Evaluation of C4 Gene Copy Number in Pediatric Acute Neuropsychiatric Syndrome

• Published in: Developmental neuroscience Vol. 45; no. 6; pp. 315 - 324
• Main Authors: Kalinowski, Agnieszka, Tian, Lu, Pattni, Reenal, Ollila, Hanna, Khan, Maroof, Manko, Cindy, Silverman, Melissa, Ma, Meiqian, Columbo, Laurie, Farhadian, Bahare, Swedo, Susan, Murphy, Tanya, Johnson, Mats, Fernell, Elisabeth, Gillberg, Christopher, Thienemann, Margo, Mellins, Elizabeth D, Levinson, Douglas F, Urban, Alexander E, Frankovich, Jennifer
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland 2023
• Subjects: Arthritis - genetics; Child; Complement C4a - genetics; Complement C4b - genetics; Gene Dosage; Genotype; Humans; Research Article; C4 copy number; Acute pediatric neuropsychiatric syndrome; Complement; C4B gene copy number; Juvenile idiopathic arthritis

Pediatric acute-onset neuropsychiatric syndrome (PANS) is an abrupt-onset neuropsychiatric disorder. PANS patients have an increased prevalence of comorbid autoimmune illness, most commonly arthritis. In addition, an estimated one-third of PANS patients present with low serum C4 protein, suggesting...