A genome sequencing program for novel undiagnosed diseases.

Purpose: The Scripps Idiopathic Diseases of Man (IDIOM) study aims to discover novel gene-disease relationships and provide molecular genetic diagnosis and treatment guidance for individuals with novel diseases using genome sequencing integrated with clinical assessment and multidisciplinary case review. Here we describe the operational protocol and initial results of the IDIOM study.

Methods: A total of 121 cases underwent first-tier review by the principal investigators to determine whether the primary inclusion criteria were satisfied, 59 (48.

Increased ILC2s in the eosinophilic nasal polyp endotype are associated with corticosteroid responsiveness.

Group 2 innate lymphoid cells (ILC2s) have recently been identified in human nasal polyps, but whether numbers of ILC2s differ by polyp endotype or are influenced by corticosteroid use is unknown. Here, we show that eosinophilic nasal polyps contained double the number of ILC2s vs. non-eosinophilic polyps.

A physical sciences network characterization of non-tumorigenic and metastatic cells.

To investigate the transition from non-cancerous to metastatic from a physical sciences perspective, the Physical Sciences-Oncology Centers (PS-OC) Network performed molecular and biophysical comparative studies of the non-tumorigenic MCF-10A and metastatic MDA-MB-231 breast epithelial cell lines, commonly used as models of cancer metastasis. Experiments were performed in 20 laboratories from 12 PS-OCs. Each laboratory was supplied with identical aliquots and common reagents and culture protocols.

Hairy cell leukemia: diagnostic pathology.

The pathology of HCL has been reviewed with a focus on the diagnostic hematopathology of this rare, but fascinating, disease. The discrimination of HCL from other B-cell lymphoproliferations, particularly HCL-V and SMZL, has been emphasized. The unique responsiveness of HCL to 2-CdA and other chemotherapeutic agents makes this distinction critical.

CD52 expression in hairy cell leukemia.

Hairy cell leukemia (HCL) is a rare chronic B-cell lymphoproliferative disorder characterized by splenomegaly, pancytopenia, and circulating atypical lymphocytes with circumferential cytoplasmic projections. Although uncommon, HCL cases refractory to standard therapy occur, and effective alternatives are limited. There is evolving literature supporting monoclonal antibody therapy in the treatment of B-cell lymphoid malignancies, including anti-CD52 (Campath-1H, alemtuzumab).

Hairy cell leukemia: an update.

Hairy cell leukemia is an indolent, chronic B-cell lymphoproliferative disorder comprising approximately 2 to 3% of all adult leukemias in the United States. Hairy cells are clonal expansions of mature, activated B-cells. They co-express CD11c, CD19, CD20, CD22, CD25, and CD103.

Pathology of hairy-cell leukaemia.

Hairy-cell leukaemia (HCL) is a low grade B-cell lymphoproliferative process that presents either with lymphocytosis or neutropenia/monocytopenia. It is a disease predominantly of bone marrow and spleen, although it can also involve other organs and sites. Recent advances including multi-parameter flow cytometry and the development of antibodies with high specificity for HCL have permitted precise distinction of typical HCL from other lymphoproliferative diseases that can morphologically mimic the appearance of HCL.