Late-onset combined immune deficiency: a subset of common variable immunodeficiency with severe T cell defect

…, A Bérezné, R Nove-Josserand… - Clinical Infectious …, 2009 - academic.oup.com
Background. Common variable immunodeficiency (CVID) is a primary immune deficiency
defined by defective antibody production. In most series, a small proportion of patients present …

The French compassionate programme of elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis with advanced lung disease and no F508del CFTR variant

…, J Languepin, R Nove-Josserand… - European …, 2023 - Eur Respiratory Soc
Background The European Medicines Agency has approved the cystic fibrosis transmembrane
conductance regulator (CFTR) modulator combination elexacaftor/tezacaftor/ivacaftor (…

Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies

…, M Munzer, B Neven, R Nove-Josserand… - Journal of Allergy and …, 2017 - Elsevier
Background Primary immunodeficiencies (PIDs) are inherited diseases associated with a
considerable increase in susceptibility to infections. It is known that PIDs can also predispose …

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

…, J Leclerc, D Hubert, R Nové-Josserand… - Journal of medical …, 2009 - jmg.bmj.com
Background: Cystic fibrosis (CF) is caused by compound heterozygosity or homozygosity of
CF transmembrane conductance regulator gene (CFTR) mutations. Phenotypic variability …

Repaglinide versus insulin for newly diagnosed diabetes in patients with cystic fibrosis: a multicentre, open-label, randomised trial

…, L Kessler, L Weiss, R Nove-Josserand… - The Lancet Diabetes & …, 2018 - thelancet.com
Background As survival among patients with cystic fibrosis has improved in recent decades,
complications have become increasingly relevant. The most frequent complication is cystic-…

Sleep quality and nocturnal hypoxaemia and hypercapnia in children and young adults with cystic fibrosis

…, M Murris-Espin, R Nove-Josserand… - Archives of disease in …, 2012 - adc.bmj.com
Objectives The aim of the study was to evaluate sleep quality and nocturnal gas exchange
in patients with cystic fibrosis (CF) and to assess if sleep quality and daytime lung function …

Using chest computed tomography and unsupervised machine learning for predicting and evaluating response to lumacaftor–ivacaftor in people with cystic fibrosis

…, Q Reynaud, R Nove-Josserand… - European …, 2022 - Eur Respiratory Soc
Objectives Lumacaftor–ivacaftor is a cystic fibrosis transmembrane conductance regulator (CFTR)
modulator known to improve clinical status in people with cystic fibrosis (CF). The aim …

Activated phosphoinositide 3-kinase δ syndrome: update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

…, B Neven, A Nieters, R Nove-Josserand… - Journal of Allergy and …, 2023 - Elsevier
Background Activated phosphoinositide-3-kinase δ syndrome (APDS) is an inborn error of
immunity (IEI) with infection susceptibility and immune dysregulation, clinically overlapping …

Risk of thrombosis with anti-phospholipid syndrome in systemic lupus erythematosus treated with thrombopoietin-receptor agonists

Z Guitton, L Terriou, JC Lega, R Nove-Josserand… - …, 2018 - academic.oup.com
Objectives The use of thrombopoietin-receptor agonists (TPO-RAs) has increased as a
second-line therapy in ITP, but the efficacy and safety of such drugs has not been evaluated in …

Protective effect of IgM against colonization of the respiratory tract by nontypeable Haemophilus influenzae in patients with hypogammaglobulinemia

…, F Dulieu, F Monpoux, R Nové-Josserand… - Journal of allergy and …, 2012 - Elsevier
BACKGROUND: Primary immunoglobulin deficiencies lead to recurrent bacterial infections
of the respiratory tract and bronchiectasis, even with adequate immunoglobulin replacement …