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HSCT corrects primary immunodeficiency and immune dysregulation in patients with POMP-related autoinflammatory disease
(2021)
Caridad Martinez
;
Frédéric Ebstein
;
Sarah K. Nicholas
;
Marietta De Guzman
;
Lisa R. Forbes
8Scopus© Citations 21
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HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease
(2020)
Sarah A. Cook
;
William A. Comrie
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POLI HARLOWE, MARIA CECILIA BERTA
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Morgan Similuk
;
Andrew J. Oler
<jats:title>An inherited disorder makes WAVEs</jats:title> <jats:p> The WAVE regulatory complex (WRC) is a multiunit complex that regulates actin cytoskeleton formation. Although other actin-regulatory proteins modulate human immune responses, the precise role for the WRC has not yet been established. Cook <jats:italic>et al.</jats:italic> studied five patients from four unrelated families who harbor missense variants of the gene encoding the WRC component HEM1. These patients presented with recurrent infections and poor antibody responses, along with enhanced allergic and autoimmune disorders. HEM1 was found to be required for the regulation of cortical actin and granule release in T cells and also interacted with a key metabolic signaling complex contributing to the disease phenotype. By linking these interactions to immune function, this work suggests potential targets for future immunotherapies. </jats:p> <jats:p> <jats:italic>Science</jats:italic> , this issue p. <jats:related-article xmlns:xlink="http://www.w3.org/1999/xlink" ext-link-type="doi" issue="6500" page="202" related-article-type="in-this-issue" vol="369" xlink:href="10.1126/science.aay5663">202</jats:related-article> </jats:p>
10Scopus© Citations 94
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Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature
(2019)
Aidé Tamara Staines Boone
;
Ivan K. Chinn
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Carmen Alaez-Versón
;
Marco A. Yamazaki-Nakashimada
;
Karol Carrillo-Sánchez
2Scopus© Citations 32
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Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome
(2019)
Alejandra Aird
;
Macarena Lagos
;
Alexander Vargas-Hernández
;
Jennifer E. Posey
;
Zeynep Coban-Akdemir
4Scopus© Citations 27

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