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The Pediatric Infectious Disease Journal
|
August 24, 2018
Fatal Central Nervous System Lymphocytic Vasculitis after Treatment for Burkitt Lymphoma in a Patient with a SH2D1A Mutation
João Farela Neves, Lamberto Torralba Raga, Samuel C C Chiang, et al.
Frontiers in Immunology
|
November 13, 2025
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
Samuel C C Chiang, Erika Owsley, Ammar Husami, et al.
Genes
|
December 6, 2016
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype
Nadia Skauli, Sean Wallace, Samuel C C Chiang, et al.
Pediatric Blood & Cancer
|
January 30, 2020
Diagnostic challenges for a novel SH2D1A mutation associated with X-linked lymphoproliferative disease
Lamberto Torralba-Raga, Bianca Tesi, Samuel C C Chiang, et al.
Journal of Clinical Immunology
|
May 6, 2016
Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation
Bianca Tesi, Peter Priftakis, Fredrik Lindgren, et al.
Frontiers in Immunology
|
January 25, 2014
An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2
Martha-Lena Müller, Samuel C C Chiang, Marie Meeths, et al.
Journal of Pediatric Hematology/Oncology
|
July 11, 2017
A Case of Familial Hemophagocytic Lymphohistiocytosis Type 4 With Involvement of the Central Nervous System Complicated With Infarct
Saliha Ciraci, Alper Ozcan, Mustafa M Ozdemir, et al.
The Journal of Experimental Medicine
|
May 21, 2014
Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency
Frank Cichocki, Heinrich Schlums, Hongchuan Li, et al.
Blood
|
June 10, 2022
Quercetin ameliorates XIAP deficiency-associated hyperinflammation
Samuel C C Chiang, Erika Owsley, Neelam Panchal, et al.
The Journal of Rheumatology
|
February 16, 2021
Efficacy of Moderately Dosed Etoposide in Macrophage Activation Syndrome-Hemophagocytic Lymphohistiocytosis
AnnaCarin Horne, Tatiana von Bahr Greenwood, Samuel C C Chiang, et al.
Page
of 4
Search research articles
Search
Showing results (11-20 of 40) with videos related to
Sort By:
Page
of 4
The Pediatric Infectious Disease Journal
|
August 24, 2018
Fatal Central Nervous System Lymphocytic Vasculitis after Treatment for Burkitt Lymphoma in a Patient with a SH2D1A Mutation
João Farela Neves, Lamberto Torralba Raga, Samuel C C Chiang, et al.
Frontiers in Immunology
|
November 13, 2025
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
Samuel C C Chiang, Erika Owsley, Ammar Husami, et al.
Genes
|
December 6, 2016
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype
Nadia Skauli, Sean Wallace, Samuel C C Chiang, et al.
Pediatric Blood & Cancer
|
January 30, 2020
Diagnostic challenges for a novel SH2D1A mutation associated with X-linked lymphoproliferative disease
Lamberto Torralba-Raga, Bianca Tesi, Samuel C C Chiang, et al.
Journal of Clinical Immunology
|
May 6, 2016
Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation
Bianca Tesi, Peter Priftakis, Fredrik Lindgren, et al.
Frontiers in Immunology
|
January 25, 2014
An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2
Martha-Lena Müller, Samuel C C Chiang, Marie Meeths, et al.
Journal of Pediatric Hematology/Oncology
|
July 11, 2017
A Case of Familial Hemophagocytic Lymphohistiocytosis Type 4 With Involvement of the Central Nervous System Complicated With Infarct
Saliha Ciraci, Alper Ozcan, Mustafa M Ozdemir, et al.
The Journal of Experimental Medicine
|
May 21, 2014
Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency
Frank Cichocki, Heinrich Schlums, Hongchuan Li, et al.
Blood
|
June 10, 2022
Quercetin ameliorates XIAP deficiency-associated hyperinflammation
Samuel C C Chiang, Erika Owsley, Neelam Panchal, et al.
The Journal of Rheumatology
|
February 16, 2021
Efficacy of Moderately Dosed Etoposide in Macrophage Activation Syndrome-Hemophagocytic Lymphohistiocytosis
AnnaCarin Horne, Tatiana von Bahr Greenwood, Samuel C C Chiang, et al.
Page
of 4