MCID: IMM015
MIFTS: 43

Immune Defect Due to Absence of Thymus

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare 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 58 54
Nezelof Syndrome 58 12 77 54 60 15
Thymic Aplasia 58 12 54 60 45
T-Lymphocyte Deficiency 58 54 74
Nezelof's Syndrome 12 74
Thymic Dysplasia with Normal Immunoglobulins 12
T-Lymphocyte Immunodeficiency 74

Characteristics:

Orphanet epidemiological data:

60
thymic aplasia
Inheritance: Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive
some x-linked reports


HPO:

33
immune defect due to absence of thymus:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:2012
OMIM 58 242700
ICD9CM 36 279.13
MeSH 45 C536288
SNOMED-CT 69 55602000
ICD10 34 D81.4
ICD10 via Orphanet 35 D81.4
UMLS via Orphanet 75 C0152094 C0685894
Orphanet 60 ORPHA83471
MedGen 43 C2752083

Summaries for Immune Defect Due to Absence of Thymus

Disease Ontology : 12 A primary immunodeficiency disease that results from the disfunction or underdevelopment of the thymus.

MalaCards based summary : Immune Defect Due to Absence of Thymus, also known as nezelof syndrome, is related to t cell deficiency and thymic dysplasia. An important gene associated with Immune Defect Due to Absence of Thymus is TMPO (Thymopoietin), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and NF-kappaB Signaling. Affiliated tissues include thymus, t cells and skin, and related phenotypes are failure to thrive and emphysema

Wikipedia : 77 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 top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 t cell deficiency 32.7 CD2 IL2
2 thymic dysplasia 30.4 CD2 CD7
3 combined t cell and b cell immunodeficiency 30.2 CD34 IL2
4 thymic aplasia with fetal death 12.2
5 variola major 10.3 IFNG IL2
6 mast cell neoplasm 10.3 CD2 IL2
7 fixed drug eruption 10.3 IFNG IL2
8 berylliosis 10.3 IFNG IL2
9 atopic keratoconjunctivitis 10.3 IFNG IL2
10 clonorchiasis 10.3 IFNG IL2
11 crohn's colitis 10.3 IFNG IL2
12 chronic active epstein-barr virus infection 10.3 IFNG IL2
13 intermediate uveitis 10.3 IFNG IL2
14 posterior uveitis 10.3 IFNG IL2
15 mucinoses 10.3 CD44 IFNG
16 breast giant fibroadenoma 10.3 CD44 IFNG
17 erythema multiforme 10.3 IFNG IL2
18 coccidiosis 10.3 IFNG IL2
19 hematopoietic stem cell transplantation 10.3 IFNG IL2
20 vernal conjunctivitis 10.2 IFNG IL2
21 aseptic meningitis 10.2 CD44 IFNG
22 extracutaneous mastocytoma 10.2 CD2 CD34
23 stevens-johnson syndrome/toxic epidermal necrolysis 10.2 IFNG IL2
24 autoimmune disease of endocrine system 10.2 IFNG IL2
25 prostate leiomyosarcoma 10.2 CD34 CD44
26 hypersensitivity reaction type iv disease 10.2 IFNG IL2
27 leprosy 3 10.2 IFNG IL2
28 herpes zoster 10.2 IFNG IL2 TMPO
29 murray valley encephalitis 10.2 IL2 THY1
30 myasthenia gravis 10.2 IFNG IL2 TMPO
31 acute graft versus host disease 10.1 IFNG IL2
32 congenital epulis 10.1 CD34 CD44
33 lepromatous leprosy 10.1 CD2 IFNG IL2
34 invasive malignant thymoma 10.1 CD34 TMSB4X
35 lymphangiosarcoma 10.1 CD34 IL2
36 autoimmune uveitis 10.1 IFNG IL2
37 warthin tumor 10.1 CD44 THY1
38 gastrointestinal system disease 10.1 CD44 IFNG IL2
39 paracoccidioidomycosis 10.1 IFNG IL2
40 neutropenia 10.1
41 severe combined immunodeficiency 10.1
42 testicular disease 10.1 IFNG IL2
43 leukocyte disease 10.0 CD2 CD34 IL2
44 chronic nk-cell lymphocytosis 10.0 CD2 CD7
45 acquired immunodeficiency syndrome 10.0 CD34 IFNG IL2
46 pleurisy 10.0 IFNG IL2
47 exanthema subitum 10.0 CD7 IL2
48 follicular mucinosis 10.0 CD2 CD7
49 progressive multifocal leukoencephalopathy 9.9
50 aplastic anemia 9.9 CD34 IFNG 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 & Phenotypes for Immune Defect Due to Absence of Thymus

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

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 HP:0001508
2 emphysema 33 HP:0002097
3 lymphopenia 33 HP:0001888
4 chronic diarrhea 33 HP:0002028
5 recurrent pneumonia 33 HP:0006532
6 bronchiectasis 33 HP:0002110
7 hepatosplenomegaly 33 HP:0001433
8 abnormal t cell morphology 33 HP:0002843
9 metaphyseal dysostosis 33 HP:0005899
10 aplasia of the thymus 33 HP:0005359
11 recurrent bronchopulmonary infections 33 HP:0006538
12 eczematoid dermatitis 33 HP:0000976
13 pyoderma 33 HP:0000999
14 reduced delayed hypersensitivity 33 HP:0002972

Symptoms via clinical synopsis from OMIM:

58
Growth:
failure to thrive

Heme:
lymphopenia

Skel:
metaphyseal dysostosis

Immunology:
absent thymus
t-cell deficiency
impaired delayed hypersensitivity
poor skin graft rejection
normal humoral immunity
more
Pulmonary:
emphysema
bronchiectasis
chronic bronchopulmonary infection

G I:
chronic diarrhea
hepatosplenomegaly

Skin:
pyoderma
eczematoid rash

Misc:
recurrent pseudomonas and monilia infections
susceptibility to viral infections

Clinical features from OMIM:

242700

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.5 CD34 CD44 CD7 FN1 IFNG IL2
2 neoplasm MP:0002006 9.02 CD34 CD44 FN1 IFNG IL2

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:

42
Thymus, T Cells, Skin, Thyroid, Breast, Prostate, Myeloid

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 (Nezelof syndrome): a case report. ( 932589 )
1976
4
Thymic dysplasia with normal immunoglobulins (the Nezelof syndrome). (A case report). ( 1052394 )
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

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 cell surface GO:0009986 9.26 CD2 CD34 CD44 THY1
2 apical plasma membrane GO:0016324 8.92 CD34 CD44 FN1 THY1

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 leukocyte migration GO:0050900 9.46 CD2 CD34 CD44 FN1
2 natural killer cell activation GO:0030101 9.4 CD2 IL2
3 positive regulation of kinase activity GO:0033674 9.37 CD44 IL2
4 regulation of regulatory T cell differentiation GO:0045589 9.32 IFNG IL2
5 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.26 CD44 THY1
6 cell-cell adhesion GO:0098609 9.26 CD2 CD34 CD44 THY1
7 cell adhesion GO:0007155 9.1 CD2 CD34 CD44 FN1 IL2 THY1

Sources for Immune Defect Due to Absence of Thymus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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