Congenital Defects in Neutrophil Dynamics

Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib

(2014) H. S. Jun et al.   BLOOD

Actin cytoskeletal defects in immunodeficiency

(2014) Dale A. Moulding et al.   IMMUNOLOGICAL REVIEWS

Homeostatic Regulation of Blood Neutrophil Counts

(2014) S. von Vietinghoff et al.   JOURNAL OF IMMUNOLOGY

Wiskott-Aldrich syndrome: a comprehensive review

(2013) Michel J. Massaad et al.   Annals of the New York Academy of Sciences

The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy

(2013) P. Stepensky et al.   BLOOD

Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms

(2013) T. Tidwell et al.   BLOOD

Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes

(2013) Fabian Hauck et al.   Current Opinion in Allergy and Clinical Immunology

Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations

(2013) N Di Donato et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Gene therapy for PIDs: Progress, pitfalls and prospects

(2013) Sayandip Mukherjee et al.   GENE

Functional Analysis of a De NovoACTBMutation in a Patient with Atypical Baraitser-Winter Syndrome

(2013) Jennifer J. Johnston et al.   HUMAN MUTATION

Primary Immune Deficiency Treatment Consortium (PIDTC) report

(2013) Linda M. Griffith et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A Congenital Neutrophil Defect Syndrome Associated with Mutations in VPS45

(2013) Thierry Vilboux et al.   NEW ENGLAND JOURNAL OF MEDICINE

Cdc42 regulates neutrophil migration via crosstalk between WASp, CD11b, and microtubules

(2012) S. Kumar et al.   BLOOD

Excess F-actin mechanically impedes mitosis leading to cytokinesis failure in X-linked neutropenia by exceeding Aurora B kinase error correction capacity

(2012) D. A. Moulding et al.   BLOOD

Membrane Tension Maintains Cell Polarity by Confining Signals to the Leading Edge during Neutrophil Migration

(2012) Andrew R. Houk et al.   CELL

Animal Models of Human Granulocyte Diseases

(2012) Alejandro A. Schäffer et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

Leukocyte Adhesion Deficiencies

(2012) Edith van de Vijver et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

Rab27a-mediated protease release regulates neutrophil recruitment by allowing uropod detachment

(2012) R. K. Singh et al.   JOURNAL OF CELL SCIENCE

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

Infections and immunodeficiency in Down syndrome

(2011) G. Ram et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Hax1 regulates neutrophil adhesion and motility through RhoA

(2011) Peter J. Cavnar et al.   JOURNAL OF CELL BIOLOGY

β-Actin specifically controls cell growth, migration, and the G-actin pool

(2011) Tina M. Bunnell et al.   MOLECULAR BIOLOGY OF THE CELL

Congenital neutropenia: diagnosis, molecular bases and patient management

(2011) Jean Donadieu et al.   Orphanet Journal of Rare Diseases

A congenital activating mutant of WASp causes altered plasma membrane topography and adhesion under flow in lymphocytes

(2010) S. O. Burns et al.   BLOOD

In vivo labeling with 2H2O reveals a human neutrophil lifespan of 5.4 days

(2010) J. Pillay et al.   BLOOD

Live imaging of neutrophil motility in a zebrafish model of WHIM syndrome

(2010) K. B. Walters et al.   BLOOD

The French national registry of primary immunodeficiency diseases

(2010)   CLINICAL IMMUNOLOGY

Human phagocyte defect caused by a Rac2 mutation detected by means of neonatal screening for T-cell lymphopenia

(2010) Deborah Accetta et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes

(2010) Lisa S. Westerberg et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Severe congenital neutropenia and the unfolded protein response

(2009) Jun Xia et al.   CURRENT OPINION IN HEMATOLOGY

Chediak-Higashi syndrome

(2009) Jerry Kaplan et al.   CURRENT OPINION IN HEMATOLOGY

Shwachman-Diamond syndrome neutrophils have altered chemoattractant-induced F-actin polymerization and polarization characteristics

(2009) C. Orelio et al.   HAEMATOLOGICA

A common cofilin activity cycle in invasive tumor cells and inflammatory cells

(2009) J. van Rheenen et al.   JOURNAL OF CELL SCIENCE

Reactive Oxygen Species Regulate a Slingshot-Cofilin Activation Pathway

(2009) Jun-Sub Kim et al.   MOLECULAR BIOLOGY OF THE CELL

A Syndrome with Congenital Neutropenia and Mutations inG6PC3

(2009) Kaan Boztug et al.   NEW ENGLAND JOURNAL OF MEDICINE

Rab27a and Rab27b Regulate Neutrophil Azurophilic Granule Exocytosis and NADPH oxidase Activity by Independent Mechanisms

(2009) Jennifer L. Johnson et al.   TRAFFIC

Migration across the sinusoidal endothelium regulates neutrophil mobilization in response to ELR + CXC chemokines

(2008) Peter C. E. Burdon et al.   BRITISH JOURNAL OF HAEMATOLOGY

A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene

(2008) Karolien Beel et al.   BRITISH JOURNAL OF HAEMATOLOGY

WHIM syndrome: congenital immune deficiency disease

(2008) Toshinao Kawai et al.   CURRENT OPINION IN HEMATOLOGY