Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity

SLAM Family Receptors and SAP Adaptors in Immunity

(2011) Jennifer L. Cannons et al.   Annual Review of Immunology

Gene expression profiling of peripheral blood mononuclear cells from children with active hemophagocytic lymphohistiocytosis

(2011) J. Sumegi et al.   BLOOD

An International Consensus Survey of Diagnostic Criteria for Macrophage Activation Syndrome in Systemic Juvenile Idiopathic Arthritis

(2011) S. DAVI et al.   JOURNAL OF RHEUMATOLOGY

Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2

(2010) M. Meeths et al.   BLOOD

X-linked lymphoproliferative syndromes: brothers or distant cousins?

(2010) A. H. Filipovich et al.   BLOOD

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

(2010) R. A. Marsh et al.   BLOOD

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)

(2010) J. P. Schmid et al.   BLOOD

XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease

(2010) R. A. Marsh et al.   BLOOD

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

(2010) C. Booth et al.   BLOOD

Killer Ig-like receptor-mediated control of natural killer cell alloreactivity in haploidentical hematopoietic stem cell transplantation

(2010) L. Moretta et al.   BLOOD

correspondence: A novel assay for investigation of suspected familial haemophagocytic lymphohistiocytosis

(2010) Rachel D. Wheeler et al.   BRITISH JOURNAL OF HAEMATOLOGY

The synapse and cytolytic machinery of cytotoxic T cells

(2010) Misty R Jenkins et al.   CURRENT OPINION IN IMMUNOLOGY

Molecular basis of familial hemophagocytic lymphohistiocytosis

(2010) V. Cetica et al.   HAEMATOLOGICA

Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency

(2010) Rebecca A. Marsh et al.   JOURNAL OF IMMUNOLOGICAL METHODS

Contemporary diagnostic methods for hemophagocytic lymphohistiocytic disorders

(2010) Theodore S. Johnson et al.   JOURNAL OF IMMUNOLOGICAL METHODS

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5

(2010) V. Cetica et al.   JOURNAL OF MEDICAL GENETICS

Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2

(2010) Norihiko Ohbayashi et al.   Pigment Cell & Melanoma Research

Subtypes of Familial Hemophagocytic Lymphohistiocytosis in Japan Based on Genetic and Functional Analyses of Cytotoxic T Lymphocytes

(2010) Kozo Nagai et al.   PLoS One

How do SAP family deficiencies compromise immunity?

(2010) Zhongjun Dong et al.   TRENDS IN IMMUNOLOGY

Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11

(2009) Udo zur Stadt et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phenotypic differences between mice deficient in XIAP and SAP, two factors targeted in X-linked lymphoproliferative syndrome (XLP)

(2009) Julie M. Rumble et al.   CELLULAR IMMUNOLOGY

Familial hemophagocytic lymphohistiocytosis: clinical and neuroradiological findings and review of the literature

(2009) Norma Decaminada et al.   CHILDS NERVOUS SYSTEM

Chediak-Higashi syndrome

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

UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis

(2009) H. S. Yoon et al.   HAEMATOLOGICA

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

(2009) Marjorie Côte et al.   JOURNAL OF CLINICAL INVESTIGATION

Griscelli syndrome: a model system to study vesicular trafficking

(2009) Mireille Van Gele et al.   Pigment Cell & Melanoma Research

Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics

(2008) Marjan Huizing et al.   Annual Review of Genomics and Human Genetics

Mutations of the hemophagocytic lymphohistiocytosis–associated geneUNC13D in a patient with systemic juvenile idiopathic arthritis

(2008) Melissa M. Hazen et al.   ARTHRITIS AND RHEUMATISM

Characterization ofPRF1,STX11andUNC13Dgenotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis

(2008) AnnaCarin Horne et al.   BRITISH JOURNAL OF HAEMATOLOGY

Frequency and spectrum of central nervous system involvement in 193 children with haemophagocytic lymphohistiocytosis

(2008) AnnaCarin Horne et al.   BRITISH JOURNAL OF HAEMATOLOGY

Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3

(2008) A. Santoro et al.   HAEMATOLOGICA

Analysis of RAB27A Gene in Griscelli Syndrome type 2: Novel Mutations Including a Deletion Hotspot

(2008) Setareh Mamishi et al.   JOURNAL OF CLINICAL IMMUNOLOGY