Common variable immune deficiency, central diabetes insipidus, and anemia

常见变异型免疫缺陷、中枢性尿崩症和贫血

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Abstract

Common variable immune deficiency (CVID) accounts for approximately 20% of all cases of primary immune deficiencies, and is characterized by low serum levels of IgG, IgA, and/or IgM. The diagnosis is usually made between 20 and 40 years of age, sometimes earlier. CVID patients are divided into two major groups based on complications observed: 1 group consists of patients with predominant infections, and 2 group includes patients with inflammatory and/or hematological complications, such as lymphadenopathy, splenomegaly, autoimmune cytopenia, enteropathy, and/or granulomatous conditions. The most prevalent gastrointestinal symptom is transitory or persistent diarrhea. Central diabetes insipidus (CDI) is a rare disease associated with decreased synthesis or release of antidiuretic hormone that leads to an excessive production of diluted urine (polyuria). Different factors can lead to the development of CDI, including autoantibodies to arginine vasopressin-producing cells. Celiac disease is an autoimmune condition affecting small intestine in genetically predisposed individuals, which can be associated with endocrinopathies. Here, we describe a patient with CVID, CDI, gluten-sensitive diarrhea, and anemia of combined type (thalassemia minor and B12-deficiency anemia).

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