Search Results

Now showing 1 - 5 of 5

Some of the metrics are blocked by your
consent settings
Clinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiency
(Elsevier BV, 2025-05)
Manar Abdalgani
;
Evelyn R. Hernandez
;
Luis A. Pedroza
;
Ivan K. Chinn
;
Lisa R. Forbes Satter
Scopus© Citations 1 2
Some of the metrics are blocked by your
consent settings
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease
(2020)
Sarah A. Cook
;
William A. Comrie
;
POLI HARLOWE, MARIA CECILIA BERTA
;
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
Some of the metrics are blocked by your
consent settings
Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia
(2022)
Matilde I. Conte
;
M. Cecilia Poli
;
Angelo Taglialatela
;
Giuseppe Leuzzi
;
Ivan K. Chinn
9Scopus© Citations 13
Some of the metrics are blocked by your
consent settings
Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders
(2022)
Lisa R. Forbes
;
Olive S. Eckstein
;
Nitya Gulati
;
Erin C. Peckham-Gregory
;
Nmazuo W. Ozuah
14Scopus© Citations 15
Some of the metrics are blocked by your
consent settings
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

CRIS

Browse

Filters

Settings

Sort By

Results per page

Search Results