Features of the course of chronic spontaneous urticaria in patients with Common variable immune deficiency and hypogammaglobulinemia.

Chronic spontaneous urticaria is a common disease that can be associated with various autoimmune, infectious (viral, bacterial, parasitic) and non-infectious inflammatory diseases, as well as occur in the symptom complex of other diseases, such as primary immunodeficiencies (PID). Currently, data about the features of the course of chronic spontaneous urticaria in patients with PID are accumulating. In this article we present two clinical cases of patients with common variable immune deficiency and one clinical case of a patient with hypogammaglobulinemia, suffering from chronic spontaneous urticaria. The article describes peculiar properties of IVIG replacement therapy at the course of urticaria in these patients. The discussion section presents data from the world literature and offers key provisions for further investigations.

A case of Common Variable Immune Deficiency with Lung disease- Not Just Bronchiectasis

Introduction: Common Variable Immune Deficiency (CVID) is the most prevalent form of severe antibody deficiency in children and in adults. Most patients have recurrent infections, mainly sinopulmonary infections. Despite adequate IVIG replacement therapy chronic lung disease continues to be a main cause of morbidity and mortality. The term granulomatous-lymphocytic interstitial lung disease (GLILD) is frequently used to described the Interstitial lung disease associated with immune dysregulation in primary antibody deficiency such as CVID. Aim: To describe a 10-year-old boy with CVID who developed GLILD and his response to treatment with Rituximab. Discussion: Although GLILD is a well described condition that accompanies CVID as a manifestation of immune dysregulation, it is still under recognized, especially in the pediatric population. Among experts, there is little uniformity when it comes to diagnostic and treatment approaches. Recent studies showed improved outcomes when using combination therapy with Rituximab, such as in our case presentation. Statement of Novelty: This report discusses a case of CVID in a 10-year-old boy, with no genetic diagnosis, whose lung functions and general condition continued to deteriorate despite adequate IGRT and MMF treatment. After the diagnosis of GLILD we initiated treatment with a 4-dose weekly course of Rituximab with prompt resolution of his interstitial disease. In our case we shed light on GLILD, an important condition that accompanies CVID and demonstrate an excellent response to Rituximab-a steroid sparing agent, which is a crucial aspect when considering therapeutic choices for the pediatric population.

Republican registry of primary immune deficiencies in the chuvash republic and description of postvaccinal immunity disorders in a pregnant patient with common variable immune deficiency

In recent years, primary immunodeficiencies have turned from the class of rare diseases to the category of more common disorders which may be encountered by doctors of any clinical discipline. The first case of primary immunodeficiency disorder (PID) in Chuvashia was detected in 1993. Since that time, the Department of Internal Diseases with the Course of Clinical Immunology at the I. Ulyanov Chuvash State University registered all the cases of PID diagnosed in the region, introducing them into the Republican Registry of PID. The study was aimed for searching epidemiological indexes, clinical and laboratory manifestations of PID in Chuvash region. The study was based on the patient data obtained by retrospective analysis of 85 case histories of PID patients, treated at different departments of the Republican Clinical Hospital, and the City Chuvash Pediatric Clinical Hospital of Public Health Ministry in 2000-2019, as well as on 49 outpatient records of the patients included into the Regional PID Registry. Various forms of PIDs were diagnosed according to the criteria developed by the European Society for Immunodeficiency and the Pan-American Group on Immunodeficiency (1999). The results of this study showed that the incidence of PID in the Chuivash Region is 3.4:100,000. The incidence of common variable immune deficiency (CVID), the most common form of PID in the region, was 1.58 per 100,000 population. The average age at the time of CVID diagnosis in Chuvash patients was 30.4±16.1 years, and the age of CVID debut was 11.3±15.0 years. The delay in proper diagnosis from the moment of clinical manifestation of CVID was, on average, 17.9 years in the region. At the time of CVID diagnosis, the patients showed marked decrease in the levels of 3 or 2 immunoglobulin classes (IgG and IgA), and T-helper cell contents (CD3+CD4+) in peripheral blood. Prevalence of selective IgA deficiency with сlinical symptoms was 0.83 per 100,000 population of the region, and the incidence of the asymptomatic form of this PID was 1 : 167. In patients with selective IgA deficiency, there were also disorders in the T cell system manifesting as decreased relative number of cytotoxic T-cells as well as elevated IgG and IgM levels. The age of diagnosis of X-linked agammaglobulinemia in the region was 3.5±3.0 years. In addition to disturbances of humoral adaptive immunity in children with this disease, a decrease in absolute T cell numbers was detected. In conclusion, the article describes disturbances of postvaccinal immunity in a pregnant patient with CVID, with asymptomatic clinical course, thus leading to false interpretation of the serological markers of TORCH infections and wrong strategy of pregnancy management.

Acute pericarditis: A peculiar manifestation of common variable immune deficiency

Common variable immune deficiency (CVID) is known as the most prevalent symptomatic inborn error of immunity associated with autoimmune and inflammatory complications in addition to recurrent infections. In this study, we investigated the prevalence of acute pericarditis as a complication in the past medical history of 337 CVID patients. We found five patients (1.5%) that had experienced acute pericarditis, and described the medical history of three patients.

Rare CVID-like phenotype of autoimmune lymphoproliferative syndrome

Autoimmune lymphoproliferative syndrome is a primary immunodeficiency caused by defective FAS-mediated apoptosis and usually accompanied by hypergammaglobulinemia. Yet some exceptions take place in the cohort of patients that complicated timely diagnosis, in particular, some symptoms may resemble common variable immune deficiency. In this article, we describe the patient with rare case of agammaglobulinemia and genetically confirmed autoimmune lymphoproliferative syndrome. The patient's parents agreed to use the information, including the child's photo, in scientific research and publications.

Bronchiectasis severity correlates with outcome in patients with primary antibody deficiency

Bronchiectasis is a well-recognised complication of primary antibody deficiency (PAD) syndromes. Previous data suggest that mortality in common variable immune deficiency (CVID) is not associated with isolated bronchiectasis. A retrospective analysis of patients with CVID and specific antibody deficiency in two tertiary referral centres with lung disease was conducted. Severity of bronchiectasis at presentation was associated with mortality. Lower FEV1, colonisation with Pseudomonas aeruginosa and a diagnosis of COPD were also associated with mortality. Bronchiectasis is an important driver of mortality in patients with PAD syndromes.