T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: TCL016 MIFTS: 25	T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy Categories: Genetic diseases, Rare diseases, Blood diseases, Immune diseases
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Immunodeficiency associated with other major defects

Immunodeficiency associated with other specified major defects

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

MeSH ⁴⁴ D000505 D007153 D009260

KEGG ³⁷ H01181

SNOMED-CT via HPO ⁶⁹ 258211005 278040002 56317004 more

UMLS ⁷³ C1866426

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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

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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

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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

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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

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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

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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

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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 )	Rota I.A....Dhalla F.	2017
2	[Post-thymus transplant vitiligo in a child with Foxn1 deficiency]. ( 22721479 )	Levy E....Lipsker D.	2012

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

Genes related to T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FOXN1	Forkhead Box N1	Protein Coding	1388.87	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	10206641 8911612 15180707 (more) 18339010 21507891

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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

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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.

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

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

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