周青

Research Findings: Identified more than 10 disease causal genes by exome sequencing:<br><br>1. Identified CECR1 mutations in DADA2 (ADA2 Deficiency);<br>2. Identified OTULIN mutations in OTULIPENIA;<br>3. Identified TNFAIP3 mutations in HA20 (Haploinsufficiency of A20); 4. Identified PLCG2 mutation in APLAID (autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation);<br>5. Identified NLRP3 somatic mutation in adult onset CAPS (Cryopyrin-Associated Periodic Syndrome);<br>6. Identified PSMA3, POMP, PSMB4, and PSMB9 mutations in CANDLE (Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature);<br>7. Identified TRNT1 mutations in SIFD (congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay);<br>8. Identified C1R mutation in SLE (Systemic lupus erythematosus);