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1/110. Upper respiratory problems in the yellow nail syndrome.

    A case of the yellow nail syndrome is described. The characteristic nail changes were associated with pleural effusions, lymphoedema of the face and legs and upper respiratory symptoms. The finding of extremely hard ear wax has not been reported previously. A satisfactory response to combination diuretic therapy was seen. The case of recognition of the Syndrome is emphasized together with the danger of excessive investigation if the nails are not inspected. Possible mechanisms for the formation of extremely hard cerumen are discussed.
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keywords = iga
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2/110. XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.

    We report on a family with severe X-linked mental retardation (XLMR) and progressive, severe central nervous system deterioration. Three of the five affected males died of secondary complications before the age of 10 years and none have survived past the age of 10. These complications included swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections. In addition, hypotonia and a mild myopathy were also present. All had a characteristic facies, including downslanting palpebral fissures, hypertelorism, and a short nose with a low nasal bridge. The two older boys showed cerebral atrophy by CT. No metabolic abnormalities were identified. Three obligate carriers had an IQ less than 80. The causal gene has been localized distal to DXS8103 in Xq28, a region spanning 5cM. No other XLMR disorder with these manifestations have been localized to this region and this appears to be a new disorder.
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3/110. Homozygous deletion of the CYP21A-TNXA-RP2-C4B gene region conferring C4B deficiency associated with recurrent respiratory infections.

    The central class III region of the human major histocompatibility complex contains highly polymorphic genes that are associated with immune disorders and may serve as susceptibility factors for viral infections. Many HLA haplotype specific rearrangements, duplications, conversions and deletions, occur frequently in the C4 gene region. Genetic deficiencies of complement components are associated with recurrent occurrence of bacterial infections. We have studied the complement profile and the class III genes 5'-RP1-C4A-CYP21A-TNXA-RP2-C4B-CYP21B-TNXB -3' in a 4-year-old Caucasian patient. He has suffered from several pneumonias caused by respiratory viruses, eight acute otitis media, prolonged respiratory infections and urinary tract infection. complement c4 was constantly low, but the other complement components, from C1 to C9, C1INH, factor B and properdin, were within normal limits. Immunological evaluation gave normal lymphocyte numbers and functions with the exception of subnormal T cell response to pokeweed mitogen. Molecular studies of the C4 gene region in the patient revealed homozygous deletion of CYP21A-TNXA-RP2-C4B generating total deficiency of C4B and the flanking 5' region up to C4A, and in the father a missing CYP21A gene. Further investigations are needed to elucidate the relationship between C4B deficiency and susceptibility to infections.
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ranking = 20.34090721244
keywords = deficiency, iga
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4/110. Polymorphic light eruption occurring in common variable hypogammaglobulinaemia, and resolving with intravenous immunoglobulin therapy.

    A 55-year-old woman with a past history of lower respiratory tract infections presented with a photosensitive eruption. Polymorphic light eruption (PLE) was diagnosed on the basis of the temporal relationship to sun exposure and the diagnosis was supported by positive monochromator irradiation tests in the ultraviolet A wavelength spectrum. Investigation of the patient's immune status identified low levels of all immunoglobulin (Ig) subtypes consistent with common variable hypogammaglobulinaemia. Intravenous Ig replacement therapy, instituted to minimize risks from bacterial infections, was commenced and over the ensuing months resulted in a complete resolution of the PLE. PLE is considered to represent a type IV hypersensitivity reaction directed against a cutaneous autoantigen induced by exposure to ultraviolet light. In PLE, nonspecific immunomodulatory mechanisms of intravenous Ig may be active, such as a reduction in the synthesis of cytokines and a blockage of the IgG Fc receptors on macrophages.
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5/110. Recovery of candida dubliniensis from non-human immunodeficiency virus-infected patients in israel.

    candida dubliniensis is a recently discovered yeast species principally associated with carriage and disease in the oral cavities of human immunodeficiency virus (hiv)-infected individuals. To date the majority of isolates of this species have been identified in europe and north america. In this study, five candida isolates recovered from separate hiv-negative hospitalized patients in Jerusalem, israel, were presumptively identified as C. dubliniensis on the basis of their dark green coloration when grown on CHROMagar candida medium. Their identification was confirmed by a variety of techniques, including carbohydrate assimilation profiles, absence of growth at 45 degrees C, positive reaction with C. dubliniensis-specific antibodies as determined by indirect immunofluorescence analysis, and positive amplification with C. dubliniensis-specific PCR primers. All five strains were shown to be susceptible to a range of antifungal agents, including fluconazole. One of the five isolates was recovered from urine specimens, while the remaining four were recovered from upper respiratory tract and oral samples. While none of the patients was hiv positive, all were receiving broad-spectrum antibacterials at the time isolates of C. dubliniensis were obtained from clinical specimens. This study describes the first isolates of C. dubliniensis from the middle east and confirms that this yeast can be associated with carriage and infection in the absence of hiv infection.
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ranking = 16.117422677033
keywords = deficiency
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6/110. Assessment of the child with recurrent respiratory infections.

    BACKGROUND: Children with atopy, daycare attendance, crowding or exposure to cigarette smoke are predisposed to recurrent respiratory infection. The young child who 'is always sick' is a common problem, creating concern for their parents and doctors. OBJECTIVE: To outline an approach for determining which children with recurrent respiratory infections are normal, which have an allergic disorder and which have an underlying immune or other problem. DISCUSSION: The majority of children with recurrent respiratory tract infections are normal, however, it is important to consider atopy and underlying immunodeficiency. In those children where there are features suggesting an underlying immunological disorder, specialist assessment is warranted.
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ranking = 4.2234845354066
keywords = deficiency, iga
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7/110. Aspergillus laryngotracheobronchial infection in a 6-year-old girl following bone marrow transplantation.

    Localised fungal infection of the larynx and tracheobronchial tree is extremely uncommon. We report the case of a 6-year-old girl with acute lymphocytic leukaemia, who developed symptoms of upper airways obstruction 6 months after a cord blood transplant. bronchoscopy showed a pale plaque lesion in the larynx and tracheobronchial tree. aspergillus fumigatus was cultured from a biopsy of the lesion. The patient was treated successfully with a prolonged course of amphotericin b and assessed with multiple surveillance bronchoscopies.
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keywords = iga
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8/110. Update: Investigation of anthrax associated with intentional exposure and interim public health guidelines, October 2001.

    On October 4, 2001, CDC and state and local public health authorities reported a case of inhalational anthrax in florida. Additional cases of anthrax subsequently have been reported from florida and new york city. This report updates the findings of these case investigations, which indicate that infections were caused by the intentional release of bacillus anthracis. This report also includes interim guidelines for postexposure prophylaxis for prevention of inhalational anthrax and other information to assist epidemiologists, clinicians, and laboratorians responding to intentional anthrax exposures.
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ranking = 5
keywords = iga
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9/110. Update: Investigation of bioterrorism-related anthrax and interim guidelines for clinical evaluation of persons with possible anthrax.

    Since October 3, 2001, CDC and state and local public health authorities have been investigating cases of bioterrorism-related anthrax. This report updates findings as of October 31, and includes interim guidelines for the clinical evaluation of persons with possible anthrax. A total of 21 cases (16 confirmed and five suspected) of bioterrorism-related anthrax have been reported among persons who worked in the district of columbia, florida, new jersey, and new york city (Figure 1). Until the source of these intentional exposures is eliminated, clinicians and laboratorians should be alert for clinical evidence of bacillus anthracis infection. Epidemiologic investigation of these cases and surveillance to detect new cases of bioterrorism-associated anthrax continues.
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ranking = 6
keywords = iga
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10/110. Update: Investigation of bioterrorism-related anthrax--connecticut, 2001.

    CDC and state and local health departments continue investigating cases of bioterrorism-related anthrax. This report revises the number of suspected cases and updates the investigation of a 94-year-old connecticut (CT) resident who died from inhalational anthrax.
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ranking = 6
keywords = iga
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