Atypical Mycobacterial Pneumonia in 2 Siblings with a Novel Hypomorphic NEMO/IKBKG Mutation.

Autor:	Meric, Zeynep, Aydemir, Sezin, Baskan, Azer Kilic, Karaaslan, Betul Gemici, Demirkol, Yasemin Kendir, Kilinc Sakalli, Ayse Ayzit, Kiykim, Ayca, Cokugras, Haluk
Předmět:	MYCOBACTERIAL disease diagnosis NF-kappa B MYCOPLASMA pneumoniae infections IMMUNE system GENETIC mutation INFLAMMATION CELL survival EARLY diagnosis DISEASE susceptibility GENETIC testing SIGNAL peptides ECTODERMAL dysplasia
Zdroj:	Turkish Archives of Pediatrics; Nov2024, Vol. 59 Issue 6, p605-607, 3p
Abstrakt:	The article published in the Turkish Archives of Pediatrics discusses a case of atypical mycobacterial pneumonia in two siblings with a novel hypomorphic NEMO/IKBKG mutation. The NEMO protein plays a crucial role in immune response regulation, and mutations in the IKBKG gene can lead to impaired immunity and susceptibility to severe bacterial and mycobacterial infections. The study highlights the importance of early detection, genetic counseling, and ongoing treatment for children with such mutations to prevent severe infections and provide necessary support. [Extracted from the article]
Databáze:	Complementary Index
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