Cases reported "Infection"

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11/70. Identification of anti-herpes simplex virus antibody-producing B cells in a patient with an atypical RAG1 immunodeficiency.

    Mutations of the RAG1 or RAG2 protein that eliminate their recombination activity result in T-B-severe combined immunodeficiency (SCID), whereas mutations retaining partial recombination activity lead to Omenn syndrome, a peculiar SCID characterized by increased host T cells and absence of circulating B cells. The prognosis of this disease is fatal, unless hematopoietic stem cell transplantation is performed. This study reports a case of atypical SCID, carrying RAG1 mutations. The patient survived for 6 years without hematopoietic stem cell transplantation. The missense mutation, tested by in vivo recombination assay, revealed residual recombination activity. By the age of 5 years, the patient developed host B cells, but not T cells, possibly due to engrafted maternal T cells. In addition, the host B cells were able to produce antibodies, including anti-herpes simplex virus-antibodies. The fact that host B cells could produce antibodies in this patient could explain not only the mild phenotype observed but also, at least in part, how patients with Omenn syndrome produce immunoglobulin e and sometimes immunoglobulin m, as the same missense mutation of RAG1 gene has been reported in a patient with Omenn syndrome.
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12/70. Abnormal NK cell lymphocytosis detected after splenectomy: association with repeated infections, relapsing neutropenia, and persistent polyclonal B-cell proliferation.

    We report the case of a boy with hereditary spherocytosis who presented with mild microcytic hypochromic anemia and recurrent leg ulcers that had been present since childhood. Chronic natural killer (NK) cell and B-cell lymphocytosis was detected 1 year after therapeutic splenectomy during investigation of recurrent episodes of neutropenia and persistent lymphocytosis. NK cells proved to be abnormal at immunophenotyping studies, and B-cells were polyclonal and displayed a normal immunophenotype. Genotypic analysis of T-cell receptor (TCR)-beta and TCR-gamma genes showed a germ-line pattern. The clinical course of this patient was characterized by multiple pulmonary infections and amygdalitis. We discuss the potential roles of persistent immune stimulation due to chronic hemolysis and severe leg ulcers and of splenectomy in the origin of NK cell lymphocytosis and the relationship between NK cells and recurrent infections, relapsing neutropenia, and polyclonal B-cell response.
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keywords = iga
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13/70. Successful treatment of Novacor pump pocket infection by omental transposition.

    Device-related infection remains a major factor restricting the long-term use of left ventricular assist systems. Severe pocket infection is especially difficult to manage and removal of the device has been the only curative treatment in most cases. We report a case of a Novacor device pocket infection treated successfully with continuous local irrigation and transposition of omental flap. This procedure provides another option for the management of pocket infection, which is mandatory for destination therapy the permanent usage of LVAS for the purpose of circulatory supports in patients with end-stage heart failure, who are not indicated for heart transplantation.
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14/70. infection-related atlantoaxial subluxation in two adults: Grisel syndrome or not?

    Grisel's syndrome involves the subluxation of the atlanto-axial joint from inflammatory ligamantous laxity following an infectious process in the head or neck. It is a rare disease usually affecting children, but infrequent adult cases do occur. Today, due to the widened use of antibiotics and availability of MR imaging, some cases presenting with neck pain, resulting from the infectious inflammation of C1 and C2 but without pronounced subluxation, can be a challenging problem for most neurosurgeons. Several theories have been proposed to explain the pathogenesis of inflammatory subluxation. The primary treatment of Grisel's syndrome is medical. The underlying infectious organism must be isolated and appropriate antibiotics must be prescribed. The subluxation is reduced in holter or skeletal traction. This paper reports two cases of infection-related atlanto-axial subluxation in two adults. The literature on this subject is briefly reviewed.
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keywords = iga
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15/70. Total C4B deficiency due to gene deletion and gene conversion in a patient with severe infections.

    Deficiencies of the early components of the classical complement pathway impair the actions of innate and humoral immunity and may lead to increased susceptibility to infections. We have studied the genetic basis of total C4B deficiency in a Finnish patient with recurrent meningitis, chronic fistulas and abscesses. The maternal chromosome carried a four-gene deletion including the C4B gene, and a conversion from C4B to C4A gene was found on the paternal chromosome resulting in complete deficiency of C4B. In the converted C4A gene, mutation screening did not reveal any amino acid changes or prominent mutations, yet a large number of nucleotide variations were found. Further, the patient was heterozygous for structural deficiency of mannan binding lectin (MBL) associating with medium levels of serum MBL. Our data provides new information on the genetic instability of the C4 gene region, and on the association of homozygous C4B deficiency and variant MBL genotype with increased susceptibility to recurrent and chronic infections. Importantly, plasma therapy induced a prompt clinical cure with long-term effects.
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16/70. Bilateral simultaneous facial paralysis--differential diagnosis and treatment options. A case report and review of literature.

    Bilateral facial paralysis or paresis of peripheral origin is a rare condition and therefore represents a diagnostic challenge. We here present a case of a previously healthy woman who was hospitalized for symptoms of meningitis. On the second day of her hospital stay, she developed bilateral facial paresis. Later, the patient developed also tachycardia and dysrhythmias. A thorough diagnostic procedure including lumbar puncture, routine blood investigation with serological tests, MRI of the brain, Holter monitoring and transoesophageal echocardiographia, revealed meningitis with radiculitis, facial paresis and myocarditis. The clinical triad of meningitis, radiculitis and facial palsy is known as the Bannwarth Syndrome (lyme disease). The patient was treated with ceftriaxone and recovered well. Despite repeatedly taken serological tests, borrelia burgdorferi immunoglobulins were not detected. Acquired bilateral facial paralysis can occur in several diseases of infectious, neurological, idiopathic, iatrogenic, toxic, neoplastic or traumatic origin. In this article, we review the differential diagnoses and treatment options of bilateral facial paresis and present a scheme that is helpful in the diagnostic evaluation of this condition.
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ranking = 0.010599500195421
keywords = iga
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17/70. Autosomal dominant acute necrotizing encephalopathy.

    OBJECTIVE: To define the clinical and biochemical abnormalities of an autosomal dominant form of acute encephalopathy. methods: The clinical details of 11 affected family members in comparison with 63 unaffected relatives were analyzed. RESULTS: Affected children become comatose after onset of a febrile illness. Outcomes include full recovery, permanent neurologic impairment, and death. Recurrences produce more severe impairments. Lesions of necrotizing encephalopathy of the thalamus and brainstem are present on autopsy and MRI. oxidative phosphorylation of intact mitochondria from a muscle biopsy shows loose coupling. Unaffected family members, including obligate carriers, share no clinical characteristics, demonstrating incomplete penetrance. CONCLUSIONS: Characteristic pathology and MRI findings define this disorder of autosomal dominant acute encephalopathy. Leigh syndrome and sporadic acute necrotizing encephalopathy share similarities but are distinct.
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keywords = iga
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18/70. "Isolated" postinfectious myoclonus.

    Two cases are reported who developed myoclonus as the only manifestation of a post-infectious syndrome without evidence of encephalitis or the opsoclonus-myoclonus syndrome. Case 1 had generalised myoclonus following an influenza-like illness, while case 2 had right upper limb segmental myoclonus following uncomplicated chicken pox. Neither had any localising neurological signs or abnormality on investigation. Both recovered completely within six months of the onset. Similar cases are reviewed from the literature and it is suggested that such cases be called "isolated" post-infectious myoclonus.
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ranking = 0.010599500195421
keywords = iga
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19/70. association of glucose-6-phosphate dehydrogenase deficiency and X-linked chronic granulomatous disease in a child with anemia and recurrent infections.

    patients with severe leukocyte G6PD deficiency may present with impairment of nadph oxidase activity and a history of recurrent infections, mimicking the phenotype of chronic granulomatous disease. We report herein a child with recurrent infections who initially received the diagnosis of G6PD deficiency. His erythrocyte G6PD activity was reduced: 1.8 U/g Hb (normal: 12.1 /- 2.1 U/g Hb). Further studies revealed that G6PD activity in neutrophils, mononuclear leukocytes, and Epstein-Barr virus-transformed b-lymphocytes from the proband was similar to healthy controls. Molecular studies showed that the G6PD deficiency was due a 202 G-->A mutation, the A- variant common in African ethnic groups. The proband also exhibited severely impaired respiratory burst activity, as observed in X-linked CGD. sequence analysis of genomic dna showed a 264 G-->A substitution at the 3' splice junction of gp91-phox exon 3. The cDNA sequence showed a deletion of gp91-phox exon 3, giving rise to an unstable or nonfunctional mutant gp91-phox and to the phenotype of X-linked CGD. We propose that clinicians treating a patient with G6PD deficiency during a severe infection episode consider the possibility of temporary or permanent impairment of the phagocytes' microbicidal activity and the eventual association of G6PD deficiency and chronic granulomatous disease.
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ranking = 1.8
keywords = deficiency
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20/70. common variable immunodeficiency syndrome with right aortic arch: a case report.

    BACKGROUND: common variable immunodeficiency syndrome predominantly affects adults. It is characterized by low production of all the major classes of immunoglobulins. We report a case of common variable immunodeficiency syndrome with right aortic arch. An association of right-sided arch and common variable immunodeficiency syndrome has not been previously reported. CASE PRESENTATION: A 41-year-old female patient presented with a history of recurrent pneumonia, sinusitis, otitis media, diarrhoea, cystitis since childhood. Biochemical and immunocytochemical analysis revealed common variable immunodeficiency syndrome and radiological evaluation confirmed right aortic arch and aberrant left subclavian artery. CONCLUSION: common variable immunodeficiency syndrome syndrome is a clinical entity that should be kept in mind in patients with recurrent infections of different sites.
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ranking = 1.8
keywords = deficiency
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