Article
A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes.
Journal of clinical immunology - 1 Nov 2021
Guennoun Andrea, Bougarn Salim, Khan Taushif, Mackeh Rafah, Rahman Mahbuba, Al-Ali Fatima, Ata Manar, Aamer Waleed, Prosser Debra, Habib Tanwir, Chin-Smith Evonne, Al-Darwish Khawla, Zhang Qian, Al-Shakaki Alya, Robay Amal, Crystal Ronald G, Fakhro Khalid, Al-Naimi Amal, Al Maslamani Eman, Tuffaha Amjad, Janahi Ibrahim, Janahi Mohammad, Love Donald R, Karim Mohammed Yousuf, Lo Bernice, Hassan Amel, Adeli Mehdi, Marr Nico
Abstract excerpt
PURPOSE: Human serine/threonine kinase 4 (STK4) deficiency is a rare, autosomal recessive genetic disorder leading to combined immunodeficiency; however, the extent to which immune signaling and host defense are impaired is unclear. We assessed the functional consequences of a novel, homozygous nonsense STK4 mutation (NM_006282.2:c.871C > T, p.Arg291*) identified in a pediatric patient by comparing his innate and...
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