Samuel Cern Cher Chiang

PGM3-SCID: Differential impact of glycosylation on lymphocyte lineage development and function. Cherneskie, J; Chiang, S; Akeno, N; Shaw, I; Le, S; Cobb, C; Owsley, E; Le, T. Pediatric Allergy and Immunology. 2026; 37(6):e70405.

Speaking the same language: international cross-validation of emerging biomarkers for juvenile idiopathic arthritis and Still's Disease. Matt, MG; Fuehner, S; Do, T; Schleifenbaum, S; Chiang, S; Marsh, R; Wouters, C; Matthys, P; Gouwy, M; Foell, D; Brown, KL; Cabral, DA; Schulert, G; Kessel, C. Pediatric Rheumatology. 2026; 24(1).

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.

Validation of an Interferon Type I Score Test on the Nanostring nCounter Platform. Chiang, S; Yang, L; Akeno, N; Owsley, E; De Jesus, A; Goldbach-Mansky, R; Marsh, R; Bleesing, J. Journal of Human Immunity. 2025; 1(CIS2025).

Clinical and Analytical Validation of a NOD2 Functional Test for XIAP/XLP2 Diagnosis. Chiang, S; Akeno, N; Owsley, E; Verbsky, J; Ibrahimova, A; Bleesing, J; Marsh, R. Journal of Human Immunity. 2025; 1(CIS2025).

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).