The histiocytoses are a group of rare proliferative disorders derived from dendritic cells and macrophages. The prognosis is variable, ranging from benign lesions though chronic debilitating illness to rare true malignant disorders. Diagnosis is by clinical features, histology including morphology and immunohistochemistry, and recently in haemophagocytic lymphohistiocytosis, using molecular dia...

PURPOSE To describe our experience in infants with partial albinism and immunodeficiency (PAID), a rare, recently recognized, probably autosomal recessive disorder. PATIENTS AND METHODS Five infants suffering from this disease were examined with CT of the brain and four of these patients also underwent MR. Four of the five children also underwent follow-up CT or MR exams. RESULTS Three of t...

OBJECTIVE To determine the oncologic impact of prospectively assigned tertiary pattern 4 in contemporary Gleason score (GS) 3 + 3 = 6 radical prostatectomy (RP) specimens. PATIENTS AND METHODS Oncologic outcomes were retrospectively reviewed for 720 consecutive patients from a single National Comprehensive Cancer Network (NCCN) center with at least 6 months follow-up after RP for GS3 + 3 = 6 ...

EDITORIAL Hemophagocytic lymphohistiocytosis as a possible cause of prolonged fever, splenomegaly, and cytopenia Linfohistiocitosis hemofagocítica como posible cause de fiebre prolongada, espelomegalia y citopenia Hyperinflammatory response may be one of the causes for a long-lasting unexplained fever in children and adults. 1 Clinical syndrome of the exaggerated inflammatory reaction is called...

The monomeric small GTPase Rab27a is specifically localized on both secretory granules and lysosome-related organelles. Although natural mutations of the Rab27a gene in human Griscelli syndrome and in ashen mice cause partial albinism and immunodeficiency reflecting the dysfunction of lysosome-related organelles, phenotypes resulting from the defective exocytosis of secretory granules have not ...

PURPOSE Rab27a belongs to the Rab small GTPase superfamily. The protein is membrane-bound and may be involved in protein transport and small GTPase-mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. However, the prognostic and molecular features of gliomas with Rab27a expression are still unclear. EXPERIMENTAL DESIGN We used a whole-genome mRNA...

Prieur, A. M., Bach, J. F., Griscelli, C., Judet, C., Ballet, J. J., Bach, C., and Mozziconacci, P. (1974). Archives of Disease in Childhood, 49, 438. Rheumatoid rosette in juvenile rheumatoid arthritis. The rheumatoid rosette test was performed in 159 children. Positive results were found more frequently in juvenile rheumatoid arthritis when more than four joints were involved. It is not to be...

The autosomal recessive immunodeficiencies Griscelli syndrome type 2 (GS2) and familial hemophagocytic lymphohistiocytosis type 3 (FHL3) are associated with loss-of-function mutations in RAB27A (encoding Rab27a) and UNC13D (encoding Munc13-4). Munc13-4 deficiency abrogates NK-cell release of perforin-containing lytic granules induced by signals for natural and antibody-dependent cellular cytoto...

Rab GTPases serve as master regulators of vesicular membrane transport on both the exo- and endocytic pathways. In their active forms, rab proteins serve in cargo selection and as scaffolds for the sequential assembly of effectors requisite for vesicle budding, cytoskeletal transport, and target membrane fusion. Rab protein function is in turn tightly regulated at the level of protein expressio...