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Stephan Ehl

Showing results (121-130 of 239) with videos related to

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The Journal of Allergy and Clinical Immunology|January 23, 2018
T-cell gene therapy for perforin deficiency corrects cytotoxicity defects and prevents hemophagocytic lymphohistiocytosis manifestationsSujal Ghosh, Marlene Carmo, Miguel Calero-Garcia, et al.
The Journal of Allergy and Clinical Immunology|May 15, 2012
Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosisCarsten Speckmann, Carla Neumann, Stephan Borte, et al.
American Journal of Human Genetics|October 7, 2009
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11Udo zur Stadt, Jan Rohr, Wenke Seifert, et al.
Pediatric Hematology and Oncology|June 25, 2025
The novel <i>XIAP</i> Lys396Ter variant alters mitochondrial membrane potential and endoplasmic reticulum intensity in monocytes of two XIAP-deficient patientsBenedetta Elena Di Majo, Fabiola Guerra, Mario Mauri, et al.
Frontiers in Immunology|June 30, 2023
Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (<i>FBP1, ACAD9)</i> and vesicle trafficking <i>(RAB27A)</i>Nina Brauer, Yuto Maruta, Miriam Lisci, et al.
The Journal of Allergy and Clinical Immunology. in Practice|September 12, 2018
Recommendations for the Use of Etoposide-Based Therapy and Bone Marrow Transplantation for the Treatment of HLH: Consensus Statements by the HLH Steering Committee of the Histiocyte SocietyStephan Ehl, Itziar Astigarraga, Tatiana von Bahr Greenwood, et al.
Journal of Clinical Immunology|June 8, 2026
Novel Partial Loss-of-function STAT3-variant as Cause of Hyper-IgE-Syndrome in a Danish Family with Variable ExpressivityCamilla Heldbjerg Drabe, Jonathan Gehrig, Jens Magnus Bernth Jensen, et al.
Journal of Clinical Immunology|June 28, 2018
T<sup>+</sup> NK<sup>+</sup> IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined ImmunodeficiencyPolina Stepensky, Baerbel Keller, Oded Shamriz, et al.
The Journal of Allergy and Clinical Immunology|June 22, 2017
Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutationChristian Klemann, Sandra Ammann, Miriam Heizmann, et al.
Pediatric Blood & Cancer|October 2, 2012
Wiskott-Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemiaAyami Yoshimi, Yoshiro Kamachi, Kosuke Imai, et al.
Pageof 24

Showing results (121-130 of 239) with videos related to

Sort By:
Pageof 24
The Journal of Allergy and Clinical Immunology|January 23, 2018
T-cell gene therapy for perforin deficiency corrects cytotoxicity defects and prevents hemophagocytic lymphohistiocytosis manifestationsSujal Ghosh, Marlene Carmo, Miguel Calero-Garcia, et al.
The Journal of Allergy and Clinical Immunology|May 15, 2012
Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosisCarsten Speckmann, Carla Neumann, Stephan Borte, et al.
American Journal of Human Genetics|October 7, 2009
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11Udo zur Stadt, Jan Rohr, Wenke Seifert, et al.
Pediatric Hematology and Oncology|June 25, 2025
The novel <i>XIAP</i> Lys396Ter variant alters mitochondrial membrane potential and endoplasmic reticulum intensity in monocytes of two XIAP-deficient patientsBenedetta Elena Di Majo, Fabiola Guerra, Mario Mauri, et al.
Frontiers in Immunology|June 30, 2023
Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (<i>FBP1, ACAD9)</i> and vesicle trafficking <i>(RAB27A)</i>Nina Brauer, Yuto Maruta, Miriam Lisci, et al.
The Journal of Allergy and Clinical Immunology. in Practice|September 12, 2018
Recommendations for the Use of Etoposide-Based Therapy and Bone Marrow Transplantation for the Treatment of HLH: Consensus Statements by the HLH Steering Committee of the Histiocyte SocietyStephan Ehl, Itziar Astigarraga, Tatiana von Bahr Greenwood, et al.
Journal of Clinical Immunology|June 8, 2026
Novel Partial Loss-of-function STAT3-variant as Cause of Hyper-IgE-Syndrome in a Danish Family with Variable ExpressivityCamilla Heldbjerg Drabe, Jonathan Gehrig, Jens Magnus Bernth Jensen, et al.
Journal of Clinical Immunology|June 28, 2018
T<sup>+</sup> NK<sup>+</sup> IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined ImmunodeficiencyPolina Stepensky, Baerbel Keller, Oded Shamriz, et al.
The Journal of Allergy and Clinical Immunology|June 22, 2017
Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutationChristian Klemann, Sandra Ammann, Miriam Heizmann, et al.
Pediatric Blood & Cancer|October 2, 2012
Wiskott-Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemiaAyami Yoshimi, Yoshiro Kamachi, Kosuke Imai, et al.
Pageof 24