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National Institutes of Health consensus development project on criteria for clinical trials in chronic graft-versus-host disease: I. Diagnosis and staging working group report.
- A. Filipovich, D. Weisdorf, +23 authors M. Flowers
- Biology of blood and marrow transplantation…
This consensus document is intended to serve 3 functions. First, it standardizes the criteria for diagnosis of chronic graft-versus-host disease (GVHD). Second, it proposes a new clinical scoring… Expand
Topographical and Temporal Diversity of the Human Skin Microbiome
The Close and Personal Biome Fortunately, our skin is readily accessible for ecological studies of the microbial communities that influence health and disease states. Grice et al. (p. 1190) present a… Expand
STAT3 mutations in the hyper-IgE syndrome.
- S. Holland, F. DeLeo, +22 authors B. Grimbacher
- The New England journal of medicine
- 18 October 2007
BACKGROUND The hyper-IgE syndrome (or Job's syndrome) is a rare disorder of immunity and connective tissue characterized by dermatitis, boils, cyst-forming pneumonias, elevated serum IgE levels,… Expand
Combined immunodeficiency associated with DOCK8 mutations.
- Q. Zhang, Jeremiah Davis, +9 authors H. Su
- The New England journal of medicine
- 10 December 2009
BACKGROUND Recurrent sinopulmonary and cutaneous viral infections with elevated serum levels of IgE are features of some variants of combined immunodeficiency. The genetic causes of these variants… Expand
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.
- J. Toro, M. Nickerson, +14 authors B. Zbar
- Biology, Medicine
- American journal of human genetics
- 1 July 2003
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder characterized by smooth-muscle tumors of the skin and uterus and/or renal cancer. Although the identification… Expand
BHD mutations, clinical and molecular genetic investigations of Birt–Hogg–Dubé syndrome: a new series of 50 families and a review of published reports
Background: Birt–Hogg–Dubé syndrome (BHDS) (MIM 135150) is an autosomal dominant predisposition to the development of follicular hamartomas (fibrofolliculomas), lung cysts, spontaneous pneumothorax,… Expand
Temporal shifts in the skin microbiome associated with disease flares and treatment in children with atopic dermatitis.
Atopic dermatitis (AD) has long been associated with Staphylococcus aureus skin colonization or infection and is typically managed with regimens that include antimicrobial therapies. However, the… Expand
Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome.
Birt-Hogg-Dubé (BHD) syndrome is a rare inherited genodermatosis characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax. Recombination mapping in BHD families… Expand
A diversity profile of the human skin microbiota.
The many layers and structures of the skin serve as elaborate hosts to microbes, including a diversity of commensal and pathogenic bacteria that contribute to both human health and disease. To… Expand
Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome.
- B. Zbar, W. Alvord, +13 authors W. Linehan
- Cancer epidemiology, biomarkers & prevention : a…
- 1 April 2002
The Birt-Hogg-Dubé syndrome, a genodermatosis characterized by benign tumors of the hair follicle, has been associated with renal and colonic neoplasms and spontaneous pneumothorax, but the risk of… Expand