Associated Papers
A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity.
Shibata H et al.
Journal of Clinical Immunology, 2024
Early hematopoietic cell transplantation for familial hemophagocytic lymphohistiocytosis in a regional treatment network in Japan.
Ishimura M et al.
International Journal of Hematology, 2024
Functional role of UNC13D in immune diseases and its therapeutic applications.
Duong VT et al.
Frontiers in Immunology, 2024
Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis.
Shibata H et al.
Blood, 2018
A CD57+ CTL Degranulation Assay Effectively Identifies Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients.
Hori M et al.
Journal of Clinical Immunology, 2017
Late-Onset Non-HLH Presentations of Growth Arrest, Inflammatory Arachnoiditis, and Severe Infectious Mononucleosis, in Siblings with Hypomorphic Defects in UNC13D.
Gray PE et al.
Frontiers in Immunology, 2017
A novel homozygous mutation in UNC13D presenting as Epstein-Barr-virus-associated lymphoproliferative disease at 9 years of age.
Bienemann K et al.
Leukemia & Lymphoma, 2016
Spinal cord involvement in a child with familial hemophagocytic lymphohistiocytosis.
Gokce M et al.
Journal of Pediatric Neurosciences, 2012
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