A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

Dominant activating RAC2 mutation with lymphopenia, immunodeficiency and cytoskeletal defects

(2019) Amy P. Hsu et al.   BLOOD

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

(2018) Simone Martinelli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Interleukin-18 diagnostically distinguishes and pathogenically promotes human and murine macrophage activation syndrome

(2018) Eric S. Weiss et al.   BLOOD

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis

(2018) Ivan K. Chinn et al.   BLOOD

The actin remodeling protein cofilin is crucial for thymic αβ but not γδ T-cell development

(2018) Isabel Seeland et al.   PLOS BIOLOGY

An Update on Autoinflammatory Diseases: Inflammasomopathies

(2018) Cassandra R. Harapas et al.   Current Rheumatology Reports

The pyrin inflammasome: from sensing RhoA GTPases-inhibiting toxins to triggering autoinflammatory syndromes

(2018) Yvan Jamilloux et al.   Pathogens and Disease

T cell defects in patients with ARPC1B germline mutations account for their combined immunodeficiency

(2018) Immacolata Brigida et al.   BLOOD

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

(2018) Christiane K. Bauer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

(2017) Asbjørg Stray-Pedersen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Defective thymic output in WAS patients is associated with abnormal actin organization

(2017) Wenyan Li et al.   Scientific Reports

Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

(2016) Elisabetta Flex et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Elevated circulating levels of interferon-γ and interferon-γ-induced chemokines characterise patients with macrophage activation syndrome complicating systemic juvenile idiopathic arthritis

(2016) Claudia Bracaglia et al.   ANNALS OF THE RHEUMATIC DISEASES

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

(2016) Karthik A Jagadeesh et al.   NATURE GENETICS

Macrophage activation syndrome in the era of biologic therapy

(2016) Alexei A. Grom et al.   Nature Reviews Rheumatology

Macrothrombocytopenia and developmental delay with ade novo CDC42mutation: Yet another locus for thrombocytopenia and developmental delay

(2015) Toshiki Takenouchi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Filopodia in cell adhesion, 3D migration and cancer cell invasion

(2015) Guillaume Jacquemet et al.   CURRENT OPINION IN CELL BIOLOGY

Aberrant actin depolymerization triggers the pyrin inflammasome and autoinflammatory disease that is dependent on IL-18, not IL-1β

(2015) Man Lyang Kim et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network

(2015) Aurélie Caye et al.   NATURE GENETICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation

(2014) Neil Romberg et al.   NATURE GENETICS

An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome

(2014) Scott W Canna et al.   NATURE GENETICS

IQGAP1 Is Important for Activation of Caspase-1 in Macrophages and Is Targeted by Yersinia pestis Type III Effector YopM

(2014) L. K. Chung et al.   mBio

Spatial control of Cdc42 signalling by a GM130–RasGRF complex regulates polarity and tumorigenesis

(2014) Francesco Baschieri et al.   Nature Communications

Hemophagocytic Lymphohistiocytosis

(2013) Flavia G. N. Rosado et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

Prenylation and Membrane Localization of Cdc42 Are Essential for Activation by DOCK7

(2013) Yeyun Zhou et al.   BIOCHEMISTRY

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Protein palmitoylation and subcellular trafficking

(2011) Clara Aicart-Ramos et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

How I treat hemophagocytic lymphohistiocytosis

(2011) M. B. Jordan et al.   BLOOD

Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: Implications for pathogenesis and potential detection by newborn screening

(2011) Majed Dasouki et al.   CLINICAL IMMUNOLOGY

Evaluation of a Flow Cytometry-Based Assay for Natural Killer Cell Activity in Clinical Settings

(2011) R. Valiathan et al.   SCANDINAVIAN JOURNAL OF IMMUNOLOGY

Transience in polarization of cytolytic effectors is required for efficient killing and controlled by Cdc42

(2010) P. Sinai et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Effector Proteins Exert an Important Influence on the Signaling-active State of the Small GTPase Cdc42

(2008) Matthew J. Phillips et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Filopodia: molecular architecture and cellular functions

(2008) Pieta K. Mattila et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY