Towards the targeted management of Chediak-Higashi syndrome

Inherited defects in lymphocyte cytotoxic activity

(2015) Jana P. Schmid et al.   IMMUNOLOGICAL REVIEWS

Enhanced diacylglycerol production by phospholipase D activation is responsible for abnormal increase in concanavalin A cap formation in polymorphonuclear leukocytes from Chediak–Higashi syndrome (beige) mice

(2014) Hirotake Kasai et al.   INTERNATIONAL IMMUNOPHARMACOLOGY

Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation

(2014) H. Shimazaki et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Recombinant human thrombopoietin is an effective treatment for thrombocytopenia in hemophagocytic lymphohistiocytosis

(2013) Yini Wang et al.   ANNALS OF HEMATOLOGY

Chediak-Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype

(2013) Isabel Sánchez-Guiu et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Use of Recombinant Thrombomodulin in Disseminated Intravascular Coagulation Complicated Hemophagocytic Lymphohistiocytosis

(2013) Masaki Yamamoto et al.   INDIAN JOURNAL OF PEDIATRICS

Mixed hyperpigmentation and hypopigmentation of iris and choroid in Chediak-Higashi syndrome

(2013) Min-Chieh Ho et al.   JOURNAL OF AAPOS

Cognitive and psychosocial function post hematopoietic stem cell transplantation in children with hemophagocytic lymphohistiocytosis

(2013) Jessica Jackson et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Neutrophil Homeostasis and Periodontal Health in Children and Adults

(2013) E. Hajishengallis et al.   JOURNAL OF DENTAL RESEARCH

Chediak-Higashi Syndrome

(2013) Salem Al-Tamemi et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Chediak-Higashi syndrome: pathognomonic feature

(2013) Henedina Antunes et al.   LANCET

Hemophagocytic lymphohistiocytosis (HLH): a review of literature

(2013) Rohtesh S. Mehta et al.   MEDICAL ONCOLOGY

Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism

(2013) Vikas Bhambhani et al.   MOVEMENT DISORDERS

Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease

(2013) James D Weisfeld-Adams et al.   Orphanet Journal of Rare Diseases

Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism

(2013) Laura Dotta et al.   Orphanet Journal of Rare Diseases

Clinical characteristics and outcomes of chédiak-Higashi syndrome: A nationwide survey of Japan

(2013) Kozo Nagai et al.   PEDIATRIC BLOOD & CANCER

Accelerated Phase at Initial Presentation in Chédiak-Higashi Syndrome: Is It Really Uncommon ?

(2013) Smeeta Gajendra et al.   PEDIATRIC HEMATOLOGY AND ONCOLOGY

Graded Defects in Cytotoxicity Determine Severity of Hemophagocytic Lymphohistiocytosis in Humans and Mice

(2013) Birthe Jessen et al.   Frontiers in Immunology

Reduced-intensity conditioning in unrelated donor cord blood transplantation for familial hemophagocytic lymphohistiocytosis

(2012) Masanori Nishi et al.   AMERICAN JOURNAL OF HEMATOLOGY

A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes

(2012) Y. T. Bryceson et al.   BLOOD

Molecular determinants of platelet delta storage pool deficiencies: an update

(2012) Julien Masliah-Planchon et al.   BRITISH JOURNAL OF HAEMATOLOGY

Diagnostic evaluation of patients with suspected haemophagocytic lymphohistiocytosis

(2012) Kai Lehmberg et al.   BRITISH JOURNAL OF HAEMATOLOGY

Clinical manifestations and outcomes of pediatric chronic neutropenia

(2012) Chuan Wan et al.   JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION

Salvage therapy of refractory hemophagocytic lymphohistiocytosis with alemtuzumab

(2012) Rebecca A. Marsh et al.   PEDIATRIC BLOOD & CANCER

Common Management Issues in Pediatric Patients with Mild Bleeding Disorders

(2012) Sarah O'Brien   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome

(2011) B. Jessen et al.   BLOOD

How I treat hemophagocytic lymphohistiocytosis

(2011) M. B. Jordan et al.   BLOOD

Reduced-intensity conditioning haematopoietic cell transplantation for haemophagocytic lymphohistiocytosis: an important step forward

(2011) Rebecca A. Marsh et al.   BRITISH JOURNAL OF HAEMATOLOGY

A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome

(2011) Zuhre Kaya et al.   PEDIATRIC BLOOD & CANCER

Rituximab and cyclosporine therapy for accelerated phase Chediak-Higashi syndrome

(2011) Chikara Ogimi et al.   PEDIATRIC BLOOD & CANCER

The Enlarged Lysosomes in beigej Cells Result From Decreased Lysosome Fission and Not Increased Lysosome Fusion

(2011) Nina Durchfort et al.   TRAFFIC

Adult Chédiak-Higashi syndrome presenting as parkinsonism and dementia

(2010) E. Uyama et al.   ACTA NEUROLOGICA SCANDINAVICA

Reduced-intensity conditioning significantly improves survival of patients with hemophagocytic lymphohistiocytosis undergoing allogeneic hematopoietic cell transplantation

(2010) R. A. Marsh et al.   BLOOD

Accelerated Phase of Chediak Higashi Syndrome Mimicking Lymphoma—A Case Report

(2010) Ashwini R. Nargund et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Primary immunodeficiency diseases: a practical guide for clinicians

(2010) S E Turvey et al.   POSTGRADUATE MEDICAL JOURNAL

Patients with early relapse of primary hemophagocytic syndromes or with persistent CNS involvement may benefit from immediate hematopoietic stem cell transplantation

(2009) M Sparber-Sauer et al.   BONE MARROW TRANSPLANTATION

Molecular analysis and clinical aspects of four patients with Chédiak-Higashi syndrome (CHS)

(2009) E Scherber et al.   CLINICAL GENETICS

Chediak-Higashi syndrome

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

Improvement of deficient natural killer activity and delayed bactericidal activity by a thiol proteinase inhibitor, E-64-d, in leukocytes from Chediak–Higashi syndrome patients in vitro

(2009) Fuminori Tanabe et al.   INTERNATIONAL IMMUNOPHARMACOLOGY

Infection of T lymphocytes in Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in children of non-Asian origin

(2009) Karin Beutel et al.   PEDIATRIC BLOOD & CANCER