Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0031350 (pharyngitis)
 2,405 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical and diagnostic features of 29 adult patients with H. influenzae septic arthritis are reviewed. Twelve men and 17 women ranging in age from 22 to 82 years developed the infection. H. influenzae septic arthritis is an acute, febrile disease with a mean duration of symptoms before diagnosis of 4 days. Fifteen patients had monoarticular arthritis, 6 with an infected knee. Polyarticular involvement, with a range of 2 to 9 joints, was diagnosed in 14 patients. Nineteen patients had concurrent extraarticular sites of infection, including meningitis, pneumonia, pharyngitis, sinusitis, conjunctivitis, and cellulitis. Twenty-two of 29 patients had predisposing factors for infection, including ethanolism, trauma, rheumatoid arthritis, systemic lupus erythematosus, diabetes mellitus, splenectomy, multiple myeloma, lymphoma, gout, and acquired common variable hypogammaglobulinemia. Characteristic synovial fluid findings included purulent, greenish fluid, elevated WBC count, and gram-negative pleomorphic microorganisms. Treatment for these patients included antibiotic therapy, most often ampicillin and chloramphenicol, and joint drainage by repeated arthrocentesis or arthrotomy. A favorable outcome was reported in 25 of 29 patients. Hemophilus influenzae septic arthritis should be suspected in adults who are immunocompromised and have a concurrent extraarticular source of infection.
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PMID:Hemophilus influenzae septic arthritis in adults. A report of four cases and a review of the literature. 348 37

Primary immunodeficiencies with selective susceptibility to EBV infection are rare conditions associated with severe lymphoproliferation. We followed a patient, son of consanguineous parents, referred to our center for recurrent periodic episodes of fever associated with tonsillitis and adenitis started after an infectious mononucleosis and responsive to oral steroid. An initial diagnosis of periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome was done. In the following months, recurrent respiratory infections and episodes of keratitis were also observed, together with a progressive reduction of immunoglobulin levels and an increase of CD20+ cells. Cell sorting and EBV PCR showed 25,000 copies for 100,000 leukocytes with predominant infection of B lymphocytes. Lymph node's biopsy revealed reactive lymphadenopathy with paracortical involvement consistent with a chronic EBV infection. Molecular analysis of XIAP, SHA2D1A, ITK, and CD27 genes did not detect any pathogenic mutation. The patients underwent repeated courses of anti-CD20 therapy with only a partial control of the disease, followed by stem cell transplantation with a complete normalization of clinical and immunological features. Whole exome sequencing of the trio was performed. Among the variants identified, a novel loss of function homozygous c.163-2A>G mutation of the CD70 gene, affecting the exon 2 AG-acceptor splice site, fit the expected recessive model of inheritance. Indeed, deficiency of both CD27, and, more recently, of its ligand CD70, has been reported as a cause of EBV-driven lymphoproliferation and hypogammaglobulinemia. Cell surface analysis of patient-derived PHA-T cell blasts and EBV-transformed lymphoblastoid cell lines confirmed absence of CD70 expression. In conclusion, we describe a case of severe chronic EBV infection caused by a novel mutation of CD70 presenting with recurrent periodic fever.
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PMID:CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever. 2943 83