Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

DN Cooper, M Krawczak, C Polychronakos… - Human genetics, 2013 - Springer
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

[HTML][HTML] Familial Mediterranean fever—a review

M Shohat, GJ Halpern - Genetics in Medicine, 2011 - Elsevier
Familial Mediterranean fever is inherited in an autosomal recessive manner. There are two
phenotypes: types 1 and 2. Familial Mediterranean fever type 1 is characterized by recurrent …

Whole-exome sequencing reveals mutations in genes linked to hemophagocytic lymphohistiocytosis and macrophage activation syndrome in fatal cases of H1N1 …

GS Schulert, M Zhang, N Fall, A Husami… - The Journal of …, 2016 - academic.oup.com
Abstract Background. Severe H1N1 influenza can be lethal in otherwise healthy individuals
and can have features of reactive hemophagocytic lymphohistiocytosis (HLH). HLH is …

Rilonacept for colchicine-resistant or-intolerant familial Mediterranean fever: a randomized trial

PJ Hashkes, SJ Spalding, EH Giannini… - Annals of internal …, 2012 - acpjournals.org
Chinese translation This article has been corrected. The original version (PDF) is appended
to this article as a Supplement. Background: Currently, there is no proven alternative therapy …

Clinical, molecular, and genetic characteristics of PAPA syndrome: a review

EJ Smith, F Allantaz, L Bennett, D Zhang… - Current …, 2010 - ingentaconnect.com
PAPA syndrome (Pyogenic Arthritis, Pyoderma gangrenosum, and Acne) is an autosomal
dominant, hereditary auto-inflammatory disease arising from mutations in the …

Familial Mediterranean fever in Japan

K Migita, R Uehara, Y Nakamura, M Yasunami… - Medicine, 2012 - journals.lww.com
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease that is
prevalent in Mediterranean populations. While it is considered a rare disease in the rest of …

Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and …

D Kishida, A Nakamura, M Yazaki… - Arthritis Research & …, 2014 - Springer
Abstract Introduction Familial Mediterranean fever (FMF) is a hereditary autoinflammatory
disease characterized by recurrent self-limiting fever and serositis that mainly affects …

Genetics of monogenic autoinflammatory diseases: past successes, future challenges

I Aksentijevich, DL Kastner - Nature Reviews Rheumatology, 2011 - nature.com
The term autoinflammation was initially coined to distinguish disorders characterized by
recurrent episodes of inflammation in the absence of high-titer autoantibodies and antigen …

Familial Mediterranean fever: genotype-phenotype correlations in Japanese patients

K Migita, K Agematsu, M Yazaki, F Nonaka… - Medicine, 2014 - journals.lww.com
Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by
MEditerranean FeVer gene (MEFV) mutations. In Japan, patients with FMF have been …

Familial Mediterranean fever is no longer a rare disease in Japan

K Migita, Y Izumi, Y Jiuchi, N Iwanaga… - Arthritis research & …, 2016 - Springer
Background The aim of this study was to evaluate the clinical manifestations and prevalence
of familial Mediterranean fever (FMF) in Japanese patients with unexplained fever and …