Congenital neutropenia: diagnosis, molecular bases and patient management

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome

(2011) A. J. Finch et al.   GENES & DEVELOPMENT

G-CSF-induced aneuploidy does not affect CD34+ cells and does not require cell division

(2010) C. Marmier-Savet et al.   BLOOD

Neutrophil development and function critically depend on Bruton tyrosine kinase in a mouse model of X-linked agammaglobulinemia

(2010) K. Fiedler 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

A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations

(2010) Muhammad Faiyaz-Ul-Haque et al.   EUROPEAN JOURNAL OF PEDIATRICS

Analysis of a French cohort of patients with large granular lymphocyte leukemia: a report on 229 cases

(2010) B. Bareau et al.   HAEMATOLOGICA

Hematopoietic stem cell transplantation in patients with severe congenital neutropenia: An analysis of 18 Japanese cases

(2010) Koichi Oshima et al.   PEDIATRIC TRANSPLANTATION

Neutrophil Elastase, Proteinase 3, and Cathepsin G as Therapeutic Targets in Human Diseases

(2010) B. Korkmaz et al.   PHARMACOLOGICAL REVIEWS

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

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

Neutropenia in congenital nephrotic syndrome of the Finnish type: role of urinary ceruloplasmin loss: Figure 1

(2009) Tim Ulinski et al.   BLOOD

Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy

(2009) K. G. Claeys et al.   BRAIN

Impaired neutrophil migration and phagocytosis in IRAK-4 deficiency

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

Prevalence of mutations inELANE,GFI1,HAX1,SBDS,WASandG6PC3in patients with severe congenital neutropenia

(2009) Jun Xia et al.   BRITISH JOURNAL OF HAEMATOLOGY

Neutrophil elastase–processing defect in cyclic hematopoietic dogs

(2009) Ronghua Meng et al.   EXPERIMENTAL HEMATOLOGY

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

Registries for Robust Evidence

(2009) Nancy A. Dreyer   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical and genetic diagnosis of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome in 10 patients

(2009) Laura Tassone et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Primary immunodeficiencies: 2009 update

(2009) Luigi D. Notarangelo et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

XLA-associated Neutropenia Treatment

(2009) Zachary David Jacobs et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

The Behavioral Phenotype of School-Age Children with Shwachman Diamond Syndrome Indicates Neurocognitive Dysfunction with Loss of Shwachman-Bodian-Diamond Syndrome Gene Function

(2009) Elizabeth N. Kerr et al.   JOURNAL OF PEDIATRICS

Contributions to Neutropenia from PFAAP5 (N4BP2L2), a Novel Protein Mediating Transcriptional Repressor Cooperation between Gfi1 and Neutrophil Elastase

(2009) S. J. Salipante et al.   MOLECULAR AND CELLULAR BIOLOGY

NAMPT is essential for the G-CSF–induced myeloid differentiation via a NAD+–sirtuin-1–dependent pathway

(2009) Julia Skokowa et al.   NATURE 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

Modulation of adaptive immunity with Toll-like receptors

(2009) Santhakumar Manicassamy et al.   SEMINARS IN IMMUNOLOGY

Shwachman–Diamond syndrome is associated with structural brain alterations on MRI

(2008) Sanna Toiviainen-Salo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco

(2008) Rahima Mostefai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations

(2008) M. Germeshausen et al.   BLOOD

Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman–Diamond syndrome

(2008) D Bhatla et al.   BONE MARROW TRANSPLANTATION

Functional interaction between mutations in the granulocyte colony-stimulating factor receptor in severe congenital neutropenia

(2008) Alister C. Ward et al.   BRITISH JOURNAL OF HAEMATOLOGY

Duffy (Fy),DARC, and neutropenia among women from the United States, Europe and the Caribbean

(2008) Victor R. Grann 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

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

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

Hematological manifestations of copper deficiency: a retrospective review

(2008) Thorvardur R. Halfdanarson et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specificHAX1mutations

(2008) G. Carlsson et al.   JOURNAL OF INTERNAL MEDICINE

Vitamin D3 induces pro-LL-37 expression in myeloid precursors from patients with severe congenital neutropenia

(2008) Jenny Karlsson et al.   JOURNAL OF LEUKOCYTE BIOLOGY

Transformation of severe congenital neutropenia to early acute lymphoblastic leukemia in a patient with HAX1 mutation and without G-CSF administration or receptor mutation

(2008) S Yetgin et al.   LEUKEMIA

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

(2008) Chantal Lagresle-Peyrou et al.   NATURE GENETICS

Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2

(2008) Ulrich Pannicke et al.   NATURE GENETICS

A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: Clinical and pathological findings

(2008) Marc Bitoun et al.   NEUROMUSCULAR DISORDERS

Shwachman–Diamond syndrome presenting in a premature infant as pancytopenia

(2008) L. Vandy Black et al.   PEDIATRIC BLOOD & CANCER

Intermittent chronic neutropenia in a patient with familial Mediterranean fever

(2008) K. Ganiou Tidjani et al.   PEDIATRIC BLOOD & CANCER