To the Editors: The classification of pulmonary hypertension (PH) has recently been updated and PH associated with haematological disorders is classified as category V [1]. T-cell large granular lymphocytes (LGLs) are a morphologically distinct subset of normal peripheral blood mononuclear cells classified into two major lineages based on the presence of the CD3 receptor: CD3+ lymphocytes and CD3- natural killer cells. The revised European-American classification of lymphoid neoplasms [2] considers clonal proliferation of these cells, or LGL leukaemia (as proved by a cytogenetic study of the rearrangement of the T-cell receptor), as a distinct type of peripheral T-cell neoplasm. In the vast majority of cases, LGL leukaemia has a CD3+, αβ+, CD4-, CD8+, CD16+, CD57+ and CD56- phenotype and an indolent course [3]. Overexpression of some natural killer receptors (NKRs) of the killer immunoglobulin-like receptor family, such as CD94 and CD158b, is sometimes observed [4–6]. T-cell LGL leukaemia is frequently associated with various autoimmune diseases, particularly rheumatoid arthritis (30% of cases) and haematological disorders ( e.g. neutropenia) [3]. PH associated with T-cell LGL leukaemia has been described in rare cases and an aetiopathological link between the diseases has been suggested [4–8]. In this context, the efficacy of immunosuppressive agents in association with standard treatment (oral anticoagulants±diuretics±oxygen) with or without vasodilatory drugs has been investigated [4, 6, 7]. Herein, we describe a new case of PH associated with T-cell LGL leukaemia that responded to immunosuppressive therapy. Possible aetiopathological mechanisms are discussed on the basis of literature data. A 50-yr-old female without significant medical history was admitted to hospital because of rapidly progressive New York Heart Association (NYHA) functional class …

CD16

Immunophenotyping

10.1183/09031936.00014811

Cite

Citations (9)

Transplantation cardiopulmonaire et mucoviscidose. Indications et résultats

Archives de Pédiatrie (1996)

A. Haloun Philippe Despins D. Horeau M Threilhaud D Portier

10.1016/0929-693x(96)86399-8

Cite

Citations (0)

SUN-P010: Nutritional Status and Early Nutritional Support After Lung Transplantation in Patients with Cystic Fibrosis: a Single Center, Preliminary Report

Clinical Nutrition (2017)

A. Jirka Dominique Darmaun Thierry Lepoivre A. Haloun Isabelle Danner‐Boucher

Single Center

Center (category theory)

10.1016/s0261-5614(17)30616-7

Cite

Citations (0)

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

Journal of Medical Genetics (2013)

Christel Thauvin‐Robinet À. Munck Frédéric Huet Alix de Becdelièvre Clément Jimenez

The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutation p.Arg117His in patients with congenital bilateral absence of the vas deferens (CBAVD) and in newborns screened for CF has created a dilemma.Phenotypic and genotypic data were retrospectively collected in 179 non-newborn French individuals carrying p.Arg117His and a second CFTR mutation referred for symptoms or family history, by all French molecular genetics laboratories, referring physicians, CF care centres and infertility clinics.97% of the patients had the intronic T7 normal variant in cis with p.Arg117His. 89% patients were male, with CBAVD being the reason for referral in 76%. In 166/179 patients with available detailed clinical features, final diagnoses were: four late-onset marked pulmonary disease, 83 isolated CBAVD, 67 other CFTR-related phenotypes, including 44 CBAVD with pulmonary and/or pancreatic symptoms and 12 asymptomatic cases. Respiratory symptoms were observed in 30% of the patients, but the overall phenotype was mild. No correlation was observed between sweat chloride concentrations and disease severity. Five couples at risk of CF offspring were identified and four benefited from prenatal or preimplantation genetic diagnoses (PND or PGD). Eight children were born, including four who were compound heterozygous for p.Arg117His and one with a severe CF mutation.Patients with CBAVD carrying p.Arg117His and a severe CF mutation should benefit from a clinical evaluation and follow-up. Depending on the CBAVD patients' genotype, a CFTR analysis should be considered in their partners in order to identify CF carrier couples and offer PND or PGD.

Compound heterozygosity

Medical genetics

Obstructive azoospermia

10.1136/jmedgenet-2012-101427

Cite

Citations (29)

Acute hepatitis C virus infection: hospital or community-acquired infection?

Journal of Hospital Infection (2011)

C. Bourigault Virginie Naël Elisabeth Garnier Marianne Coste‐Burel Stéphane Chevaliez

Hepatitis C

Hepatitis E Virus

10.1016/j.jhin.2011.06.004

Cite

Citations (1)

Pulmonary Arterial Hypertension in France

American Journal of Respiratory and Critical Care Medicine (2006)

Marc Humbert Olivier Sitbon Ari Chaouat M. Bertocchi Gilbert Habib

Rationale: Pulmonary arterial hypertension (PAH) is an orphan disease for which the trend is for management in designated centers with multidisciplinary teams working in a shared-care approach.Objective: To describe clinical and hemodynamic parameters and to provide estimates for the prevalence of patients diagnosed for PAH according to a standardized definition.Methods: The registry was initiated in 17 university hospitals following at least five newly diagnosed patients per year. All consecutive adult (⩾ 18 yr) patients seen between October 2002 and October 2003 were to be included.Main Results: A total of 674 patients (mean ± SD age, 50 ± 15 yr; range, 18–85 yr) were entered in the registry. Idiopathic, familial, anorexigen, connective tissue diseases, congenital heart diseases, portal hypertension, and HIV-associated PAH accounted for 39.2, 3.9, 9.5, 15.3, 11.3, 10.4, and 6.2% of the population, respectively. At diagnosis, 75% of patients were in New York Heart Association functional class III or IV. Six-minute walk test was 329 ± 109 m. Mean pulmonary artery pressure, cardiac index, and pulmonary vascular resistance index were 55 ± 15 mm Hg, 2.5 ± 0.8 L/min/m2, and 20.5 ± 10.2 mm Hg/L/min/m2, respectively. The low estimates of prevalence and incidence of PAH in France were 15.0 cases/million of adult inhabitants and 2.4 cases/million of adult inhabitants/yr. One-year survival was 88% in the incident cohort.Conclusions: This contemporary registry highlights current practice and shows that PAH is detected late in the course of the disease, with a majority of patients displaying severe functional and hemodynamic compromise.

Cardiac index

10.1164/rccm.200510-1668oc

Cite

Citations (1,927)