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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
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HSCT corrects primary immunodeficiency and immune dysregulation in patients with POMP-related autoinflammatory disease
(2021)
Caridad Martinez
;
Frédéric Ebstein
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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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Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia
(2022)
Matilde I. Conte
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M. Cecilia Poli
;
Angelo Taglialatela
;
Giuseppe Leuzzi
;
Ivan K. Chinn
9Scopus© Citations 13
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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
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Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis
(2018)
Ivan K. Chinn
;
Olive S. Eckstein
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Erin C. Peckham-Gregory
;
Baruch R. Goldberg
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Lisa R. Forbes
<jats:title>Key Points</jats:title> <jats:p>Whole-exome sequencing may identify specific therapeutic opportunities for patients with HLH. HLH should be conceptualized as a critical illness phenotype driven by toxic activation of immune cells from different underlying mechanisms.</jats:p>
Scopus© Citations 167 1

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