Inherited thrombocytopenias: an updated guide for clinicians

Baseline dysmegakaryopoiesis in inherited thrombocytopenia/platelet disorder with predisposition to haematological malignancies

(2020) Elise Fournier et al.   BRITISH JOURNAL OF HAEMATOLOGY

An integrated approach to inherited platelet disorders: results from a research collaborative, the Sydney Platelet Group

(2020) David Rabbolini et al.   PATHOLOGY

Excellent Outcomes Following Hematopoietic Cell Transplantation for Wiskott-Aldrich Syndrome: A PIDTC Report

(2020) Lauri Burroughs et al.   BLOOD

Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of SRC

(2020) Serena Barozzi et al.   HAEMATOLOGICA

Diagnosis of hereditary platelet disorders in the era of next-generation sequencing:”primum non nocere”

(2019) Andreas Greinacher et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Simplifying the diagnosis of inherited platelet disorders? The new tools do not make it any easier

(2019) Andreas Greinacher et al.   BLOOD

Eltrombopag in preparation for surgery in patients with severe MYH9 ‐related thrombocytopenia

(2019) Carlo Zaninetti et al.   AMERICAN JOURNAL OF HEMATOLOGY

Diagnostic high-throughput sequencing of 2,396 patients with bleeding, thrombotic and platelet disorders

(2019) Kate Downes et al.   BLOOD

Thrombopoietin receptor agonists: Ten Years Later

(2019) Waleed Ghanima et al.   HAEMATOLOGICA

Lentiviral haemopoietic stem/progenitor cell gene therapy for treatment of Wiskott-Aldrich syndrome: interim results of a non-randomised, open-label, phase 1/2 clinical study

(2019) Francesca Ferrua et al.   Lancet Haematology

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

(2019) Claire Lentaigne et al.   BLOOD

Eltrombopag for the treatment of inherited thrombocytopenias: a phase 2 clinical trial

(2019) Carlo Zaninetti et al.   HAEMATOLOGICA

De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family

(2019) Lore De Kock et al.   PLATELETS

MYH9-related disease: it does exist, may be more frequent than you think and requires specific therapy

(2019) Raul Fernandez-Prado et al.   Clinical Kidney Journal

Correction of Severe Myelofibrosis, Impaired Platelet Functions and Abnormalities in a Patient with Gray Platelet Syndrome Successfully Treated by Stem Cell Transplantation

(2019) Rémi Favier et al.   PLATELETS

Renin-angiotensin System Blockade Therapy for Early Renal Involvement in MYH9-related Disease with an E1841K Mutation

(2019) Mari Tanaka et al.   INTERNAL MEDICINE

Validation of the ISTH/SSC bleeding assessment tool for inherited platelet disorders: A communication from the Platelet Physiology SSC

(2019) Paolo Gresele et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

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

Mutation inGNEis associated with a severe form of congenital thrombocytopenia

(2018) Jane Futterer et al.   BLOOD

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice

(2018) Inga Hofmann et al.   BLOOD

MYH9: Structure, functions and role of non-muscle myosin IIA in human disease

(2018) Alessandro Pecci et al.   GENE

Thrombopoietin Receptor Agonists in Hereditary Thrombocytopenias

(2018) Francesco Rodeghiero et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

(2018) Shoshana Revel-Vilk et al.   BLOOD

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

(2018) Immacolata Brigida et al.   BLOOD

Inherited thrombocytopenia associated with mutation of UDP-Galactose-4-Epimerase (GALE)

(2018) Aaron Seo et al.   HUMAN MOLECULAR GENETICS

Inherited platelet disorders : Management of the bleeding risk

(2018) Arnaud Dupuis et al.   TRANSFUSION CLINIQUE ET BIOLOGIQUE

A new form of inherited thrombocytopenia caused by loss-of-function mutations in PTPRJ

(2018) Caterina Marconi et al.   BLOOD

ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia

(2018) Michela Faleschini et al.   BRITISH JOURNAL OF HAEMATOLOGY

Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia

(2018) Tadbir K Bariana et al.   HAEMATOLOGICA

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

(2018) Sharissa L. Latham et al.   Nature Communications

Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37

(2017) Harald Schulze et al.   HAEMATOLOGICA

MDS1 and EVI1 complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies

(2017) Tim Ripperger et al.   HAEMATOLOGICA

Bleeding risk of surgery and its prevention in patients with inherited platelet disorders

(2017) Sara Orsini et al.   HAEMATOLOGICA

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

(2017) José M. Bastida et al.   HAEMATOLOGICA

Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features

(2017) Paul Saultier et al.   HAEMATOLOGICA

Bleeding is not the main clinical issue in many patients with inherited thrombocytopaenias

(2017) F. Melazzini et al.   HAEMOPHILIA

Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia

(2017) Irina Pleines et al.   JOURNAL OF CLINICAL INVESTIGATION

5’UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia

(2017) Caterina Marconi et al.   Journal of Hematology & Oncology

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

(2017) Takuya Takeichi et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders

(2017) A. Greinacher et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases

(2017) C. Zaninetti et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B

(2017) Carlos R. Ferreira et al.   MOLECULAR GENETICS AND METABOLISM

RUNX1 deficiency (familial platelet disorder with predisposition to myeloid leukemia, FPDMM)

(2017) Brigitte Schlegelberger et al.   SEMINARS IN HEMATOLOGY

Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease

(2017) Walter H. A. Kahr et al.   Nature Communications

Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37

(2017) Harald Schulze et al.   HAEMATOLOGICA

MDS1 and EVI1 complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies

(2017) Tim Ripperger et al.   HAEMATOLOGICA

Bleeding risk of surgery and its prevention in patients with inherited platelet disorders

(2017) Sara Orsini et al.   HAEMATOLOGICA

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

(2017) José M. Bastida et al.   HAEMATOLOGICA

Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features

(2017) Paul Saultier et al.   HAEMATOLOGICA

Correspondence Regarding the Consensus Statement from the Worldwide Network for Blood and Marrow Transplantation Standing Committee on Donor Issues

(2016) Jane E. Churpek et al.   BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

Rare variants inGP1BBare responsible for autosomal dominant macrothrombocytopenia

(2016) Suthesh Sivapalaratnam et al.   BLOOD

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

(2016) S. Stritt et al.   BLOOD

Guidelines for the use of platelet transfusions

(2016) Lise J. Estcourt et al.   BRITISH JOURNAL OF HAEMATOLOGY

Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease

(2016) Eva J. J. Verver et al.   EAR AND HEARING

Clinical and pathogenic features of ETV6 -related thrombocytopenia with predisposition to acute lymphoblastic leukemia

(2016) Federica Melazzini et al.   HAEMATOLOGICA

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects

(2016) B. Johnson et al.   HAEMATOLOGICA

Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34 + progenitors

(2016) Marjorie Poggi et al.   HAEMATOLOGICA

The European Hematology Association Roadmap for European Hematology Research: a consensus document

(2016) A. Engert et al.   HAEMATOLOGICA

Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders

(2016) Veronique Latger-Cannard et al.   Orphanet Journal of Rare Diseases

Successful use of eltrombopag for surgical preparation in a patient with ANKRD26-related thrombocytopenia

(2016) Mathieu Fiore et al.   PLATELETS

Inherited thrombocytopenias—recent advances in clinical and molecular aspects

(2016) Carlo L. Balduini et al.   PLATELETS

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

(2016) Ernest Turro et al.   Science Translational Medicine

Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg2+ homeostasis and cytoskeletal architecture

(2016) Simon Stritt et al.   Nature Communications

Clinical and pathogenic features of ETV6 -related thrombocytopenia with predisposition to acute lymphoblastic leukemia

(2016) Federica Melazzini et al.   HAEMATOLOGICA

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects

(2016) B. Johnson et al.   HAEMATOLOGICA

Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34 + progenitors

(2016) Marjorie Poggi et al.   HAEMATOLOGICA

The European Hematology Association Roadmap for European Hematology Research: a consensus document

(2016) A. Engert et al.   HAEMATOLOGICA

Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia

(2015) Tetsuya Niihori et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia

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

Platelet Transfusion: A Clinical Practice Guideline From the AABB

(2015) Richard M. Kaufman et al.   ANNALS OF INTERNAL MEDICINE

Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopenia

(2015) A. J. Gerrits et al.   BLOOD

Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1

(2015) W. S. Stevenson et al.   BLOOD

Outcomes Following Gene Therapy in Patients With Severe Wiskott-Aldrich Syndrome

(2015) Salima Hacein-Bey Abina et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects

(2015) Sarah J. Fletcher et al.   JOURNAL OF CLINICAL INVESTIGATION

Deleterious mutation in theFYBgene is associated with congenital autosomal recessive small-platelet thrombocytopenia

(2015) C. Levin et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Somatic mutations associated with leukemic progression of familial platelet disorder with predisposition to acute myeloid leukemia

(2015) I Antony-Debré et al.   LEUKEMIA

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1

(2015) Thomas Markello et al.   MOLECULAR GENETICS AND METABOLISM

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia

(2015) Leila Noetzli et al.   NATURE GENETICS

Reconstruction of Limb Deformities in Patients with Thrombocytopenia-absent Radius Syndrome

(2015) Ali Al Kaissi et al.   Orthopaedic Surgery

Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders

(2014) P. Noris et al.   BLOOD

A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene

(2014) V. T. Manchev et al.   BLOOD

The effect of desmopressin on platelet function: a selective enhancement of procoagulant COAT platelets in patients with primary platelet function defects

(2014) G. Colucci et al.   BLOOD

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

(2014) P. Noris et al.   HAEMATOLOGICA

Spectrum of the Mutations in Bernard-Soulier Syndrome

(2014) Anna Savoia et al.   HUMAN MUTATION

A family with distal myopathy with rimmed vacuoles associated with thrombocytopenia

(2014) Changqing Zhen et al.   NEUROLOGICAL SCIENCES

GNE myopathy associated with congenital thrombocytopenia: A report of two siblings

(2014) Rumiko Izumi et al.   NEUROMUSCULAR DISORDERS

Cochlear implantation is safe and effective in patients with MYH9-related disease

(2014) Alessandro Pecci et al.   Orphanet Journal of Rare Diseases

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

(2014) V. Nesin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gene Therapy for Wiskott-Aldrich Syndrome--Long-Term Efficacy and Genotoxicity

(2014) C. J. Braun et al.   Science Translational Medicine

ACTN1 Mutations Cause Congenital Macrothrombocytopenia

(2013) Shinji Kunishima et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Wiskott-Aldrich syndrome: a comprehensive review

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

Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects

(2013) J. Stockley et al.   BLOOD

ANKRD26-related thrombocytopenia and myeloid malignancies

(2013) P. Noris et al.   BLOOD

Congenital Thrombocytopenia

(2013) Riten Kumar et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations

(2013) Alessandro Pecci et al.   HUMAN MUTATION

GFI1Bmutation causes a bleeding disorder with abnormal platelet function

(2013) W. S. Stevenson et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Reduced intensity transplantation for congenital amegakaryocytic thrombocytopenia: Report of a case and review of the literature

(2013) Gary Woods et al.   PEDIATRIC TRANSPLANTATION

First Successful Use of Eltrombopag Before Surgery in a Child With MYH9-Related Thrombocytopenia

(2013) R. Favier et al.   PEDIATRICS

Ethical and Policy Issues in Genetic Testing and Screening of Children

(2013) et al.   PEDIATRICS

Lentiviral Hematopoietic Stem Cell Gene Therapy in Patients with Wiskott-Aldrich Syndrome

(2013) A. Aiuti et al.   SCIENCE

Inherited thrombocytopenias

(2012) C. L. Balduini et al.   Hamostaseologie

Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes

(2012) Jane E. Churpek et al.   LEUKEMIA & LYMPHOMA

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

(2012) Cornelis A Albers et al.   NATURE GENETICS

Alteration of Liver Enzymes Is a Feature of the Myh9-Related Disease Syndrome

(2012) Alessandro Pecci et al.   PLoS One

Short-term eltrombopag for surgical preparation of a patient with inherited thrombocytopenia deriving from MYH9 mutation

(2012) Serena Barozzi et al.   THROMBOSIS AND HAEMOSTASIS

Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2

(2011) Tommaso Pippucci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome

(2011) P. Nurden et al.   BLOOD

Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study

(2011) D. Moratto et al.   BLOOD

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families

(2011) P. Noris et al.   BLOOD

Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias

(2011) Carlo L. Balduini et al.   BRITISH JOURNAL OF HAEMATOLOGY

Two patterns of thrombopoietin signaling suggest no coupling between platelet production and thrombopoietin reactivity in thrombocytopenia-absent radii syndrome

(2011) J. Fiedler et al.   HAEMATOLOGICA

Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIb  (Bolzano mutation)

(2011) P. Noris et al.   HAEMATOLOGICA

Familial myelodysplastic syndromes: a review of the literature

(2011) E. Liew et al.   HAEMATOLOGICA

Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome

(2011) Walter HA Kahr et al.   NATURE GENETICS

Inherited Thrombocytopenia Due toGATA-1Mutations

(2011) Patrick Millikan et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Platelet-Type Von Willebrand Disease: A Rare, Often Misdiagnosed and Underdiagnosed Bleeding Disorder

(2011) Maha Othman   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Glanzmann Thrombasthenia-Like Syndromes Associated with Macrothrombocytopenias and Mutations in the Genes Encoding the αIIbβ3 Integrin

(2011) Alan Nurden et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Thrombocytopenia-Absent Radius Syndrome

(2011) Helga Toriello   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Congenital Amegakaryocytic Thrombocytopenia: Clinical Presentation, Diagnosis, and Treatment

(2011) Matthias Ballmaier et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options

(2010) M. H. Albert et al.   BLOOD

Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations

(2010) A. Pecci et al.   BLOOD

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

(2010) M. Gunay-Aygun et al.   BLOOD

Clinical spectrum, pathophysiology and treatment of the Wiskott–Aldrich syndrome

(2010) Michael H Albert et al.   CURRENT OPINION IN HEMATOLOGY

Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations

(2010) A. Savoia et al.   HAEMATOLOGICA

Patients with Epstein–Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease

(2010) Takashi Sekine et al.   KIDNEY INTERNATIONAL

Jacobsen syndrome

(2009) Teresa Mattina et al.   Orphanet Journal of Rare Diseases

MYH9-Related Platelet Disorders

(2009) Karina Althaus et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Mutation of the  1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly

(2008) S. Kunishima et al.   BLOOD

Clinical benefit of recombinant factor VIIa in management of bleeds and surgery in two brothers suffering from the Bernard-Soulier syndrome

(2008) K. L. TEFRE et al.   HAEMOPHILIA

A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia

(2008) Ian M Morison et al.   NATURE GENETICS

Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome)

(2008) A. Pecci et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION