Associated Papers
Clinical and genetic features of UNC13D deficiency with hypogammaglobulinemia.
Xiong L et al.
Frontiers in Immunology, 2025
Phenotypic heterogeneity and genotypic spectrum of inborn errors of immunity identified through whole exome sequencing in a Thai patient cohort.
Tengsujaritkul M et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2022
Identification of a novel nonsense mutation in the UNC13D gene from a patient with hemophagocytic lymphohistiocytosis: a case report.
Hu X et al.
Bmc Medical Genetics, 2018
Characterization of a novel splicing mutation in UNC13D gene through amplicon sequencing: a case report on HLH.
Liu D et al.
Bmc Medical Genetics, 2017
Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis.
Mukda E et al.
International Journal of Hematology, 2017
Screening the PRF1, UNC13D, STX11, SH2D1A, XIAP, and ITK gene mutations in Chinese children with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis.
Zhizhuo H et al.
Pediatric Blood & Cancer, 2012
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