MCID: IMM015
MIFTS: 35

Immune Defect Due to Absence of Thymus

Categories: Blood 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
T-Lymphocyte Deficiency 58 12 54 74
Thymic Aplasia 58 54 60 45
T-Lymphocyte Immunodeficiency 12 74
T Lymphocyte Deficiency 12 15
Nezelof's Syndrome 12 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 DOID:613
OMIM 58 242700
ICD9CM 36 279.13
MeSH 45 C536288
NCIt 51 C27145
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 T cell deficiency that is characterized by decreased functioning of the T lymphocytes, which are drivers of cell-mediated immunity, resulting in increased susceptibility to intracellular bacterial, viral, and fungal infections, and has material basis in a primary immunodeficiency or secondary to chronic infection, illness, or drugs.

MalaCards based summary : Immune Defect Due to Absence of Thymus, also known as nezelof syndrome, is related to t cell deficiency and thymic aplasia with fetal death. An important gene associated with Immune Defect Due to Absence of Thymus is CD2 (CD2 Molecule), and among its related pathways/superpathways are Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers and Microglia Activation During Neuroinflammation: Microglia Polarization. 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

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 aplasia of the thymus 33 HP:0005359
9 recurrent bronchopulmonary infections 33 HP:0006538
10 eczematoid dermatitis 33 HP:0000976
11 pyoderma 33 HP:0000999
12 metaphyseal dysostosis 33 HP:0005899
13 reduced delayed hypersensitivity 33 HP:0002972
14 abnormal t cell morphology 33 HP:0002843

Symptoms via clinical synopsis from OMIM:

58
Growth:
failure to thrive

Heme:
lymphopenia

Skin:
pyoderma
eczematoid rash

Skel:
metaphyseal dysostosis

Pulmonary:
emphysema
bronchiectasis
chronic bronchopulmonary infection

G I:
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

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

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:

# Super pathways Score Top Affiliating Genes
1 11.02 CD2 IL2
2 10.47 A2M IL2
3 10.39 CD2 IL2

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 GO:0005623 8.62 FTH1 IL2

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 natural killer cell activation GO:0030101 8.62 CD2 IL2

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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