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.

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).

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.

68 LRBA dysfunction: a new diagnostic entity caused by biallelic LRBA missense variants results in reduced CTLA-4 expression and autoimmunity. Chiang, S; Murguia-Favela, L; Wright, N; Steele, M; Seroogy, C; Blanchard-Rohner, G; Shrikhande, A; Wilson, J; Yang, L; Owsley, E; Derfalvi, B; Brager, R; Jordan, M; Marwaha, A. Clinical Immunology. 2024; 262:110010.