Chronic Diarrhea as a Presenting Manifestation of Common Variable Immunodeficiency
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Abstract:
: Common variable immunodeficiency (CVID) is one of the primary immunodeficiencies, which usually presents with recurrent bacterial infections, particularly in respiratory and gastrointestinal systems and hypogammaglobulinemia. We present here a case of CVID who was suffering from chronic watery diarrhea since 3 months before admission. Past medical history was uneventful about recurrent infections. No abnormality was revealed on physical examination. After thorough investigations about other possible causes of chronic diarrhea, and based on laboratory data of hypogammaglobuliemia, we considered him as a case of CVID with an isolated manifestation.Keywords:
Common Variable Immunodeficiency
Hypogammaglobulinemia
Abnormality
Primary Immunodeficiency
Chronic diarrhea
Medical History
Introduction Classification of immunodeficiency Clinical features of immunodeficiency Investigation of immunodeficiency Laboratory investigation Major B-lymphocyte disorders Rare antibody deficiency syndromes X-linked agammaglobulinaemia (Bruton’s disease) Common variable immunodeficiency (CVID) CVID 2: complications and treatment Selective IgA deficiency IgG subclass deficiency Specific antibody deficiency with normal serum immunoglobulins...
Common Variable Immunodeficiency
Primary Immunodeficiency
Selective IgA deficiency
Immunodeficiency Syndrome
IgA deficiency
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Hypogammaglobulinemia
Common Variable Immunodeficiency
Primary Immunodeficiency
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Common variable immunodeficiency (CVID) is a primary immunological disease characterized predominantly by hypogammaglobulinemia. The main clinical manifestations are severe recurrent infections that often lead to structural damage of affected organs. The early start of adequate intravenous immunoglobulin therapy has significantly improved the prognosis of this serious disorder. Patients with CVID are also predisposed to autoimmune and lymphoproliferative complications. This article deals with the features of this primary immunodeficiency in adults. Clinical manifestations, immunological features and treatment concepts were gathered during 21 years of observation of such patients in Moscow. The authors suggest early predictive clinical signs of CVID in adults.
Common Variable Immunodeficiency
Hypogammaglobulinemia
Primary Immunodeficiency
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Common variable immunodeficiency (CVID) or acquired hypogammaglobulinemia is the type of primary immunodeficiency. Deregulation of the immune system, leading to hypogammaglobulinemia, defective activation and proliferation of T cells and dendritic cells, and malfunction of the cytokines are observed in CVID. The clinical picture of CVID varies, any organ or system can be affected, therefore the diagnosis is often difficult and delayed and sometimes is not always possible. This article describes a twelve years old boy with all the clinical signs of immunodeficiency, as confi rmed by laboratory. The main treatment consists of life-long immunoglobulin substitution in intravenous or subcutaneous form.
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Common Variable Immunodeficiency
Primary Immunodeficiency
Immunologic Deficiency Syndromes
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Common variable immunodeficiency disorders (CVID) are the most common form of symptomatic primary immunodeficiency. The diagnosis of CVID can be challenging as the symptoms are non-specific and heterogenous in nature. In light of this, a broad review of this disease is presented here based on the important clinical symptoms, complications and management.
Common Variable Immunodeficiency
Primary Immunodeficiency
Immunodeficiency Syndrome
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Hypogammaglobulinemia
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Immunologic Deficiency Syndromes
IgA deficiency
Common Variable Immunodeficiency
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Common Variable Immunodeficiency
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Primary Immunodeficiency
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This is the first case of NBAS disease detected by NBS for primary immunodeficiency. NBS with KRECs is revealing unknown potentialities detecting conditions that benefit from early recognition like NBAS deficiency. Immune phenotyping should be mandatory in patients with NBAS deficiency since they can exhibit severe immunodeficiency with hypogammaglobulinemia as the most frequent finding. Fever during infections is a known trigger of acute liver failure in this syndrome, so immune dysfunction, should never go unnoticed in NBAS deficiency in order to start adequate therapy and prophylaxis.
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Primary Immunodeficiency
Immunodeficiency Syndrome
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The most prevalent form of primary immunodeficiency with a total defect of antibody production in adults is common variable immunodeficiency (CVID). Compared to other forms of primary immunodeficiency, CVID is characterized by later onset of clinical manifestations represented by infectious, autoimmune and malignant diseases. To avoid development of complications and patient incapacitation, it is necessary to make an early diagnosis and initiate regular replacement therapy with intravenous immunoglobulins.
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Primary Immunodeficiency
Immunodeficiency Syndrome
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Common variable immunodeficiency is the most frequent among all primary immunodeficiencies and is characterized by decrease of immunoglobulin secretion which causes the extent of clinical presentation of the disease. In 17-70% of patients with common variable immunodeficiency, lymphoid hyperplasia of organs of gastrointestinal tract is revealed due to which these patients come into the view of gastroenterologists. The article describes clinical observation of a patient with small intestinal involvement in common variable immunodeficiency.
Common Variable Immunodeficiency
Primary Immunodeficiency
Lymphoid hyperplasia
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