EDA-ID

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1		Peter Tang	+ 762 word(s)	762	2020-12-15 07:15:53

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Tang, P. EDA-ID. Encyclopedia. Available online: https://encyclopedia.pub/entry/6017 (accessed on 20 September 2026).

Tang P. EDA-ID. Encyclopedia. Available at: https://encyclopedia.pub/entry/6017. Accessed September 20, 2026.

Tang, Peter. "EDA-ID" Encyclopedia, https://encyclopedia.pub/entry/6017 (accessed September 20, 2026).

Tang, P. (2021, January 04). EDA-ID. In Encyclopedia. https://encyclopedia.pub/entry/6017

Tang, Peter. "EDA-ID." Encyclopedia. Web. 04 January, 2021.

EDA-ID

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/anhidrotic-ectodermal-dysplasia-with-immune-deficiency

Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a form of ectodermal dysplasia, which is a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands. In addition, immune system function is reduced in people with EDA-ID. The signs and symptoms of EDA-ID are evident soon after birth, and due to the severity of the immune system problems, most people with this condition survive only into childhood.

genetic conditions

References

Hubeau M, Ngadjeua F, Puel A, Israel L, Feinberg J, Chrabieh M, Belani K,Bodemer C, Fabre I, Plebani A, Boisson-Dupuis S, Picard C, Fischer A, Israel A,Abel L, Veron M, Casanova JL, Agou F, Bustamante J. New mechanism of X-linkedanhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitinbinding despite normal folding of NEMO protein. Blood. 2011 Jul 28;118(4):926-35.doi: 10.1182/blood-2010-10-315234.
Kawai T, Nishikomori R, Heike T. Diagnosis and treatment in anhidroticectodermal dysplasia with immunodeficiency. Allergol Int. 2012 Jun;61(2):207-17. doi: 10.2332/allergolint.12-RAI-0446. Review.
Mancini AJ, Lawley LP, Uzel G. X-linked ectodermal dysplasia withimmunodeficiency caused by NEMO mutation: early recognition and diagnosis. ArchDermatol. 2008 Mar;144(3):342-6. doi: 10.1001/archderm.144.3.342.
Mooster JL, Cancrini C, Simonetti A, Rossi P, Di Matteo G, Romiti ML, DiCesare S, Notarangelo L, Geha RS, McDonald DR. Immune deficiency caused byimpaired expression of nuclear factor-kappaB essential modifier (NEMO) because ofa mutation in the 5' untranslated region of the NEMO gene. J Allergy ClinImmunol. 2010 Jul;126(1):127-32.e7. doi: 10.1016/j.jaci.2010.04.026.
Temmerman ST, Ma CA, Zhao Y, Keenan J, Aksentijevich I, Fessler M, Brown MR,Knutsen A, Shapiro R, Jain A. Defective nuclear IKKα function in patients withectodermal dysplasia with immune deficiency. J Clin Invest. 2012Jan;122(1):315-26. doi: 10.1172/JCI42534.

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Subjects: Genetics & Heredity

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Update Date: 04 Jan 2021

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