Alymphoid Cystic Thymic Dysgenesis

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Tang, P. Alymphoid Cystic Thymic Dysgenesis. Encyclopedia. Available online: https://encyclopedia.pub/entry/6066 (accessed on 20 September 2026).

Tang P. Alymphoid Cystic Thymic Dysgenesis. Encyclopedia. Available at: https://encyclopedia.pub/entry/6066. Accessed September 20, 2026.

Tang, Peter. "Alymphoid Cystic Thymic Dysgenesis" Encyclopedia, https://encyclopedia.pub/entry/6066 (accessed September 20, 2026).

Tang, P. (2021, January 04). Alymphoid Cystic Thymic Dysgenesis. In Encyclopedia. https://encyclopedia.pub/entry/6066

Tang, Peter. "Alymphoid Cystic Thymic Dysgenesis." Encyclopedia. Web. 04 January, 2021.

Alymphoid Cystic Thymic Dysgenesis

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy

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.

genetic conditions

References

Adriani M, Martinez-Mir A, Fusco F, Busiello R, Frank J, Telese S, MatrecanoE, Ursini MV, Christiano AM, Pignata C. Ancestral founder mutation of the nude(FOXN1) gene in congenital severe combined immunodeficiency associated withalopecia in southern Italy population. Ann Hum Genet. 2004 May;68(Pt 3):265-8.
Amorosi S, D'Armiento M, Calcagno G, Russo I, Adriani M, Christiano AM, WeinerL, Brissette JL, Pignata C. FOXN1 homozygous mutation associated with anencephalyand severe neural tube defect in human athymic Nude/SCID fetus. Clin Genet. 2008 Apr;73(4):380-4. doi: 10.1111/j.1399-0004.2008.00977.x.
Amorosi S, Vigliano I, Del Giudice E, Panico L, Maruotti GM, Fusco A,Quarantelli M, Ciccone C, Ursini MV, Martinelli P, Pignata C. Brain alteration ina Nude/SCID fetus carrying FOXN1 homozygous mutation. J Neurol Sci. 2010 Nov15;298(1-2):121-3. doi: 10.1016/j.jns.2010.08.066.
Frank J, Pignata C, Panteleyev AA, Prowse DM, Baden H, Weiner L, GaetanielloL, Ahmad W, Pozzi N, Cserhalmi-Friedman PB, Aita VM, Uyttendaele H, Gordon D, OttJ, Brissette JL, Christiano AM. Exposing the human nude phenotype. Nature. 1999Apr 8;398(6727):473-4.
Pignata C, Fiore M, Guzzetta V, Castaldo A, Sebastio G, Porta F, Guarino A.Congenital Alopecia and nail dystrophy associated with severe functional T-cellimmunodeficiency in two sibs. Am J Med Genet. 1996 Oct 16;65(2):167-70.
Pignata C, Fusco A, Amorosi S. Human clinical phenotype associated with FOXN1 mutations. Adv Exp Med Biol. 2009;665:195-206. Review.
Pignata C. A lesson for unraveling complex aspects of novel immunodeficienciesfrom the human equivalent of the nude/SCID phenotype. J Hematother Stem Cell Res.2002 Apr;11(2):409-14. Review.
Vigliano I, Gorrese M, Fusco A, Vitiello L, Amorosi S, Panico L, Ursini MV,Calcagno G, Racioppi L, Del Vecchio L, Pignata C. FOXN1 mutation abrogatesprenatal T-cell development in humans. J Med Genet. 2011 Jun;48(6):413-6. doi:10.1136/jmg.2011.089532.

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Subjects: Genetics & Heredity

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Update Date: 04 Jan 2021

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