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TIDAND
MCID: TCL016
MIFTS: 44
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T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy (TIDAND)
Categories:
Blood diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Skin 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:
Characteristics:Orphanet epidemiological data:58
severe combined immunodeficiency due to foxn1 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; HPO:31
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 Neuronal diseases Skin diseases
ICD10:
32
33
Orphanet: 58
Rare immunological diseases |
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MedlinePlus Genetics :
43
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.T-cell immunodeficiency, congenital alopecia, and nail dystrophy also affects growth of the hair and nails. Congenital alopecia refers to an absence of hair that is apparent from birth. Affected individuals have no scalp hair, eyebrows, or eyelashes. Nail dystrophy is a general term that describes malformed fingernails and toenails; in this condition, the nails are often ridged, pitted, or abnormally curved.Researchers have described abnormalities of the brain and spinal cord (central nervous system) in at least two cases of this condition. However, it is not yet known whether central nervous system abnormalities are a common feature of T-cell immunodeficiency, congenital alopecia, and nail dystrophy.
MalaCards based summary : T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy, also known as winged helix deficiency, is related to immune deficiency disease and alopecia, congenital. An important gene associated with T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy is FOXN1 (Forkhead Box N1), and among its related pathways/superpathways is Keratinization. Affiliated tissues include t cells, thymus and spinal cord, and related phenotypes are immunodeficiency 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. GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 169095 Definition A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T- cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive. OMIM® : 57 T-cell immunodeficiency, congenital alopecia, and nail dystrophy (TIDAND) is an autosomal recessive primary immunodeficiency characterized by congenital thymic aplasia and severe T-cell immunodeficiency apparent at birth or soon thereafter. Affected individuals tend to have recurrent infections, oral candidiasis, and failure to thrive. Immunologic investigations show decreased numbers of T cells with poor proliferative response to phytohemagglutinin (PHA) and variable hypogammaglobulinemia. The phenotype is consistent with a T-/B+/NK+ form of severe combined immunodeficiency (SCID; see, e.g., 102700). Patients with FOXN1 mutations do not respond well to hematopoietic stem cell transplantation, as it is not curative; thymic transplantation offers a potential cure (Chou et al., 2014). (601705) (Updated 20-May-2021) KEGG : 36 T-cell immunodeficiency congenital alopecia and nail dystrophy (TIDAND) is a severe combined immunodeficiency (SCID) syndrome caused by a mutation in FOXN1 gene encoding the forkhead/winged helix (WHN) FOXN1 transcription factor selectively expressed in thymic epithelia and skin. SCIDs are disorders of both cell-mediated and humoral immunity, characterized by high susceptibility to develop severe and sometimes fatal infections. TIDAND is the only human SCID caused by an intrinsic abnormality of the epithelial component of the thymus. The disease is always associated with a profound T-cell defect. UniProtKB/Swiss-Prot : 72 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. |
Human phenotypes related to T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy:58 31 (show all 10)
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:601705 (Updated 20-May-2021)GenomeRNAi Phenotypes related to T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy according to GeneCards Suite gene sharing:26 (show all 12)
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MalaCards organs/tissues related to T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy:40
T Cells,
Thymus,
Spinal Cord,
Brain
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Articles related to T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy:(show all 16)
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Genes related to T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy:6 (show top 50) (show all 205)
UniProtKB/Swiss-Prot genetic disease variations for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy:72
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Search
GEO
for disease gene expression data for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy.
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Cellular components related to T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy according to GeneCards Suite gene sharing:
Biological processes related to T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy according to GeneCards Suite gene sharing:
Molecular functions related to T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy according to GeneCards Suite gene sharing:
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