Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0021051 (immunodeficiency)
71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors describe three patients in whom septic arthritis of the sternoclavicular joint (SCJ) occurred, drug addiction and human immunodeficiency virus (HIV) infection representing the predisposing conditions. Infectious arthritis is well known in intravenous drug users, but it is rare in HIV positive patients, who are prone to bacterial infections from usual or unusual microorganisms. In one case, staphylococcus aureus methicillin sensitive was responsible for septic arthritis. In another case, SCJ infection was associated with pneumonitis.
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PMID:Isolated sternoclavicular joint arthritis in heroin addicts and/or HIV positive patients: three cases. 825 48

Several rheumatic diseases are associated with human immunodeficiency virus (HIV) infection. The most common are reactive and psoriatic arthritis. Classic septic arthritis caused by Staphylococcus aureus and other common organisms is very rare: Instead, infectious arthritis caused by unusual organisms is the rule. Some of the HIV-related rheumatic syndromes behave like classic rheumatic diseases, while others may actually be new forms of disease. Often, one of the rheumatic syndromes is the presenting manifestation of underlying HIV infection. HIV-infected patients and patients with rheumatic disease often have similar laboratory abnormalities. Systemic lupus erythematosus, in particular, may be mistaken for HIV infection, in part because of cross-reactivity of antibodies. However, coexistence of systemic lupus erythematosus and rheumatoid arthritis with HIV infection is a rare occurrence. Traditional therapy for rheumatic diseases may not be indicated in HIV-infected patients and in fact may even be contraindicated.
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PMID:Arthropathy and HIV infection. A muddle of mimicry. 850 73

Several rheumatic illnesses may develop in adults with primary or acquired immunologic defects. Individuals with primary defects in B-cell antibody production, such as common variable immunodeficiency of selective IgA deficiency, and those with defects of complement components, have an increased prevalence of systemic lupus erythematosus--like syndromes or other autoimmune diseases. Defects in immunoglobulin production may be complicated by inflammatory or infectious arthritis. Infection with HIV-1 may be associated with diverse rheumatic conditions, including diffuse infiltrative lymphocytosis syndrome, myopathies, vasculitides, inflammatory arthritides, and infectious musculoskeletal complications. An approach to these disorders that takes into consideration the underlying mechanism of disease is presented. Appropriate strategies aimed at treatment of the underlying immunodeficiency may improve the clinical course of the associated rheumatic disorder.
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PMID:Adult immunodeficiency and rheumatic disease. 890 65

The X-linked agammaglobulinemia (XLA) is a rare immunodeficiency, characterized by absence or accentuated diminuition of all the isotypes of serum immunoglobulins and greater susceptibility to infections, mainly after the sixth mouth of life. The authors present nine patients bearers of XLA, with recurrent infectious processes (pneumonias 7/9, otitis 7/9, sinusitis 5/9, sepsis 5/9, diarrheas 3/9, infectious arthritis 3/9, meningitis 3/9, pyodermitis 3/9, viral encephalitis 1/9), with the beginning of symptoms on average in a nine months life. The laboratory examination showed absence of antibody response, with normal cellular immunity. The patients received immunoglobulin with control of the infectious processes. Five children received prophylactic antibiotic therapy for sinusitis control. The precocious diagnosis of XLA is of extreme importance, with institution of therapy with intravenous immunoglobulin for reduction in infectious process occurrence and complications, besides improving the patient's life quality.
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PMID:[X-linked agammaglobulinemia in nine patients: review of the literature]. 956 69

Musculoskeletal infection is one of the common manifestations of patients infected with human immunodeficiency virus and acquired immunodeficiency syndrome. With immune deficiency, patients are susceptible to a variety of nonopportunistic and opportunistic infections that can result in significant morbidity and mortality. Infection can involve any anatomical compartments resulting in infectious arthritis, osteomyelitis, pyomyositis, and soft tissue and skin infection. Imaging plays an important role in the early diagnosis and treatment planning for these patients. This article reviews the clinical manifestations of musculoskeletal infection together with reported causative organisms. We discuss the role of imaging and present radiological examples.
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PMID:Musculoskeletal infection in acquired immunodeficiency syndrome. 2208 Dec 88

We report on pediatric patient with Nijmegen breakage syndrome (NBS), a rare DNA repair disorder characterized by microcephaly, immunodeficiency and predisposition to malignant lymphomas, who developed juvenile idiopathic arthritis (JIA)-like polyarthritis. In patients with primary immunodeficiencies (PID), septic arthritis due to pyogenic bacteria or mycoplasmal arthritis are the most common osteoarticular manifestations. In certain PID, chronic, non-infectious arthritis resembling rheumatoid arthritis may occur. In our patient microbiologic cultures of synovial fluid including Mycoplasma spp. were negative. At first, because of suspected mycoplasmal arthritis we used macrolides and doxycycline combined with hydroxychloroquine but without therapeutic response. However, the use of rituximab led to remission of her polyarthritis lasting for 9 months. Autoimmune features were rarely reported in NBS. An occurrence of JIA-like, chronic polyarthritis in NBS, a DNA repair disorder characterized by decreased tolerance of immunosuppressive drugs such as methotrexate and a high natural risk for lymphomas, makes therapeutic approach even more complex.
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PMID:Nijmegen breakage syndrome and chronic polyarthritis. 2404 22

We report, to the best of our knowledge, the first case of a child with typical ataxia telangiectasia (A-T) who developed juvenile idiopathic arthritis (JIA). The patient was a 15-year-old boy with A-T who presented with noninfectious polyarthritis. A-T is a rare, autosomal recessive disorder characterized by cerebellar atrophy, oculocutaneous telangiectasia, immunodeficiency, radiosensitivity, and predisposition to cancer. The gene responsible for A-T is the A-T mutated (ATM) gene. Clinical manifestations of the disorder are the result of lacking ATM protein, which is involved in DNA repair, apoptosis, various checkpoints in the cell cycle, gene regulation, translation, initiation, and telomere maintenance. There are a few articles that describe deficiency of the DNA repair enzyme, ATM, in rheumatoid arthritis, but the connection between the absence of ATM protein and JIA has not been presented or studied yet. JIA is a heterogeneous group of diseases characterized by arthritis of unknown origin with onset before the age of 16 years. It is the most common childhood chronic rheumatic disease and causes significant disability. Because immunodeficiency can be part of A-T, infectious arthritis can occur, but chronic autoimmune arthritis in these patients is rare. We report a rare case of a 15-year-old boy with A-T and JIA. This case shows a possible relationship between altered function of ATM protein and the pathogenesis of JIA.
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PMID:Ataxia Telangiectasia and Juvenile Idiopathic Arthritis. 2808 6