Neurol Genet 2021 Jun 9;7(3):e586. Epub 2021 Apr 9.
Center for Genetics and Inherited Diseases (E.A., N.A.M.A.), and Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Adults Neurology (M.O.), National Neuroscience Institute, King Fahad Medical City; Section of Medical Genetics (M.A.O.E.), Childrens Specialist Hospital, King Fahad Medical City; Department of Medical Imaging in King Abdulaziz Medical City (M.A.), King Saud Ibn Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center; Pathology and Clinical Laboratory Medicine Administration (I.B.), King Fahad Medical City; Molecular Pathology (M.S.), Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia; Department of Laboratory Medicine (R.W.A.P.), Boston Childrens Hospital, MA; Section of Medical Genetics (A.A.), Childrens Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Objective: To identify the genetic cause of a late-onset immunodeficiency and subacute progressive neurodegenerative disease affecting cognition, motor, visual, and cerebellar systems in a patient with a family history of 2 younger siblings with an early-onset immunodeficiency disease.
Methods: Physical examinations, immunologic, brain MRI, whole-exome sequencing, and segregation studies were used to identify the genetic and neuroimmunologic etiology of disease in this family.
Results: We identified a homozygous loss-of-function (LOF) mutation (c. Read More