Common variable immunodeficiency disorder (CVID) is the commonest cause of primary antibody failure in adults and children, and characterized clinically by recurrent bacterial infections and autoimmune manifestations. Several innate immune defects have been described in CVID, but no study has yet investigated the frequency, phenotype or function of the key regulatory cell population, natural ki...

We describe a patient with a history of longstanding primary generalised epilepsy, on anticonvulsant therapy, who presented with fever, headache, worsening seizures and hallucinations. Among various investigations, the patient had high CSF protein and ACE levels, leptomeningeal nodular enhancement on MRI brain and non-caseating granulomas in the brain and meninges on the biopsy. The patient was...

Recent data suggest a critical role for dendritic cells (DCs) in the generation of immunoglobulin-secreting plasma cells. In the work reported herein, we analyzed the frequency of peripheral blood plasmacytoid DCs (pDCs) and myeloid DCs (mDCs) in a cohort of 44 adults with common variable immunodeficiency (CVID) classified according to their CD27 membrane expression status on B cells. A deep al...

Lymphoid interstitial pneumonitis (LIP) is a rare clinicopathological entity that may be associated with common variable immune deficiency (CVID) and may lead to respiratory failure and death. Some patients may respond to prolonged corticosteroid treatment. We hypothesised that, in view of the predominant T cell nature of LIP, cyclosporin A would be a more appropriate choice of immunosuppressiv...

C ommon variable immune deficiency (CVID) is the most frequent symptomatic primary immune deficiency in adults with a prevalence of approximately 1 in 25,000 in the general population [1]. Indeed patients frequently become symptomatic later in life; however, their clinical history may reveal features of the disease dating back to early childhood. The disorder is characterized by recurrent and/o...

Common variable immunodeficiency (CVID) and IgA deficiency (IgAD) are primary humoral immune deficiencies with a similar genetic background, but clinical and laboratory manifestation of CVID is much more severe than that of IgAD. The aim of this study was to determine whether some abnormalities in T-lymphocyte subsets or function observed in CVID are also present in IgAD patients. T-lymphocyte ...

Whole exome sequencing (WES) has proven an effective tool for the discovery of genetic defects in patients with primary immunodeficiencies (PIDs). However, success in dissecting the genetic etiology of common variable immunodeficiency (CVID) has been limited. We outline a practical framework for using WES to identify causative genetic defects in these subjects. WES was performed on 50 subjects ...

Background: Common variable immunodefi ciency (CVID) is a heterogeneous group of disorders, characterized by decreased immunoglobulin levels in serum and increased susceptibility to recurrent infections, autoimmunity, and malignancy. The pathogenesis of CVID is still unknown. Objectives: This study was performed to investigate T-helper (TH) 1 and 2 cytokine levels in patients with CVID. Materia...

In common variable immunodeficiency (CVID) defects in early stages of B-cell development, bone marrow (BM) plasma cells and T lymphocytes have not been studied systematically. Here we report the first morphologic and flow cytometric study of B- and T-cell populations in CVID BM biopsies and aspirates. Whereas the hematopoietic compartment showed no major lineage abnormalities, analysis of the l...

Antibody deficiencies constitute the majority of primary immunodeficiencies in adults. These patients have a well-established increased risk bacterial infections but there is lack knowledge regarding relative risks upon contracting COVID-19. In this monocentric study disease course COVID-19 1 patient with Good's syndrome and 13 common variable immunodeficiency (CVID) described. The severity ran...