Contact us if you wish to identify or are looking for a second opinion on the genetic variants that may have caused PID, AID, CD, UC or SLE.
The relatively naïve and immature immune system from infants and children face numerous challenges in everyday life. The suspicion or diagnosis of primary immunodeficiency (PID), autoinflammatory disease (AID), Chrohn's disease (CD), Ulcerative colitis (UC), systemic lupus erythematosus (SLE) can be devastating to the families. Many of these pediatric-onset illness have significant underlying genetic contributions. Identification of compound heterozygous variants of recessive genes, X-linked variants in boys, and de novo variants may provide definitive diagnosis and inform precision treatment.
Through the generous sponsorship of Guangzhou Women and Children's Medical Center, we perform whole exome sequencing (WES) and bioinformatic analysis for affected children, their siblings and parents. We have helped with diagnosis of child with NLRC4 mutation that causes AID (J Allergy Clin Immunol. 2018 Dec;142(6):1956-1967.e6. doi: 10.1016/j.jaci.2018.04.033. ), and have also identified IBD children requiring bone marrow transplantation for carrying fatal mutations in IL10 receptor and XIAP. In the laboratory, many talented postdoc scientists and students study these disease-modifying variants and always aim to find a curative medicine or treatment.
For parents and clinicians looking after children with PID, AID, CD, UC or SLE, contact us if you wish to identify or looking for a second opinion on the genetic variants that may have caused the disease.