Follicular bronchiolitis associated with common variable immunodeficiency.

LPS-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal IgM Phenotype and Low Number of B Cells.

LPS-Responsive Beige-like Anchor (LRBA) deficiency is a disease which has recently been described in a group of patients with common variable immunodeficiency (CVID) in association with autoimmunity and/or inflammatory bowel disease (IBD)-like phenotype. We here describe a 10-year-old boy who experienced recurrent infections, mainly in the respiratory system, associated with thrombocytopenia an...

Co-existence of Common Variable Immunodeficiency (CVID) with Idiopathic Thrombocytopenic purpura (ITP)

A 20-YEAR SURVEY OF INFECTIOUS COMPLICATIONS IN 64 PATIENTS WITH COMMON VARIABLE IMMUNODEFICIENCY

Common variable immunodeficiency (CV ID) is a heterogeneous primary immunodeficiency disorder, characterized by hypogammaglobulinemia and increased susceptibility to recurrent bacterial infections. To determine the spectrum of infectious complications in patients with common variable immunodeficiency (CV ID), we reviewed the hospital records of 64 CVID patients, who were diagnosed in Child...

Pulmonary complications in patients with antibody deficiency.

OBJECTIVE The aim of this study was to evaluate pulmonary complications in patients with primary antibody deficiency (X-linked agammaglobulinaemia [XLA] and common variable immunodeficiency [CVID]). METHODS Thirty patients over six years of age regularly followed in a reference out-patient clinic on primary immunodeficiency were studied. All of them have been treated with intravenous immunogl...

When less is more: primary immunodeficiency with an autoinflammatory kick

PURPOSE OF REVIEW Next-generation sequencing is revolutionizing the molecular taxonomy of human disease. Recent studies of patients with unexplained autoinflammatory disorders reveal germline genetic mutations that target important regulators of innate immunity. RECENT FINDINGS Whole-exome analyses of previously undiagnosed patients have catalyzed the recognition of two new disease genes. Fir...