83471
UMLS via Orphanet 74 C0152094 C0685894
ICD10 via Orphanet 34 D81.4
MedGen 42 C2752083

Summaries for Immune Defect Due to Absence of Thymus

MalaCards based summary : Immune Defect Due to Absence of Thymus, also known as nezelof syndrome, is related to progressive multifocal leukoencephalopathy and thymic dysplasia. An important gene associated with Immune Defect Due to Absence of Thymus is IL2 (Interleukin 2), and among its related pathways/superpathways are Akt Signaling and Allograft rejection. Affiliated tissues include thymus, t cells and skin, and related phenotypes are failure to thrive and emphysema

Wikipedia : 76 Nezelof syndrome (also known as Thymic dysplasia with normal immunoglobulins) is an autosomal... more...

Description from OMIM: 242700

Related Diseases for Immune Defect Due to Absence of Thymus

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

(show all 48)
# Related Disease Score Top Affiliating Genes
1 progressive multifocal leukoencephalopathy 30.6 CD40LG IL2
2 thymic dysplasia 30.2 CD2 CD40LG FOXN1
3 t cell deficiency 28.7 CD3G FOXN1 IL2 PNP SMARCAL1 ZAP70
4 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 12.6
5 t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations 12.5
6 ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant 12.5
7 t cell immunodeficiency primary 12.2
8 t-cell immunodeficiency with epidermodysplasia verruciformis 12.2
9 skeletal dysplasia-t cell immunodeficiency-developmental delay syndrome 12.1
10 thymic aplasia with fetal death 12.0
11 purine nucleoside phosphorylase deficiency 11.3
12 murray valley encephalitis 10.6 CD40LG IL2
13 polyclonal hypergammaglobulinemia 10.6 CD2 CD40LG
14 coccidiosis 10.6 CD40LG IL2
15 exanthema subitum 10.6 CD40LG IL2
16 lepromatous leprosy 10.6 CD2 IL2
17 commensal bacterial infectious disease 10.6 CD40LG IL2
18 hypersensitivity reaction type iv disease 10.5 CD40LG IL2
19 rheumatic fever 10.5 CD40LG IL2
20 exanthem 10.5 CD40LG IL2
21 immunodeficiency 17 10.5 CD3G CD40LG
22 vernal conjunctivitis 10.5 CD40LG IL2
23 immunodeficiency with hyper-igm, type 2 10.5 CD2 CD40LG
24 brucellosis 10.4 CD40LG IL2
25 specific bursitis often of occupational origin 10.4 CD2 PNP
26 olecranon bursitis 10.4 CD2 PNP
27 leukocyte disease 10.3 CD40LG IL2
28 mumps 10.3 CD40LG IL2
29 human immunodeficiency virus infectious disease 10.3 CD40LG IL2
30 leprosy 3 10.2 CD40LG IL2
31 herpes zoster 10.1 IL2 TMPO
32 parasitic protozoa infectious disease 10.1 CD40LG IL2
33 waldenstrom macroglobulinemia 10.0 CD40LG ZAP70
34 immunodeficiency 19 9.9 CD3G ZAP70
35 b-cell expansion with nfkb and t-cell anergy 9.8 IL2 ZAP70
36 thyroiditis 9.8
37 primary bacterial infectious disease 9.8 CD40LG IL2
38 digeorge syndrome 9.7
39 agammaglobulinemia 9.7
40 lymphopenia 9.7
41 measles 9.7
42 scleroderma, familial progressive 9.7
43 down syndrome 9.7
44 graves' disease 9.7
45 vaccinia 9.7
46 autoimmune disease 9.5 CD40LG IL2 ZAP70
47 combined immunodeficiency, x-linked 9.2 CD3G CD40LG IL2 ZAP70
48 hematologic cancer 8.7 CD2 CD40LG IL2 PNP ZAP70

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

Symptoms via clinical synopsis from OMIM:

57
Growth:
failure to thrive

Heme:
lymphopenia

Skin:
pyoderma
eczematoid rash

Skel:
metaphyseal dysostosis

Pulmonary:
emphysema
bronchiectasis
chronic bronchopulmonary infection

GI:
chronic diarrhea
hepatosplenomegaly

Immunology:
absent thymus
t-cell deficiency
impaired delayed hypersensitivity
poor skin graft rejection
normal humoral immunity
more
Misc:
recurrent pseudomonas and monilia infections
susceptibility to viral infections


Clinical features from OMIM:

242700

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

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 emphysema 32 HP:0002097
3 lymphopenia 32 HP:0001888
4 chronic diarrhea 32 HP:0002028
5 recurrent pneumonia 32 HP:0006532
6 bronchiectasis 32 HP:0002110
7 hepatosplenomegaly 32 HP:0001433
8 aplasia of the thymus 32 HP:0005359
9 recurrent bronchopulmonary infections 32 HP:0006538
10 eczematoid dermatitis 32 HP:0000976
11 pyoderma 32 HP:0000999
12 metaphyseal dysostosis 32 HP:0005899
13 reduced delayed hypersensitivity 32 HP:0002972

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.43 CD3G CD40LG FOXN1 IL2 TMPO ZAP70
2 hematopoietic system MP:0005397 9.17 CD3G CD40LG FOXN1 IL2 SMARCAL1 TMPO

Drugs & Therapeutics for Immune Defect Due to Absence of Thymus

Search Clinical Trials , 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

Anatomical Context for Immune Defect Due to Absence of Thymus

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

41
Thymus, T Cells, Skin

Publications for Immune Defect Due to Absence of Thymus

Articles related to Immune Defect Due to Absence of Thymus:

# Title Authors Year
1
Nezelof syndrome. ( 7251125 )
1980
2
Report of a case of Nezelof syndrome. ( 7449523 )
1980
3
Thymic dysplasia with normal immunoglobulins (the Nezelof syndrome). (A case report). ( 1052394 )
1976
4
Thymic dysplasia with normal immunoglobulins (Nezelof syndrome): a case report. ( 932589 )
1976

Variations for Immune Defect Due to Absence of Thymus

Expression for Immune Defect Due to Absence of Thymus

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

Pathways for Immune Defect Due to Absence of Thymus

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.02 CD2 CD3G CD40LG IL2 ZAP70
2
Show member pathways
12.47 CD3G CD40LG IL2 ZAP70
3
Show member pathways
12.09 CD3G IL2 ZAP70
4 12.07 CD2 CD40LG IL2 ZAP70
5
Show member pathways
11.87 CD3G CD40LG IL2 ZAP70
6
Show member pathways
11.65 CD3G IL2 ZAP70
7
Show member pathways
11.64 CD3G CD40LG IL2 ZAP70
8
Show member pathways
11.32 CD3G IL2
9 11.29 CD2 CD40LG
10 11.21 CD3G ZAP70
11 11.02 CD40LG ZAP70
12 10.9 IL2 ZAP70
13 10.82 CD3G IL2
14 10.32 CD40LG IL2 ZAP70

GO Terms for Immune Defect Due to Absence of Thymus

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

# Name GO ID Score Top Affiliating Genes
1 T cell receptor complex GO:0042101 8.62 CD3G ZAP70

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

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.62 CD40LG IL2 PNP ZAP70
2 adaptive immune response GO:0002250 9.61 CD3G IL2 ZAP70
3 T cell differentiation GO:0030217 9.4 IL2 ZAP70
4 natural killer cell activation GO:0030101 9.37 CD2 IL2
5 positive regulation of T cell differentiation GO:0045582 9.26 IL2 ZAP70
6 positive regulation of alpha-beta T cell differentiation GO:0046638 9.16 PNP ZAP70
7 positive regulation of T cell proliferation GO:0042102 9.13 CD40LG IL2 PNP
8 T cell activation GO:0042110 8.8 CD2 CD3G ZAP70

Sources for Immune Defect Due to Absence of Thymus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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