MCID: TCL016
MIFTS: 25

T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

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

Aliases & Classifications for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

MalaCards integrated aliases for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy:

Name: T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy 57 12 25 75 13 15
T-Cell Immunodeficiency, Congenital Alopecia and Nail Dystrophy 53 29 6 40 73
Winged Helix Deficiency 12 53 25 59 75
Alymphoid Cystic Thymic Dysgenesis 12 53 25 59
Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy Syndrome 12 53 59
Pignata Guarino Syndrome 53 25 75
Congenital Alopecia and Nail Dystrophy Associated with Severe Functional T-Cell Immunodeficiency 53 25
Foxn1 Deficiency 53 59
Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy 75
T-Cell Immunodeficiency Congenital Alopecia and Nail Dystrophy 37
Tidand 75

Characteristics:

Orphanet epidemiological data:

59
alymphoid cystic thymic dysgenesis
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
t-cell immunodeficiency, congenital alopecia, and nail dystrophy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 601705
Disease Ontology 12 DOID:0060769
ICD10 33 D82.8
Orphanet 59 ORPHA169095
ICD10 via Orphanet 34 D82.8
MedGen 42 C1866426
KEGG 37 H01181
UMLS 73 C1866426

Summaries for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

Genetics Home Reference : 25 T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a type of severe combined immunodeficiency (SCID), which is a group of disorders characterized by an almost total lack of immune protection from foreign invaders such as bacteria and viruses. People with this form of SCID are missing functional immune cells called T cells, which normally recognize and attack foreign invaders to prevent infection. Without functional T cells, affected individuals develop repeated and persistent infections starting early in life. The infections result in slow growth and can be life-threatening; without effective treatment, most affected individuals live only into infancy or early childhood.

MalaCards based summary : T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy, also known as t-cell immunodeficiency, congenital alopecia and nail dystrophy, is related to combined immunodeficiency, x-linked and severe combined immunodeficiency. An important gene associated with T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy is FOXN1 (Forkhead Box N1). Affiliated tissues include t cells and thymus, and related phenotypes are nail pits and ridged nail

Disease Ontology : 12 A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.

UniProtKB/Swiss-Prot : 75 T-cell immunodeficiency, congenital alopecia, and nail dystrophy: A disorder characterized by the association of congenital alopecia, severe T-cell immunodeficiency, and ridging and pitting of all nails.

Description from OMIM: 601705

Related Diseases for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

Diseases related to T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 combined immunodeficiency, x-linked 9.9
2 severe combined immunodeficiency 9.9

Symptoms & Phenotypes for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

Symptoms via clinical synopsis from OMIM:

57
Hair:
congenital alopecia

Nails:
ridging and pitting of all nails

Immunol:
severe t-cell immunodeficiency

Lab:
decreased mature t lymphocytes
decreased helper t cells
normal number of suppressor/cytotoxic t cells
decreased proliferative response to mitogen stimulation
normal proliferative response to phorbol myristate acetate and ionomycin


Clinical features from OMIM:

601705

Human phenotypes related to T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nail pits 59 32 hallmark (90%) Very frequent (99-80%) HP:0001803
2 ridged nail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001807
3 immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002721
4 decrease in t cell count 59 32 hallmark (90%) Very frequent (99-80%) HP:0005403
5 congenital alopecia totalis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005597
6 alopecia 32 HP:0001596
7 severe t-cell immunodeficiency 32 HP:0005352
8 decreased proportion circulating t-helper cells 32 HP:0008165
9 nail dystrophy 32 HP:0008404

Drugs & Therapeutics for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

Search Clinical Trials , NIH Clinical Center for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

Genetic Tests for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

Genetic tests related to T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy:

# Genetic test Affiliating Genes
1 T-Cell Immunodeficiency, Congenital Alopecia and Nail Dystrophy 29 FOXN1

Anatomical Context for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

MalaCards organs/tissues related to T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy:

41
T Cells, Thymus

Publications for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

Articles related to T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy:

# Title Authors Year
1
FOXN1 deficient nude severe combined immunodeficiency. ( 28077132 )
2017
2
[Post-thymus transplant vitiligo in a child with Foxn1 deficiency]. ( 22721479 )
2012

Variations for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

ClinVar genetic disease variations for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy:

6
(show top 50) (show all 116)
# Gene Variation Type Significance SNP ID Assembly Location
1 FOXN1 NM_003593.2(FOXN1): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs104894562 GRCh37 Chromosome 17, 26856175: 26856175
2 FOXN1 NM_003593.2(FOXN1): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs104894562 GRCh38 Chromosome 17, 28529157: 28529157
3 FOXN1 NM_003593.2(FOXN1): c.1195_1225del31 (p.Cys399Profs) deletion Likely pathogenic rs886043619 GRCh37 Chromosome 17, 26861784: 26861814
4 FOXN1 NM_003593.2(FOXN1): c.1195_1225del31 (p.Cys399Profs) deletion Likely pathogenic rs886043619 GRCh38 Chromosome 17, 28534766: 28534796
5 FOXN1 NM_003593.2(FOXN1): c.205C> T (p.Arg69Cys) single nucleotide variant Benign rs2071587 GRCh37 Chromosome 17, 26851602: 26851602
6 FOXN1 NM_003593.2(FOXN1): c.205C> T (p.Arg69Cys) single nucleotide variant Benign rs2071587 GRCh38 Chromosome 17, 28524584: 28524584
7 FOXN1 NM_003593.2(FOXN1): c.279C> G (p.Leu93=) single nucleotide variant Uncertain significance rs374082998 GRCh37 Chromosome 17, 26851676: 26851676
8 FOXN1 NM_003593.2(FOXN1): c.279C> G (p.Leu93=) single nucleotide variant Uncertain significance rs374082998 GRCh38 Chromosome 17, 28524658: 28524658
9 FOXN1 NM_003593.2(FOXN1): c.589-12C> A single nucleotide variant Uncertain significance rs185748978 GRCh38 Chromosome 17, 28527239: 28527239
10 FOXN1 NM_003593.2(FOXN1): c.589-12C> A single nucleotide variant Uncertain significance rs185748978 GRCh37 Chromosome 17, 26854257: 26854257
11 FOXN1 NM_003593.2(FOXN1): c.1184C> T (p.Pro395Leu) single nucleotide variant Uncertain significance rs199739943 GRCh38 Chromosome 17, 28534755: 28534755
12 FOXN1 NM_003593.2(FOXN1): c.1184C> T (p.Pro395Leu) single nucleotide variant Uncertain significance rs199739943 GRCh37 Chromosome 17, 26861773: 26861773
13 FOXN1 NM_003593.2(FOXN1): c.*206G> A single nucleotide variant Uncertain significance rs774039480 GRCh38 Chromosome 17, 28537642: 28537642
14 FOXN1 NM_003593.2(FOXN1): c.*206G> A single nucleotide variant Uncertain significance rs774039480 GRCh37 Chromosome 17, 26864660: 26864660
15 FOXN1 NM_003593.2(FOXN1): c.*496C> T single nucleotide variant Uncertain significance rs886052761 GRCh38 Chromosome 17, 28537932: 28537932
16 FOXN1 NM_003593.2(FOXN1): c.*496C> T single nucleotide variant Uncertain significance rs886052761 GRCh37 Chromosome 17, 26864950: 26864950
17 FOXN1 NM_003593.2(FOXN1): c.159C> T (p.Ser53=) single nucleotide variant Uncertain significance rs368024968 GRCh37 Chromosome 17, 26851556: 26851556
18 FOXN1 NM_003593.2(FOXN1): c.159C> T (p.Ser53=) single nucleotide variant Uncertain significance rs368024968 GRCh38 Chromosome 17, 28524538: 28524538
19 FOXN1 NM_003593.2(FOXN1): c.546C> T (p.Asn182=) single nucleotide variant Conflicting interpretations of pathogenicity rs62640040 GRCh38 Chromosome 17, 28524925: 28524925
20 FOXN1 NM_003593.2(FOXN1): c.546C> T (p.Asn182=) single nucleotide variant Conflicting interpretations of pathogenicity rs62640040 GRCh37 Chromosome 17, 26851943: 26851943
21 FOXN1 NM_003593.2(FOXN1): c.709G> A (p.Gly237Ser) single nucleotide variant Uncertain significance rs745321270 GRCh38 Chromosome 17, 28529103: 28529103
22 FOXN1 NM_003593.2(FOXN1): c.709G> A (p.Gly237Ser) single nucleotide variant Uncertain significance rs745321270 GRCh37 Chromosome 17, 26856121: 26856121
23 FOXN1 NM_003593.2(FOXN1): c.714T> C (p.Gly238=) single nucleotide variant Benign/Likely benign rs35240903 GRCh38 Chromosome 17, 28529108: 28529108
24 FOXN1 NM_003593.2(FOXN1): c.714T> C (p.Gly238=) single nucleotide variant Benign/Likely benign rs35240903 GRCh37 Chromosome 17, 26856126: 26856126
25 FOXN1 NM_003593.2(FOXN1): c.1135+8C> T single nucleotide variant Benign rs2286521 GRCh38 Chromosome 17, 28534546: 28534546
26 FOXN1 NM_003593.2(FOXN1): c.1135+8C> T single nucleotide variant Benign rs2286521 GRCh37 Chromosome 17, 26861564: 26861564
27 FOXN1 NM_003593.2(FOXN1): c.1657A> G (p.Ser553Gly) single nucleotide variant Uncertain significance rs137872361 GRCh38 Chromosome 17, 28537146: 28537146
28 FOXN1 NM_003593.2(FOXN1): c.1657A> G (p.Ser553Gly) single nucleotide variant Uncertain significance rs137872361 GRCh37 Chromosome 17, 26864164: 26864164
29 FOXN1 NM_003593.2(FOXN1): c.1795G> C (p.Ala599Pro) single nucleotide variant Benign rs532648 GRCh38 Chromosome 17, 28537284: 28537284
30 FOXN1 NM_003593.2(FOXN1): c.1795G> C (p.Ala599Pro) single nucleotide variant Benign rs532648 GRCh37 Chromosome 17, 26864302: 26864302
31 FOXN1 NM_003593.2(FOXN1): c.*254G> A single nucleotide variant Benign rs3744635 GRCh37 Chromosome 17, 26864708: 26864708
32 FOXN1 NM_003593.2(FOXN1): c.*254G> A single nucleotide variant Benign rs3744635 GRCh38 Chromosome 17, 28537690: 28537690
33 FOXN1 NM_003593.2(FOXN1): c.*280C> G single nucleotide variant Uncertain significance rs532847274 GRCh37 Chromosome 17, 26864734: 26864734
34 FOXN1 NM_003593.2(FOXN1): c.*280C> G single nucleotide variant Uncertain significance rs532847274 GRCh38 Chromosome 17, 28537716: 28537716
35 FOXN1 NM_003593.2(FOXN1): c.*318A> G single nucleotide variant Uncertain significance rs886052759 GRCh38 Chromosome 17, 28537754: 28537754
36 FOXN1 NM_003593.2(FOXN1): c.*318A> G single nucleotide variant Uncertain significance rs886052759 GRCh37 Chromosome 17, 26864772: 26864772
37 FOXN1 NM_003593.2(FOXN1): c.*461C> T single nucleotide variant Uncertain significance rs886052760 GRCh38 Chromosome 17, 28537897: 28537897
38 FOXN1 NM_003593.2(FOXN1): c.*461C> T single nucleotide variant Uncertain significance rs886052760 GRCh37 Chromosome 17, 26864915: 26864915
39 FOXN1 NM_003593.2(FOXN1): c.*622C> G single nucleotide variant Uncertain significance rs886052763 GRCh38 Chromosome 17, 28538058: 28538058
40 FOXN1 NM_003593.2(FOXN1): c.*622C> G single nucleotide variant Uncertain significance rs886052763 GRCh37 Chromosome 17, 26865076: 26865076
41 FOXN1 NM_003593.2(FOXN1): c.497C> T (p.Ala166Val) single nucleotide variant Uncertain significance rs367793349 GRCh38 Chromosome 17, 28524876: 28524876
42 FOXN1 NM_003593.2(FOXN1): c.497C> T (p.Ala166Val) single nucleotide variant Uncertain significance rs367793349 GRCh37 Chromosome 17, 26851894: 26851894
43 FOXN1 NM_003593.2(FOXN1): c.539G> C (p.Trp180Ser) single nucleotide variant Uncertain significance rs765090704 GRCh38 Chromosome 17, 28524918: 28524918
44 FOXN1 NM_003593.2(FOXN1): c.539G> C (p.Trp180Ser) single nucleotide variant Uncertain significance rs765090704 GRCh37 Chromosome 17, 26851936: 26851936
45 FOXN1 NM_003593.2(FOXN1): c.611C> T (p.Pro204Leu) single nucleotide variant Uncertain significance rs886052757 GRCh38 Chromosome 17, 28527273: 28527273
46 FOXN1 NM_003593.2(FOXN1): c.611C> T (p.Pro204Leu) single nucleotide variant Uncertain significance rs886052757 GRCh37 Chromosome 17, 26854291: 26854291
47 FOXN1 NM_003593.2(FOXN1): c.1443G> T (p.Leu481=) single nucleotide variant Uncertain significance rs548817079 GRCh38 Chromosome 17, 28535014: 28535014
48 FOXN1 NM_003593.2(FOXN1): c.1443G> T (p.Leu481=) single nucleotide variant Uncertain significance rs548817079 GRCh37 Chromosome 17, 26862032: 26862032
49 FOXN1 NM_003593.2(FOXN1): c.1556T> A (p.Leu519Gln) single nucleotide variant Uncertain significance rs34814444 GRCh38 Chromosome 17, 28535127: 28535127
50 FOXN1 NM_003593.2(FOXN1): c.1556T> A (p.Leu519Gln) single nucleotide variant Uncertain significance rs34814444 GRCh37 Chromosome 17, 26862145: 26862145

Expression for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

Search GEO for disease gene expression data for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy.

Pathways for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

GO Terms for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

Sources for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

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
Content
Loading form....