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Karin R Engelhardt

Showing results (21-30 of 32) with videos related to

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Science Immunology|June 17, 2018
ZNF341 controls STAT3 expression and thereby immunocompetenceStefanie Frey-Jakobs, Julia M Hartberger, Manfred Fliegauf, et al.
American Journal of Human Genetics|March 19, 2024
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndromeCaspar I van der Made, Simone Kersten, Odelia Chorin, et al.
The Journal of Allergy and Clinical Immunology|December 17, 2009
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndromeKarin R Engelhardt, Sean McGhee, Sabine Winkler, et al.
Science Immunology|December 15, 2019
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in <i>STAT2</i>Christopher J A Duncan, Benjamin J Thompson, Rui Chen, et al.
Science Immunology|May 24, 2024
<i>NUDCD3</i> deficiency disrupts V(D)J recombination to cause SCID and Omenn syndromeRui Chen, Elena Lukianova, Ina Schim van der Loeff, et al.
The Journal of Allergy and Clinical Immunology|April 5, 2014
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levelsAtfa Sassi, Sandra Lazaroski, Gang Wu, et al.
Blood|November 1, 2014
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutationsJoshua D Milner, Tiphanie P Vogel, Lisa Forbes, et al.
Nature Immunology|February 6, 2019
An essential role for the Zn<sup>2+</sup> transporter ZIP7 in B cell developmentConsuelo Anzilotti, David J Swan, Bertrand Boisson, et al.
Journal of Crohn'S & Colitis|April 23, 2021
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune DysregulationJodie Ouahed, Judith R Kelsen, Waldo A Spessott, et al.
Nature Genetics|March 30, 2021
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and miceLin Wang, Dominik Aschenbrenner, Zhiyang Zeng, et al.
Pageof 4

Showing results (21-30 of 32) with videos related to

Sort By:
Pageof 4
Science Immunology|June 17, 2018
ZNF341 controls STAT3 expression and thereby immunocompetenceStefanie Frey-Jakobs, Julia M Hartberger, Manfred Fliegauf, et al.
American Journal of Human Genetics|March 19, 2024
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndromeCaspar I van der Made, Simone Kersten, Odelia Chorin, et al.
The Journal of Allergy and Clinical Immunology|December 17, 2009
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndromeKarin R Engelhardt, Sean McGhee, Sabine Winkler, et al.
Science Immunology|December 15, 2019
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in <i>STAT2</i>Christopher J A Duncan, Benjamin J Thompson, Rui Chen, et al.
Science Immunology|May 24, 2024
<i>NUDCD3</i> deficiency disrupts V(D)J recombination to cause SCID and Omenn syndromeRui Chen, Elena Lukianova, Ina Schim van der Loeff, et al.
The Journal of Allergy and Clinical Immunology|April 5, 2014
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levelsAtfa Sassi, Sandra Lazaroski, Gang Wu, et al.
Blood|November 1, 2014
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutationsJoshua D Milner, Tiphanie P Vogel, Lisa Forbes, et al.
Nature Immunology|February 6, 2019
An essential role for the Zn<sup>2+</sup> transporter ZIP7 in B cell developmentConsuelo Anzilotti, David J Swan, Bertrand Boisson, et al.
Journal of Crohn'S & Colitis|April 23, 2021
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune DysregulationJodie Ouahed, Judith R Kelsen, Waldo A Spessott, et al.
Nature Genetics|March 30, 2021
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and miceLin Wang, Dominik Aschenbrenner, Zhiyang Zeng, et al.
Pageof 4