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Query: UNIPROT:Q06643 (non-Hodgkin's lymphoma)
 11,307 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Common variable immunodeficiency (CVI) is a primary immunodeficiency characterized by deficient antibody production. The cause of this immunodeficiency is unknown; several in vitro studies have revealed a significant number of alterations that could explain the hypogammaglobulinemia present in this syndrome. Among those described are primary B cell alterations, numerical and functional T cell abnormalities, and defects in the interaction between accessory cells. The alteration typical of CVI is the failure of B lymphocytes to differentiate from antibody-producing cells, resulting in deficient immunoglobulin secretion. Among the T cell abnormalities described are a diminished proliferative response to mitogens and antigens, alterations in the level of production of several cytokines, especially reduction in the production of IL-2, diminished antigen-specific T cells and increase basal apoptosis after stimulation. Antigen presenting cells, monocytes and dendritic cells can also present alterations and contribute to deficient antigen response. The clinical manifestations of these patients is variable; most present recurrent bacterial infections due to encapsulated bacteria, especially sinusitis, otitis, bronchitis, and pneumonias. A few patients can present mycobacterial or fungal infection and occasionally Pneumocystis carinii. Viral infection is uncommon in these patients although some suffer recurrent herpes zoster infection. Clinical features of septicemia and central nervous system infections are less frequent. The incidence of digestive tract infections in these patients is high. The most common cause of diarrhea is Giardia lamblia; Salmonella, Shigella and Campylobacter are also common pathogens. Autoimmune disease is also more prevalent in these patients than in the general population. The most frequently associated diseases are hemolytic anemia, idiopathic thrombocytopenic purpura and autoimmune neutropenia. Cancer is also frequently associated with CVI, the most common forms being lymphoproliferative syndromes, especially non-Hodgkin's lymphoma. Granulomas are a unusual manifestation in some patients with CVI; their localization varies but the most commonly affected organs are the spleen and lungs. Some authors have compared these granulomas with those characterizing sarcoidosis, especially when appearing in the lung. Diagnosis of CVI is usually by exclusion of other diseases, such as cystic fibrosis, immotile cilia syndrome or allergic processes. CVI should be suspected in all patients with recurrent bacterial infections especially those localized in the respiratory tract. Other primary immunodeficiencies which present clinical findings similar to CVI and which should be ruled out are selective IgG subclass deficiency, IgA deficiency and selective deficiency in the response to polysaccharide antigens with normal immunoglobulin levels. The serum hypogammaglobulinemia present in all patients with CVI provides the diagnostic key. The age at which clinical manifestations appear, the absence of familial antecedents and the presence of circulating B lymphocytes form the basis of the differential diagnosis between X-linked agammaglobulinemia and autosomal recessive forms. The treatment of choice of patients with CVI is treatment with human gamma-globulin. Currently, the most common route of administration is intravenous; these molecules have a half-life of approximately 21 days and a high degree of safety concerning the possible transmission of viral infections. Adverse reactions are generally few and clinically unimportant. The most frequently used doses oscillate between 200 and 400 mg/kg body weight every 2-4 weeks. Both the dose and its frequency should be personalized for each patient. Early diagnosis of patients with CVI, application of treatment with appropriate antibiotics for infections and treatment with gamma-globulins prevent long-term complications of this disease and dramatically improve the quality of life and life expectancy of these patients.
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PMID:[Common variable immunodeficiency. Review]. 1143 84

Acral erythema limited to the fingers or the hands has been described in systemic disease. We report the case of a 17-year-old patient who had undergone lung transplantation for cystic fibrosis. Six weeks after transplantation, rapidly growing large-cell immunoblastic non-Hodgkin's lymphoma of the lungs and mediastinum was diagnosed. Sharply demarcated, painless, glovelike erythema was found on both hands. Therapy was reduction of immunosuppression and 12 cycles of extracorporeal photophoresis. After 4 months, lymphoma was in clinical and radiologic remission. Bilateral erythema of the hands also had disappeared. Acral erythema has been reported in association with chemotherapy, collagen vascular disease, infections as with HIV, hepatitis C virus, parvovirus B19, or cytomegalovirus. None of the described associations were detected in this case.
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PMID:Painless erythema of the hands associated with non-Hodgkin's lymphoma in a lung transplant recipient. 1200 1

Primary immunodeficiency disorders pose a diagnostic dilemma for physicians in the developing countries such as Pakistan because of lack of adequate diagnostic facilities. We present here the case of a 17-year-old girl who had a history of recurrent respiratory tract infections since childhood and had been treated with anti-tuberculous medications thrice; for a total of 24 months. She had also received multiple courses of antibiotics. Her initial presentation to our hospital was with acute bronchopneumonia. Her past medical history of recurrent infections also alerted the treating physician to the possibility of bronchiectasis secondary to a variety of underlying potential pathologies such as post-infection, immunodeficiency syndromes or ciliary dyskinesia disorders. Cystic fibrosis was also an important consideration. Direct enquiry revealed that there was no history of consanguineous marriage in her parents. Her sweat chloride test was within normal range (<40 mmol/L). Blood analysis was performed which showed IgA, IgG2 and IgG4 deficiency. She has been following up at our hospital for the past few years. In that course of time, she has had multiple episodes of pneumonia, gastroenteritis and maxillary sinusitis. She was successfully treated with intravenous immunoglobulins on four occasions when she presented with systemic crisis secondary to severe systemic infection. She also developed biopsy proven intermediate grade non-Hodgkin's lymphoma five years after the diagnosis of immunoglobulin deficiency was first made. This appeared to be a complication of her immunodeficient state. She has been receiving chemotherapy for the lymphoma. Physicians should be cognizant of the morbidity that primary immunodeficiency syndromes such as immunoglobulin deficiency can have in the form of multiple infections and increased risk of malignancies as seen in our patient.
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PMID:Primary IgA and IgG subclass deficiency in a 17-year-old Pakistani girl: a case report. 1991 43

Cystic fibrosis (CF) carriers carrying one defective copy of a CFTR germline mutation are common in the general population. A recent study reported associations of CF carriers with risk for cancers of digestive organs and pancreatic cancer. In the current study, we assessed associations of CFTR F508del carriers with the risk for 54 types of cancers in the UK Biobank, a large population-based study. In Caucasians, compared to the carrier rate of 3.15% (12,357/392,274) in non-cancer subjects, the rate was significantly higher in cancer patients overall (2,621/79,619=3.29%), especially in patients with colorectal cancer (247/6,667=3.70%), cancers of gallbladder and biliary tract (21/351=5.98%), thyroid cancer (30/665=4.51%), and unspecified non-Hodgkin's lymphoma (74/1,805=4.10%), all P<=0.05. In contrast, the carrier rate in patients with cancers of lung and bronchus was significantly lower (89/3,463=2.57%), P=0.05. The association of CFTR F508del carriers with these types of cancer remained significant after adjusting for respective cancer-specific risk factors. For pancreatic cancer, although a higher carrier rate (38/1,004=3.78%) was found in patients with this cancer, the difference was not statistically significant (P=0.26). This null association was unlikely due to lack of statistical power; the large sample size of our study had >80% power, at a significance level of 0.05, to detect an association of >1.5-fold increased risk. In conclusion, the identified associations of CFTR F508del carriers with multiple types of cancer may have potential biological and clinical implications if confirmed in independent study populations. This article is protected by copyright. All rights reserved.
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PMID:Cystic Fibrosis F508del Carriers and Cancer Risk: Results from the UK Biobank. 3330 Jun 3