Novel hypomorphic CYBB variant causing chronic granulomatous disease with incomplete penetrance.

Autor:	Cuesta‐Martín de la Cámara, Ricardo, Bravo‐García Morato, María, Cámara‐Hijón, Carmen, Magallares, Lorena, Martínez‐Ojinaga, Eva, González‐Torbay, Andrea, Miguel‐Berenguel, Laura, del Rosal, Teresa, Sarría‐Osés, Jesús, Rodríguez‐Pena, Rebeca
Předmět:	INFLAMMATORY bowel diseases PRIMARY immunodeficiency diseases CHRONIC granulomatous disease NICOTINAMIDE adenine dinucleotide phosphate INFORMED consent (Medical law) LIVER abscesses
Zdroj:	Pediatric Allergy & Immunology; Oct2024, Vol. 35 Issue 10, p1-5, 5p
Abstrakt:	The article discusses a novel hypomorphic variant in the CYBB gene that causes chronic granulomatous disease (CGD) with incomplete penetrance. CGD is a rare genetic disorder that leads to recurrent infections and inflammatory complications. The variant identified in this study results in reduced NADPH oxidase activity, affecting patients differently, with some showing severe symptoms while others remain asymptomatic. The findings highlight the importance of considering both immunological assays and clinical symptoms for appropriate therapeutic decisions in CGD patients. [Extracted from the article]
Databáze:	Complementary Index
Externí odkaz:	Zobrazit plný text záznamu Plný text