Samuel Cern Cher Chiang

Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) functional deficiency caused by biallelic LRBA missense variants characterized by Evans syndrome or colitis. Chiang, SCC; Yang, L; Owsley, E; Husami, A; Akeno, N; Cobb, C; Hartog, NL; Elizalde, A; Seroogy, CM; Blanchard-Rohner, G; Marsh, R; Bleesing, J; Jordan, MB; Marwaha, AK. Journal of Allergy and Clinical Immunology. 2025; 156(2):270-278.

Diagnostic testing for hemophagocytic lymphohistiocytosis. Marsh, RA; Bleesing, JJ; Chiang, SCC. Journal of Immunological Methods. 2025; 537:113816.

Clinical spectrum of primary hemophagocytic lymphohistiocytosis: experience of reference centers in Central and Southeast Anatolia. Akyol, Ş; Yılmaz, E; Tokgöz, H; Karaman, K; Pekpak, E; Özcan, A; Şi Mşek, A; Arslan, B; Ören, AC; Gökçeli, HS; Özdemi R, MA; Chiang, SCC; Bryceson, YT; Ünal, E. Annals of Hematology. 2025; 104(1):123-130.

Case Report: A patient with a novel heterozygous IRF8 variant with repeated infection and immune-mediated organ disease, but without disseminated mycobacterial disease despite BCG immunization. Chiang, SCC; Owsley, E; Husami, A; Akeno, N; Cobb, CM; Yang, L; Marsh, RA; Myers, KA; Rubin, TS. Frontiers in Immunology. 2025; 16:1654617.

Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis. Chiang, SCC; Covill, LE; Tesi, B; Campbell, TM; Schlums, H; Nejati-Zendegani, J; Mördrup, K; Wood, S; Theorell, J; Sekine, T; Horne, A; Henter, J-I; Meeths, M; Bryceson, YT. Blood. 2024; 144(8):873-887.

Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect. Kögl, T; Chang, H-F; Staniek, J; Chiang, SCC; Thoulass, G; Lao, J; Weißert, K; Dettmer-Monaco, V; Geiger, K; Manna, PT; Bryceson, YT; Ehl, S; Aichele, P; Ammann, S. Journal of Experimental Medicine (JEM). 2024; 221(7).

Ruxolitinib Pharmacokinetics and Pharmacodynamics in Children with Acute and Chronic Graft-versus-Host Disease. Cook, E; Dong, M; Chiang, SCC; Luedeke, D; Lake, KE; Hoerth, C; Deavy, M; Setchell, KDR; Zhao, J; Punt, N; Davies, SM; Marsh, RA; Mehta, P; Khandelwal, P. Transplantation and Cellular Therapy. 2024; 30(5):528.e1-528.e12.

γδ CD8+ T cells and novel genetic variants in ZAP70 deficiency. Shah, I; Chiang, S; Yang, L; Akeno, N; Kelly, A; White, J; Caywood, E; Hwang, S; Le, T. Pediatric Allergy and Immunology. 2023; 34(10):e14035.

356 Children Under 2 Years Old Treated with Ruxolitinib for Acute and Chronic Graft-Versus-Host-Disease Demonstrate Variable Pharmacokinetics. Galletta, TJ; Dong, M; Vinks, AA; Chiang, SCC; Teusink-Cross, A; Marsh, RA; Davies, SM; Mehta, PA; Khandelwal, P. Transplantation and Cellular Therapy. 2023; 29(2):s271-s272.

Quercetin ameliorates XIAP deficiency-associated hyperinflammation. Chiang, SCC; Owsley, E; Panchal, N; Chaturvedi, V; Terrell, CE; Jordan, MB; Mehta, PA; Davies, SM; Akeno, N; Booth, C; Marsh, RA. Blood. 2022; 140(7):706-715.