T-cell immunodeficiency, congenital alopecia and nail dystrophy , or TIDAND, is an autosomal recessive primary immunodeficiency associated with mutations in the FOXN1 gene and characterized by congenital thymic aplasia and severe T-cell immunodeficiency.
Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail DystrophyD81.4
DefinitionThis section has been translated automatically.
ManifestationThis section has been translated automatically.
Already at birth or shortly thereafter.
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Affected individuals are prone to recurrent infections, oral candidiasis, and failure to thrive.
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Immunological studies show a decreased number of T cells with a poor proliferative response to phytohaemagglutinin (PHA) and variable hypogammaglobulinemia. The phenotype is consistent with a T-/B+/NK+ form of severe combined immunodeficiency .
TherapyThis section has been translated automatically.
Patients with FOXN1 mutations do not respond well to hematopoietic stem cell transplantation because it is not curative. Thymus transplantation offers a potential cure (Chou et al. 2014).
LiteratureThis section has been translated automatically.
- Adriani M et al (2004) Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population. Ann Hum Genet 68: 265-268.
- Amorosi S et al (2008) FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus. Clin Genet 73: 380-384.
- Chou Jet al. (2014) A novel mutation in FOXN1 resulting in SCID: a case report and literature review. (Letter) Clin. Immun. 155: 30-32.
- Flanagan SP (1966) 'Nude,' a new hairless gene with pleiotropic effects in the mouse. Genet Res 8: 295-309.
- Radha Rama Devi A et al.(2017) FOXN1 Italian founder mutation in Indian family: implications in prenatal diagnosis. Genes 627: 222-225.