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

A homosexual man, seropositive for human immunodeficiency virus, developed back and leg pain that evolved, over three weeks, into a T-10 anesthetic, areflexic paraplegia. Spinal fluid examination showed lymphocytosis, markedly elevated spinal fluid protein, and hypoglycorrhachia. A spinal cord biopsy specimen disclosed an intramedullary granuloma containing acid-fast bacilli. The patient was treated with antituberculous drugs and had no progression of neurologic deficit. He died, eight months after first becoming ill, of Klebsiella pyelonephritis and septicemia. Mycobacterial meningomyelitis is presently the only known acquired immunodeficiency syndrome-related myelopathy responsive to specific treatment.
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PMID:Mycobacterial meningomyelitis associated with human immunodeficiency virus infection. 274 40

Contemporary Bartonella quintana infections have emerged in diverse regions of the world, predominantly involving socially disadvantaged persons. Available data suggest that the human body louse Pediculus humanus is the vector for transmission of B. quintana. Descriptions of the clinical manifestations associated with contemporary B. quintana infections have varied considerably and include asymptomatic infection, a relapsing febrile illness, headache, leg pain, "culture-negative" endocarditis, and, in human immunodeficiency virus-infected persons, bacillary angiomatosis. Laboratory diagnosis is most convincing when B. quintana is isolated in blood culture, but growth often takes 20-40 days; problems exist with both sensitivity and specificity of serological assays. On the basis of available information, use of doxycycline, erythromycin, or azithromycin to treat B. quintana infections is recommended. Treatment of uncomplicated B. quintana bacteremia for 4-6 weeks and treatment of B. quintana endocarditis (in a person who does not undergo valve surgery) for 4-6 months are recommended, with the addition of a bactericidal agent (such as a third-generation cephalosporin or an aminoglycoside) during the initial 2-3 weeks of therapy for endocarditis.
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PMID:Bartonella quintana and urban trench fever. 1091 10

Pyomyositis (PM) is a common masquerading disease that is frequently misdiagnosed. A concurrent state of immunodeficiency is observed in up to 75% of tropical PM cases. PM in systemic lupus erythaematosus (SLE) is a relatively rare disease. I report a case of PM that was caused byKlebsiella pneumoniaein a patient with SLE who presented with leg pain, fever and a lupus flare-up. The patient was correctly diagnosed using a CT scan. Immediate surgical drainage was performed, and empirical antibiotics were administered. The patient was discharged while in a recovering condition. The clinical features, the results of radiographic investigations and the management of PM in SLE are synopsised in this article to underscore the importance of considering this relatively rare disease during differential diagnosis in patients with SLE with muscle pain with or without fever. I also emphasise the need to exclude mycobacterial infection in patients with SLE with PM.
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PMID:Pyomyositis in a patient with systemic lupus erythaematosus and a review of the literature. 2709 May 46

Deficiency of adenosine deaminase 2 (DADA2) is a rare autoinflammatory disease that was firstly described in patients with early-onset strokes, livedo reticularis, and periodic fever resembling polyarteritis nodosa. In reported case series, researchers described highly variable manifestations, including autoimmunity, immunodeficiency, hepatosplenomegaly, pancytopenia, ichthyosiform rash, and arthritis, in patients with DADA2. A thirteen-year-old female patient who was born to consanguineous parents was admitted to our hospital with generalized edema and leg pain. A physical examination revealed splenomegaly and left knee arthritis. Nephrotic-range proteinuria and hypoalbuminemia were present, and a renal biopsy revealed amyloidosis. Despite the absence of periodic fever and livedo reticularis, our patient had suggestive features of DADA2, including low serum immunoglobulin G and immunoglobulin M levels, hepatosplenomegaly, and renal amyloidosis. We found a heterozygote Met694Val mutation in the Mediterranean fever gene and a novel homozygote Thr317Argfs*25 (c.950-950delCys) mutation in the cat eye chromosome region 1 gene. A functional analysis revealed absent plasma adenosine deaminase 2 activity. Canakinumab was administered because of unresponsive proteinuria despite 2 months of treatment with colchicine and methylprednisolone. Proteinuria improved after 7 doses of canakinumab. In conclusion, DADA2 should be considered in the differential diagnosis of renal amyloidosis, particularly in the absence of homozygote Mediterranean fever mutations. Although anti-tumor necrosis factor agents are widely offered in DADA2 treatment, we speculate that canakinumab may be an appropriate treatment of renal amyloidosis in DADA2.
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PMID:Renal Amyloidosis in Deficiency of Adenosine Deaminase 2: Successful Experience With Canakinumab. 3037 39