List of works - Fernando E Sepulveda

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis

scientific article published on 6 June 2017

A novel immunoregulatory role for NK-cell cytotoxicity in protection from HLH-like immunopathology in mice.

scientific article published on 18 December 2014

Asparagine Endopeptidase Controls Anti-Influenza Virus Immune Responses through TLR7 Activation ⬇️

scientific article published on August 16, 2012

Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome

scientific article published on 01 January 2019

Blood monocytes sample MelanA/MART1 antigen for long-lasting cross-presentation to CD8+ T cells after differentiation into dendritic cells

scientific article published on 7 September 2017

Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency

scientific article published on 07 November 2019

Conventional dendritic cells require IRAP-Rab14 endosomes for efficient cross-presentation

scientific article published on 11 January 2012

Critical role for asparagine endopeptidase in endocytic Toll-like receptor signaling in dendritic cells

scientific article published on 29 October 2009

Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11

scientific article published on 16 November 2012

Dynamic Formation of Microvillus Inclusions During Enterocyte Differentiation in -Deficient Intestinal Organoids

scientific article published on 14 August 2018

Efficacy of ruxolitinib in subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis

scientific article published on 01 April 2020

Gene transfer into hematopoietic stem cells reduces HLH manifestations in a murine model of Munc13-4 deficiency

scientific article published on 21 December 2017

Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome

scientific article published on 29 October 2018

Graded defects in cytotoxicity determine severity of hemophagocytic lymphohistiocytosis in humans and mice

scientific article published on 16 December 2013

Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases

scientific article published on 27 December 2018

Ichthyosis as the dermatological phenotype associated with TTC7A mutations.

scientific article published on 31 August 2016

Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency

scientific article

Imprinting of CCR9 on CD4 T cells requires IL-4 signaling on mesenteric lymph node dendritic cells.

scientific article published in May 2008

Kinesin-1 regulates antigen cross-presentation through the scission of tubulations from early endosomes in dendritic cells

scientific article published on 14 April 2020

LYST Controls the Biogenesis of the Endosomal Compartment Required for Secretory Lysosome Function

scientific article published on 06 January 2015

Polygenic mutations in the cytotoxicity pathway increase susceptibility to develop HLH immunopathology in mice

scientific article

Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure

scientific article published on 13 November 2018

Therapeutic effect of JAK1/2 blockade on the manifestations of hemophagocytic lymphohistiocytosis in mice.

scientific article

Ttc7a regulates hematopoietic stem cell functions while controlling the stress-induced response

scientific article published on 19 April 2019

UNC93B1 interacts with the calcium sensor STIM1 for efficient antigen cross-presentation in dendritic cells.

scientific article published on 21 November 2017

List of works by Fernando E Sepulveda

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis

A novel immunoregulatory role for NK-cell cytotoxicity in protection from HLH-like immunopathology in mice.

Asparagine Endopeptidase Controls Anti-Influenza Virus Immune Responses through TLR7 Activation ⬇️

Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome

Blood monocytes sample MelanA/MART1 antigen for long-lasting cross-presentation to CD8+ T cells after differentiation into dendritic cells

Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency

Conventional dendritic cells require IRAP-Rab14 endosomes for efficient cross-presentation

Critical role for asparagine endopeptidase in endocytic Toll-like receptor signaling in dendritic cells

Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11

Dynamic Formation of Microvillus Inclusions During Enterocyte Differentiation in -Deficient Intestinal Organoids

Efficacy of ruxolitinib in subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis

Gene transfer into hematopoietic stem cells reduces HLH manifestations in a murine model of Munc13-4 deficiency

Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome

Graded defects in cytotoxicity determine severity of hemophagocytic lymphohistiocytosis in humans and mice

Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases

Ichthyosis as the dermatological phenotype associated with TTC7A mutations.

Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency

Imprinting of CCR9 on CD4 T cells requires IL-4 signaling on mesenteric lymph node dendritic cells.

Kinesin-1 regulates antigen cross-presentation through the scission of tubulations from early endosomes in dendritic cells

LYST Controls the Biogenesis of the Endosomal Compartment Required for Secretory Lysosome Function

Polygenic mutations in the cytotoxicity pathway increase susceptibility to develop HLH immunopathology in mice

Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure

Therapeutic effect of JAK1/2 blockade on the manifestations of hemophagocytic lymphohistiocytosis in mice.

Ttc7a regulates hematopoietic stem cell functions while controlling the stress-induced response

UNC93B1 interacts with the calcium sensor STIM1 for efficient antigen cross-presentation in dendritic cells.