The future of cystic fibrosis care: a global perspective
Executive summary The past six decades have seen remarkable improvements in health
outcomes for people with cystic fibrosis, which was once a fatal disease of infants and young …
outcomes for people with cystic fibrosis, which was once a fatal disease of infants and young …
Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases
I Aksentijevich, O Schnappauf - Nature Reviews Rheumatology, 2021 - nature.com
Monogenic autoinflammatory diseases are a group of rheumatologic disorders caused by
dysregulation in the innate immune system. The molecular mechanisms of these disorders …
dysregulation in the innate immune system. The molecular mechanisms of these disorders …
Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis
YH Park, EF Remmers, W Lee, AK Ombrello… - Nature …, 2020 - nature.com
Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by homozygous
or compound heterozygous gain-of-function mutations in MEFV, which encodes pyrin, an …
or compound heterozygous gain-of-function mutations in MEFV, which encodes pyrin, an …
Lack of clear and univocal genotype‐phenotype correlation in familial Mediterranean fever patients: A systematic review
Familial Mediterranean fever (FMF) is the most common autosomal recessive
autoinflammatory disease. To date, following the isolation of more than 280 MEFV sequence …
autoinflammatory disease. To date, following the isolation of more than 280 MEFV sequence …
Familial Mediterranean fever and COVID-19: friends or foes?
Familial Mediterranean Fever (FMF) and COVID-19 show a remarkable overlap of clinical
symptoms and similar laboratory findings. Both are characterized by fever, abdominal/chest …
symptoms and similar laboratory findings. Both are characterized by fever, abdominal/chest …
Autoinflammatory disease with focus on NOD2-associated disease in the era of genomic medicine
Q Yao, E Li, B Shen - Autoimmunity, 2019 - Taylor & Francis
Systemic autoinflammatory diseases (SAIDs) represent a spectrum of genetically
heterogeneous inflammatory disorders. Some SAID-associated genes are located in …
heterogeneous inflammatory disorders. Some SAID-associated genes are located in …
[PDF][PDF] Features predicting colchicine efficacy in treatment of children with undefined systemic autoinflammatory disease: a retrospective cohort study
Objective: Patients with undefined systemic autoinflammatory diseases (uSAIDs) are
challenging to manage, as there are no guidelines or recommendations for targeted therapy …
challenging to manage, as there are no guidelines or recommendations for targeted therapy …
Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern Italy
A Di Ciaula, M Iacoviello, L Bonfrate, M Khalil… - European Journal of …, 2023 - Elsevier
Abstract Familial Mediterranean Fever (FMF) is linked with the MEFV gene and is the
commonest among monogenic autoinflammatory diseases, with high prevalence in the …
commonest among monogenic autoinflammatory diseases, with high prevalence in the …
The lancet respiratory medicine commission on the future of care of cystic fibrosis
The past six decades have seen remarkable improvements in health outcomes for people
with cystic fibrosis (CF), which was once a fatal disease of infants and young children …
with cystic fibrosis (CF), which was once a fatal disease of infants and young children …
From genomes to genomic medicine: enabling personalized and precision medicine in the Middle East
PV Jithesh, V Scaria - Personalized Medicine, 2017 - Taylor & Francis
The MENA region is characterized by a high burden of genetic diseases. A number of
genetic diseases have been characterized for the first time in the region. Reports suggest …
genetic diseases have been characterized for the first time in the region. Reports suggest …