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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.
TLDR
This consensus document standardizes the criteria for diagnosis of chronic graft-versus-host disease (GVHD) and proposes a new clinical scoring system (0-3) that describes the extent and severity of chronic GVHD for each organ or site at any given time, taking functional impact into account.
Topographical and Temporal Diversity of the Human Skin Microbiome
TLDR
This topographical and temporal survey of body sites from 10 healthy human individuals sampled over time provides a baseline for studies that examine the role of bacterial communities in disease states and the microbial interdependencies required to maintain healthy skin.
STAT3 mutations in the hyper-IgE syndrome.
TLDR
Mutations in STAT3 underlie sporadic and dominant forms of the hyper-IgE syndrome, an immunodeficiency syndrome involving increased innate immune response, recurrent infections, and complex somatic features.
Temporal shifts in the skin microbiome associated with disease flares and treatment in children with atopic dermatitis.
TLDR
Findings reveal linkages between microbial communities and inflammatory diseases such as AD, and demonstrate that as compared with culture-based studies, higher resolution examination of microbiota associated with human disease provides novel insights into global shifts of bacteria relevant to disease progression and treatment.
Combined immunodeficiency associated with DOCK8 mutations.
TLDR
Autosomal recessive DOCK8 deficiency is associated with a novel variant of combined immunodeficiency in patients who had recurrent sinopulmonary and cutaneous viral infections.
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.
TLDR
The present study shows that mutations in FH are associated with HLRCC in North America, and expands the histologic spectrum of renal tumors and FH mutations associated withHLRCC.
A diversity profile of the human skin microbiota.
TLDR
This study of healthy human skin microbiota will serve to direct future research addressing the role of skin microbiota in health and disease, and metagenomic projects addressing the complex physiological interactions between the skin and the microbes that inhabit this environment.
BHD mutations, clinical and molecular genetic investigations of Birt–Hogg–Dubé syndrome: a new series of 50 families and a review of published reports
TLDR
BHDS is characterised by a spectrum of mutations, and clinical heterogeneity both among and within families, and the first germline missense mutation in BHD c.1978A>G (K508R) is reported.
Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome.
TLDR
The Birt-Hogg-Dubé syndrome confers an increased risk for the development of renal tumors and spontaneous pneumothorax and was found to be associated with renal and colonic neoplasms and spontaneous pneumonia.
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