Autosomal Recessive Inflammatory Skin Disease Caused by a Novel Biallelic Loss-of-Function Variant in CARD11.

Autor:	Nguyen, Amie, Lu, Henry Y., Bauman, Bradly M., Dabbah-Krancher, Gina, Zhang, Xijun, Sukumar, Gauthaman, Villar, Joaquin, Bosticardo, Marita, Samant, Shefali Anil, Maarup, Timothy James, Cheng, Jerry C., Kapoor, Neena, Cassarino, David S., Milner, Joshua D., Notarangelo, Luigi D., Church, Joseph A., Sheikh, Javed, Dalgard, Clifton L., Turvey, Stuart E., Snow, Andrew L.
Předmět:	SKIN diseases MONONUCLEAR leukocytes ATOPY MILK allergy LEUCOCYTES BLOOD cell count BONE marrow cells
Zdroj:	Journal of Clinical Immunology; May2023, Vol. 43 Issue 4, p709-713, 5p
Abstrakt:	To investigate whether a similar mechanism was in play in our patient, we conducted further whole genome sequencing (WGS) and deep RNA sequencing on patient T cells. These virus-specific T cell clones, unchecked by regulatory T cells, were then able to infiltrate organs and cause an OS phenotype. B cell phenotyping revealed normal naïve and total memory B cell numbers but impaired B cell class switching. While ERK activation was intact, NF- B pathway induction was completely abrogated in patient T cells versus healthy controls despite comparable CARD11 protein expression (Fig. [Extracted from the article]
Databáze:	Complementary Index
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