No abstract available.
Common Variable Immunodeficiency* ; Humans

A 19-year-old Filipino male presents with recurrent respiratory tract symptoms every 4 to 5 months since childhood and sudden onset of diabetes type 1 with ketoacidosis. He had patchy hair loss which started at 7 years old, and was diagnosed with alopecia universalis. Thyroid antibodies and 21-hydroxylase antibody were normal. Common Variable Immunodeficiency with Polyglandular Autoimmune Syndrome IV was considered. The patient is on monthly intravenousimmunoglobulin therapy and basal bolus insulin regimen.
Common Variable Immunodeficiency ; Diabetes Mellitus

No abstract available.
Common Variable Immunodeficiency* ; Cytomegalovirus Infections* ; Cytomegalovirus* ; Immune System Diseases

No abstract available.
Common Variable Immunodeficiency* ; Lymphoma, T-Cell* ; T-Lymphocytes*

Common Variable Immunodeficiency/genetics* ; Humans ; Janus Kinase 3/genetics* ; Mutation ; Severe Combined Immunodeficiency

PURPOSE: Selective immunoglobulin A deficiency (IgAD) is the most common primary immunodeficiency disease. The aim of the present study is to analyze clinical manifestations and immunological characteristics of selective IgAD in children. METHODS: Twenty-one children aged 1-14 years with the serum IgA level of 2 standard deviation (2 SD) below normal for age who had recurrent infection were enrolled in this study at Uijeongbu St. Mary's Hospital of the Catholic University of Korea, between January 2006 and August 2007. Recurrent infection was defined as the presence of at least 6 febrile infection episodes per year before this study. Among IgA deficient patients, we excluded panhypogammaglobulinemic patients. RESULTS: The average frequency of admission was 2.2+/-2.0 per year. The most common causative disease at admission was lower respiratory infection (53.6%). Immunoglobulin G (IgG) subclass deficiency was corcurrent in 9 patients (42.9%): deficiency of IgG2 in 1, IgG3 in 5, IgG4 in 1 and IgG3+IgG4 in 2. Five patients (23.8%) had a decrease in CD3+ cells and 8 patients (38%) had a decrease in CD4+ cells. One patient progressed to common variable immunodeficiency (CVID). Serum IgA levels of 76.5% of the patients increased to 2 SD above normal for age after 15.9+/-4.5 months. CONCLUSION: The patients with IgAD in this study showed frequent respiratory and gastrointestinal infections and combined with other immunodeficiencies including IgG subclass deficiency. Our data suggest that it is necessary to examine the immunological status including IgA level in patients with frequent infections and that those with IgAD should be observed for the potential progression to CVID.
Aged ; Child ; Common Variable Immunodeficiency ; Humans ; IgA Deficiency ; Immunoglobulin A ; Immunoglobulin G ; Korea

This paper describes the first case of common variable immunodeficiency (CVID) and AA amyloidosis. A recently treated tuberculosis, and chronic inflammation induced by frequent respiratory tract infections, were thought to be responsible for the amyloidosis. No other reason for this condition could be detected. Although T cell dysfunction in some CVID patients has been reported, pulmonary tuberculosis is quite rare with this condition. Bacterial or viral agents or evidence in favour of intestinal tuberculosis, which would explain this patient's recurrent diarrhea, were not found. In this case, the response of the attacks of diarrhea to metranidazole and the histologic observation of extensive intestinal amyloid deposition, which is known to decrease intestinal motility, made us conclude that the diarrhea was associated with bacterial overgrowth. In this report, we discuss the association of CVID and tuberculosis to secondary amyloidosis and recurrent diarrhea.
Tuberculosis/*complications ; Male ; Humans ; Diarrhea/etiology ; Common Variable Immunodeficiency/*complications ; Amyloidosis/*etiology/pathology ; Adult

PURPOSE: To quantify the health related quality of life in primary immunodeficiency patients. MATERIALS AND METHODS: We used generic health status and general psychological health questionnaires to determine the range of issues that needed to be considered in examining the burden of common variable immunodeficiency (CVID). RESULTS: The health status of patients with CVID was lower than that observed in normal subjects. Overall, Role-Physical and General Health scales correlated with a poorer clinical status. Surprisingly, the duration of disease did not influence health status. Being female, older, General Health Questionnaire-positive and alexithymic proved to be major risk factors associated with a poor health status. Patients with chronic lung disease and chronic diarrhea had the lowest values on the Medical Outcome Study, Short Form SF-36 (SF-36) scales. Disease severity perception was associated with the General Health Questionnaire and alexithymia status. Limitations in daily activities as a result of lower physical health were the major problems facing common variable immunodeficiency patients. CONCLUSION: Our data underlined the importance of conducting a periodical health related quality of life assessment on patients with primary antibody deficiencies and, moreover, stressed the necessity of providing psychological support to at risk patients.
Chronic Disease ; Common Variable Immunodeficiency/*physiopathology ; Female ; Health Status ; Humans ; Male ; *Quality of Life ; Questionnaires

Common variable immunodeficiency (CVID) is the most common symptomatic primary antibody deficiency syndrome and has a high prevalence of gastrointestinal complications. We report the case of a 36-year-old male with CVID who presented with chronic intractable diarrhea and malabsorption. A comprehensive evaluation revealed no secondary causes of his symptoms. He was treated symptomatically without improvement. After receiving systemic steroid treatment, his symptoms improved, but returned soon after tapering the steroid. When he was subsequently administered oral budesonide, his symptoms and quality of life improved; this effect lasted for 20 months without unacceptable side effects.
Adult ; Budesonide* ; Common Variable Immunodeficiency* ; Diarrhea* ; Humans ; Immunologic Deficiency Syndromes ; Male ; Prevalence ; Quality of Life

OBJECTIVETo promote the awareness of common variable immunodeficiency (CVID).

METHODSReport two cases of CVID and review related literature.

RESULTSThe two CVID patients were manifested recurrent infections of respiratory and digestive tract, splenomegaly, significantly reduced serum immunoglobulin, since adolescence. They were treated with intravenous gammaglobulin, anti-infection and symptomatic therapies and the diseases were well controlled. Case 1 was diagnosed as with spleen peripheral T cell lymphoma after splenectomy. Case 2 developed nutritional megaloblastic anemia resulting from repeated digestive tract infections.

CONCLUSIONCVID is a heterogeneous group of diseases with later-onset, characterized by hypogammaglobulinemia and recurrent bacterial infections. Early diagnosis and regular treatment may improve the prognosis.