TIDTA
MCID: TCL025
MIFTS: 37

T-Cell Immunodeficiency with Thymic Aplasia (TIDTA)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for T-Cell Immunodeficiency with Thymic Aplasia

MalaCards integrated aliases for T-Cell Immunodeficiency with Thymic Aplasia:

Name: T-Cell Immunodeficiency with Thymic Aplasia 56
Nezelof Syndrome 56 12 74 52 58 15 32
T-Lymphocyte Deficiency 56 52 6
Thymic Aplasia 12 52 58
Immune Defect Due to Absence of Thymus 56 52
Thymic Dysplasia with Normal Immunoglobulins 12
Nezelof's Syndrome 12
Tidta 56

Characteristics:

Orphanet epidemiological data:

58
thymic aplasia
Inheritance: Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive
some x-linked reports


HPO:

31
t-cell immunodeficiency with thymic aplasia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:2012
OMIM 56 242700
ICD9CM 34 279.13
SNOMED-CT 67 55602000
ICD10 32 D81.4
ICD10 via Orphanet 33 D81.4
UMLS via Orphanet 72 C0152094 C0685894
Orphanet 58 ORPHA83471
MedGen 41 C2752083
UMLS 71 C0152094

Summaries for T-Cell Immunodeficiency with Thymic Aplasia

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 83471 Definition A rare primary immunodeficiency with autosomal or X-linked recessive inheritance, characterized by atrophy of the thymus in the absence of other congenital abnormalities, with profound T-cell deficiency, while serum immunoglobulin levels are normal or increased. Patients present with chronic or recurrent infections in infancy including candidiasis, skin, pulmonary and urinary tract infections, chronic diarrhea, and failure to thrive. Visit the Orphanet disease page for more resources.

MalaCards based summary : T-Cell Immunodeficiency with Thymic Aplasia, also known as nezelof syndrome, is related to t cell deficiency and t-cell immunodeficiency, congenital alopecia, and nail dystrophy. An important gene associated with T-Cell Immunodeficiency with Thymic Aplasia is FOXN1 (Forkhead Box N1). Affiliated tissues include thymus, t cells and skin, and related phenotypes are failure to thrive and emphysema

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

OMIM : 56 T-cell immunodeficiency with thymic aplasia (TIDTA) is an autosomal recessive disorder that is often detected at birth through newborn SCID screening with the finding of decreased T-cell receptor excision circles (TRECs). Affected individuals have selective hypo- or aplasia of the thymus, which results in T-cell immunodeficiency due to impaired T-cell development and increased susceptibility to viral infections. The phenotype is similar to T-/B+/NK+ SCID. Some patients may die in childhood; thymus transplantation may be curative (summary by Du et al., 2019). (242700)

Wikipedia : 74 Nezelof syndrome is an autosomal recessive congenital immunodeficiency condition due to underdevelopment... more...

Related Diseases for T-Cell Immunodeficiency with Thymic Aplasia

Diseases related to T-Cell Immunodeficiency with Thymic Aplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 t cell deficiency 32.6 FOXN1 CD4
2 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 32.4 KRT71 FOXN1
3 thymic dysplasia 31.0 PRODH FOXN1
4 digeorge syndrome 27.1 ZDHHC8 TBX1 SNAP29 PRODH FOXN1 DGCR5
5 thymic aplasia with fetal death 12.4
6 immunodeficiency due to absence of thymus 10.3
7 combined t and b cell immunodeficiency 10.3
8 hyperprolinemia, type i 10.3 PRODH DGCR5
9 hyperprolinemia 10.3 PRODH DGCR5
10 chromosome 22q11.2 duplication syndrome 10.2 TBX1 PRODH DGCR5
11 chromosomal duplication syndrome 10.2 TBX1 PRODH DGCR5
12 chromosomal disease 10.1 TBX1 PRODH DGCR5
13 diarrhea 10.1
14 agammaglobulinemia 10.1
15 lymphopenia 10.1
16 patent ductus arteriosus 1 10.1 TBX1 PRODH CHD7
17 neutropenia 10.1
18 bronchiolitis 10.1
19 bronchiectasis 10.1
20 atrial heart septal defect 10.1 TBX1 PRODH CHD7
21 chromosome 6q24-q25 deletion syndrome 10.1 ZDHHC8 PRODH
22 monkeypox 10.0 PRODH CD4
23 subacute lymphocytic thyroiditis 10.0 CHD7 CD4
24 heart septal defect 10.0 TBX1 PRODH DGCR5 CHD7
25 graves' disease 10.0
26 progressive multifocal leukoencephalopathy 10.0
27 orofacial cleft 10.0 TBX1 PRODH DGCR5 CHD7
28 alopecia universalis congenita 9.9 FOXN1 CD4
29 intestinal perforation 9.9 PRODH CD4
30 split-hand/foot malformation 1 9.9
31 graft-versus-host disease 9.9
32 hepatorenal syndrome 9.9
33 ectodermal dysplasia 9.9
34 epidermolysis bullosa 9.9
35 measles 9.9
36 isolated split hand-split foot malformation 9.9
37 noonan syndrome 4 9.8 PRODH CD4
38 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 9.8 SNAP29 PRODH
39 velocardiofacial syndrome 9.8 ZDHHC8 TBX1 PRODH DGCR5
40 hair disease 9.8 KRT71 FOXN1 CD4
41 autoimmune disease 9.8
42 ovarian cancer 9.8
43 sarcoidosis 1 9.8
44 scleroderma, familial progressive 9.8
45 down syndrome 9.8
46 ataxia-telangiectasia 9.8
47 immune deficiency disease 9.8
48 inosine phosphorylase deficiency, immune defect due to 9.8
49 immunodeficiency 48 9.8
50 ataxia and polyneuropathy, adult-onset 9.8

Graphical network of the top 20 diseases related to T-Cell Immunodeficiency with Thymic Aplasia:



Diseases related to T-Cell Immunodeficiency with Thymic Aplasia

Symptoms & Phenotypes for T-Cell Immunodeficiency with Thymic Aplasia

Human phenotypes related to T-Cell Immunodeficiency with Thymic Aplasia:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 emphysema 31 HP:0002097
3 lymphopenia 31 HP:0001888
4 chronic diarrhea 31 HP:0002028
5 recurrent pneumonia 31 HP:0006532
6 hepatosplenomegaly 31 HP:0001433
7 bronchiectasis 31 HP:0002110
8 abnormal t cell morphology 31 HP:0002843
9 eczematoid dermatitis 31 HP:0000976
10 recurrent bronchopulmonary infections 31 HP:0006538
11 aplasia of the thymus 31 HP:0005359
12 metaphyseal dysostosis 31 HP:0005899
13 pyoderma 31 HP:0000999
14 reduced delayed hypersensitivity 31 HP:0002972

Symptoms via clinical synopsis from OMIM:

56
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

Drugs & Therapeutics for T-Cell Immunodeficiency with Thymic Aplasia

Search Clinical Trials , NIH Clinical Center for T-Cell Immunodeficiency with Thymic Aplasia

Genetic Tests for T-Cell Immunodeficiency with Thymic Aplasia

Anatomical Context for T-Cell Immunodeficiency with Thymic Aplasia

MalaCards organs/tissues related to T-Cell Immunodeficiency with Thymic Aplasia:

40
Thymus, T Cells, Skin

Publications for T-Cell Immunodeficiency with Thymic Aplasia

Articles related to T-Cell Immunodeficiency with Thymic Aplasia:

(show all 26)
# Title Authors PMID Year
1
FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans. 56
31566583 2019
2
Hemagglutinin activation of pathogenic avian influenza viruses of serotype H7 requires the protease recognition motif R-X-K/R-R. 6
1566583 1992
3
The syndrome of cellular immunodeficiency with immunoglobulins. 56
4810725 1974
4
Familial lymphopenia with T lymphocyte defect. 56
4272636 1974
5
Congenital aplasia of the thymus gland (DiGeorge's syndrome). 56
4177112 1968
6
Thymic aplasia with lymphopenia, plasma cells, and normal immunoglobulins. Relation to measles virus infection. 56
4166528 1967
7
Thymic dysplasia. A separable entity from "swiss agammaglobulinemia". 56
5338315 1967
8
Dissociation of delayed-hypersensitivy and antibody-synthesising capacities in man. Report of two sibships with thymic dysplasia, lymphoid tissue depletion, and normal immunoglobulins. 56
4161068 1966
9
Presence of plasma cells and gamma-1-M-globulin synthesis in a patient with thymic alymphoplasia. 56
4159742 1966
10
[HEREDITARY THYMIC HYPOPLASIA: ITS PLACE AND RESPONSIBILITY IN A CASE OF LYMPHOCYTIC, NORMOPLASMOCYTIC AND NORMOGLOBULINEMIC APLASIA IN AN INFANT]. 56
14195287 1964
11
PNEUMOCYSTIS CARINII PENUMONIA AND PROGRESSIVE VACCINIA IN SIBLINGS. 56
14160084 1964
12
Abnormal in vitro thymocyte differentiation in a patient with severe combined immunodeficiency-Nezelof's syndrome. 61
8734358 1996
13
Atypical manifestations of tuberculous meningitis. 61
8467825 1993
14
[Nezelof syndrome in a newborn infant]. 61
1614792 1992
15
Demonstration of abnormalities in expression of thymic epithelial surface antigens in severe cellular immunodeficiency diseases. 61
6600476 1983
16
T system immunodeficiencies in infancy and childhood. 61
6456453 1981
17
Nezelof syndrome. 61
7251125 1980
18
Report of a case of Nezelof syndrome. 61
7449523 1980
19
[Nezelof syndrome with secondary immunodeficiency (author's transl)]. 61
842973 1977
20
Antibodies to nucleic acids in congenital immune deficiency states. 61
1085351 1976
21
Thymic dysplasia with normal immunoglobulins (Nezelof syndrome): a case report. 61
932589 1976
22
Thymic dysplasia with normal immunoglobulins (the Nezelof syndrome). (A case report). 61
1052394 1976
23
Serum IgD and IgE concentrations in immunodeficiency diseases. 61
803218 1975
24
[Thymic alymphoplasia without agammaglobulinemia. Nezelof syndrome]. 61
4364150 1974
25
Effect of transfer factor on lymphocyte function in anergic patients. 61
5080419 1972
26
The human rosette-forming cell as a marker of a population of thymus-derived cells. 61
4115705 1972

Variations for T-Cell Immunodeficiency with Thymic Aplasia

ClinVar genetic disease variations for T-Cell Immunodeficiency with Thymic Aplasia:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FOXN1 NM_003593.2(FOXN1):c.933_936dup (p.Asp313fs)duplication Pathogenic 827574 17:26861352-26861353 17:28534334-28534335
2 FOXN1 NM_003593.2(FOXN1):c.1089_1103del (p.Trp363_Pro368delinsCys)deletion Pathogenic 827575 17:26861510-26861524 17:28534492-28534506

Expression for T-Cell Immunodeficiency with Thymic Aplasia

Search GEO for disease gene expression data for T-Cell Immunodeficiency with Thymic Aplasia.

Pathways for T-Cell Immunodeficiency with Thymic Aplasia

GO Terms for T-Cell Immunodeficiency with Thymic Aplasia

Biological processes related to T-Cell Immunodeficiency with Thymic Aplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood vessel morphogenesis GO:0048514 9.32 TBX1 FOXN1
2 artery morphogenesis GO:0048844 9.26 TBX1 CHD7
3 aorta morphogenesis GO:0035909 9.16 TBX1 CHD7
4 semicircular canal morphogenesis GO:0048752 8.96 TBX1 CHD7
5 ear morphogenesis GO:0042471 8.62 TBX1 CHD7

Sources for T-Cell Immunodeficiency with Thymic Aplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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