Split Immunological Reconstitution in a NEMO-Deficient Male with Incontinentia Pigmenti and Immunodeficiency
Author:
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy
Link
https://link.springer.com/content/pdf/10.1007/s10875-023-01543-2.pdf
Reference5 articles.
1. Pescatore A, Spinosa E, Casale C, Lioi MB, Ursini MV, Fusco F. Human genetic diseases linked to the absence of NEMO: an obligatory somatic mosaic disorder in male. Int J Mol Sci. 2022; 23:1179.
2. Mansour S, Woffendin H, Mitton S, Jeffery I, Jakins T, Kenwrick S, et al. Rapid publication - incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. Am J Med Genet. 2001;99:172–7.
3. Chang TT, Behshad R, Brodell RT, Gilliam AC. A male infant with anhidrotic ectodermal dysplasia/immunodeficiency accompanied by incontinentia pigmenti and a mutation in the NEMO pathway. J Am Acad Dermatol. 2008;58:316–20.
4. Fusco F, Bardaro T, Mercadante V, Miano MG, Falco G, Israel A, et al. Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappa B activation. Hum Mol Genet. 2004;13:1763–73.
5. Rechavi E, Lev A, Lee YN, Simon AJ, Yinon Y, Lipitz S, et al. Timely and spatially regulated maturation of B and T cell repertoire during human fetal development. Sci Transl Med. 2015;7:276ra25.
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