Neutrophils: between host defence, immune modulation, and tissue injury

P Kruger, M Saffarzadeh, ANR Weber, N Rieber… - PLoS …, 2015 - journals.plos.org
Neutrophils, the most abundant human immune cells, are rapidly recruited to sites of
infection, where they fulfill their life-saving antimicrobial functions. While traditionally …

Wiskott‐Aldrich syndrome: a comprehensive review

MJ Massaad, N Ramesh… - Annals of the New York …, 2013 - Wiley Online Library
Wiskott‐Aldrich syndrome (WAS) is a rare X‐linked primary immunodeficiency characterized
by microthrombocytopenia, eczema, recurrent infections, and an increased incidence of …

Practice parameter for the diagnosis and management of primary immunodeficiency

FA Bonilla, DA Khan, ZK Ballas, J Chinen… - Journal of Allergy and …, 2015 - Elsevier
The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American
College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for …

Pathophysiology and management of inherited bone marrow failure syndromes

A Shimamura, BP Alter - Blood reviews, 2010 - Elsevier
The inherited marrow failure syndromes are a diverse set of genetic disorders characterized
by hematopoietic aplasia and cancer predisposition. The clinical phenotypes are highly …

Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease

PA Hernandez, RJ Gorlin, JN Lukens, S Taniuchi… - Nature …, 2003 - nature.com
WHIM syndrome is an immunodeficiency disease characterized by neutropenia,
hypogammaglobulinemia and extensive human papillomavirus (HPV) infection. Despite the …

Endocytosis and signaling: cell logistics shape the eukaryotic cell plan

S Sigismund, S Confalonieri, A Ciliberto… - Physiological …, 2012 - journals.physiology.org
Our understanding of endocytosis has evolved remarkably in little more than a decade. This
is the result not only of advances in our knowledge of its molecular and biological workings …

WASP: a key immunological multitasker

AJ Thrasher, SO Burns - Nature Reviews Immunology, 2010 - nature.com
Abstract The Wiskott–Aldrich syndrome protein (WASP) is an important regulator of the actin
cytoskeleton that is required for many haematopoietic and immune cell functions, including …

Practice parameter for the diagnosis and management of primary immunodeficiency

FA Bonilla, IL Bernstein, DA Khan, ZK Ballas… - Annals of allergy …, 2005 - Elsevier
The purpose of this Practice Parameter for the Diagnosis and Management of Primary
Immunodeficiency is to provide the consultant allergist/immunologist with a practical guide …

Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder

CA Wise, JD Gillum, CE Seidman… - Human molecular …, 2002 - academic.oup.com
PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM#
604416) and familial recurrent arthritis (FRA) are rare inherited disorders of early onset …

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

S Boisson-Dupuis, XF Kong, S Okada… - Current opinion in …, 2012 - Elsevier
The genetic dissection of various human infectious diseases has led to the definition of
inborn errors of human STAT1 immunity of four types, including (i) autosomal recessive (AR) …