Neutropenia in primary immunodeficiency

WHIM syndrome caused by a single amino acid substitution in the carboxy-tail of chemokine receptor CXCR4

(2012) Q. Liu et al.   BLOOD

Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans

(2012) F. Candotti et al.   BLOOD

The phenotype of human STK4 deficiency

(2012) H. Abdollahpour et al.   BLOOD

Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia

(2012) Göran Carlsson et al.   BRITISH JOURNAL OF HAEMATOLOGY

Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

(2012) Elisa A Colombo et al.   Orphanet Journal of Rare Diseases

G-CSF improves murine G6PC3-deficient neutrophil function by modulating apoptosis and energy homeostasis

(2011) H. S. Jun et al.   BLOOD

The CXCR4 antagonist plerixafor is a potential therapy for myelokathexis, WHIM syndrome

(2011) D. C. Dale et al.   BLOOD

Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency

(2011) R. Sokolic et al.   BLOOD

The CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndrome

(2011) D. H. McDermott et al.   BLOOD

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

(2011) N. T. Nehme et al.   BLOOD

Clinical Practice Guideline for the Use of Antimicrobial Agents in Neutropenic Patients with Cancer: 2010 Update by the Infectious Diseases Society of America

(2011) Alison G. Freifeld et al.   CLINICAL INFECTIOUS DISEASES

G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction

(2011) B. Hayee et al.   GLYCOBIOLOGY

Outcome of allogeneic stem cell transplantation in adults with common variable immunodeficiency

(2011) Marta Rizzi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A Case of Syndromic Neutropenia and Mutation in G6PC3

(2011) Simona Gatti et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Extended Spectrum of Human Glucose-6-Phosphatase Catalytic Subunit 3 Deficiency: Novel Genotypes and Phenotypic Variability in Severe Congenital Neutropenia

(2011) Kaan Boztug et al.   JOURNAL OF PEDIATRICS

Congenital neutropenia: diagnosis, molecular bases and patient management

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

Congenital and acquired neutropenia consensus guidelines on diagnosis from the Neutropenia Committee of the Marrow Failure Syndrome Group of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica)

(2011) Francesca Fioredda et al.   PEDIATRIC BLOOD & CANCER

Journal Info Home About the Journal Editorial Board Archive Research Topics View Some Authors Review Guidelines Subscribe to Alerts Search Article Type Publication Date ...... Go Author Info Why Submit? Fees Article Types Author Guidelines Submission Checklist Contact Editorial Office Submit Manuscript Review ARTICLE Abstract Full Text PDF 0 Write a Comment Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency

(2011) Waleed Al-Herz   Frontiers in Immunology

A variant allele of Growth Factor Independence 1 (GFI1) is associated with acute myeloid leukemia

(2010) C. Khandanpour et al.   BLOOD

Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis

(2010) D. H. McDermott et al.   BLOOD

Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose-6-phosphatase- -deficient neutrophils in a congenital neutropenia syndrome

(2010) H. S. Jun et al.   BLOOD

Two cases of disseminated Mycobacterium avium infection associated with a new immunodeficiency syndrome related to CXCR4 dysfunctions

(2010) A.-V. Doncker et al.   CLINICAL MICROBIOLOGY AND INFECTION

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3

(2010) Siddharth Banka et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome

(2010) Amanda J. Walne et al.   HUMAN MOLECULAR GENETICS

Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes

(2010) Rebecca H. Buckley   IMMUNOLOGIC RESEARCH

AMD3100 is a potent antagonist at CXCR4R334X, a hyperfunctional mutant chemokine receptor and cause of WHIM syndrome

(2010) David H. McDermott et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease

(2010) Stefan Stein et al.   NATURE MEDICINE

The Growth Factor Independence-1 (Gfi1) Is Overexpressed in Chronic Myelogenous Leukemia

(2009) Min Huang et al.   ACTA HAEMATOLOGICA

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

(2009) Ludovica Volpi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Defining the Intensity of Conditioning Regimens: Working Definitions

(2009) Andrea Bacigalupo et al.   BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

Retrovirus gene therapy for X-linked chronic granulomatous disease can achieve stable long-term correction of oxidase activity in peripheral blood neutrophils

(2009) E. M. Kang et al.   BLOOD

How I treat ADA deficiency

(2009) H. B. Gaspar et al.   BLOOD

Impaired neutrophil migration and phagocytosis in IRAK-4 deficiency

(2009) Gerben Bouma et al.   BRITISH JOURNAL OF HAEMATOLOGY

Use of Cytokine Therapy in Primary Immunodeficiency

(2009) Sumita Roy-Ghanta et al.   CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY

Successful umbilical cord blood stem cell transplantation in a child with WHIM syndrome

(2009) Gergely Kriván et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Respiratory distress and sudden death of a patient with GSDIb chronic neutropenia: possible role of pegfilgrastim

(2009) J. Donadieu et al.   HAEMATOLOGICA

G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia

(2009) K. Beel et al.   HAEMATOLOGICA

Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1

(2009) M. Wenham et al.   HAEMATOLOGICA

Neutropenia and Primary Immunodeficiency Diseases

(2009) Nima Rezaei et al.   INTERNATIONAL REVIEWS OF IMMUNOLOGY

Impaired Priming and Activation of the Neutrophil NADPH Oxidase in Patients with IRAK4 or NEMO Deficiency

(2009) Anjali Singh et al.   JOURNAL OF IMMUNOLOGY

Gene Therapy for Immunodeficiency Due to Adenosine Deaminase Deficiency

(2009) Alessandro Aiuti et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Syndrome with Congenital Neutropenia and Mutations inG6PC3

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

Is pegfilgrastim safe and effective in congenital neutropenia? An analysis of the French Severe Chronic Neutropenia registry

(2009) Blandine Beaupain et al.   PEDIATRIC BLOOD & CANCER

Pegfilgrastim in children with severe congenital neutropenia

(2009) Francesca Fioredda et al.   PEDIATRIC BLOOD & CANCER

Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma

(2008) Mervi Taskinen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical implications ofELA2-,HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia

(2008) Cornelia Zeidler et al.   BRITISH JOURNAL OF HAEMATOLOGY

WHIM syndrome: congenital immune deficiency disease

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

Severe congenital neutropenia and pegfilgrastim

(2008) Päivi M. Lähteenmäki et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Mutations of the Wiskott–Aldrich Syndrome Protein affect protein expression and dictate the clinical phenotypes

(2008) Hans D. Ochs   IMMUNOLOGIC RESEARCH

Bone Marrow Transplantation in Glycogen Storage Disease Type 1b

(2008) Germaine Pierre et al.   JOURNAL OF PEDIATRICS

Lethal graft‐versus‐host disease in congenital neutropenia caused by p14 deficiency after allogeneic bone marrow transplantation from an HLA‐identical sibling

(2008) Georg Bohn et al.   PEDIATRIC BLOOD & CANCER

Immune Reconstitution and Recovery of FOXP3 (Forkhead Box P3)-Expressing T Cells After Transplantation for IPEX (Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked) Syndrome

(2008) H. Zhan et al.   PEDIATRICS

An exemplum of XLA

(2007) Luigi D. Notarangelo et al.   CLINICAL IMMUNOLOGY