Cases reported "Immune System Diseases"

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1/5. A family with complement factor d deficiency.

    A complement factor d deficiency was found in a young woman who had experienced a serious neisseria meningitidis infection, in a deceased family member with a history of meningitis, and in three relatives without a history of serious infections. The patient and these three relatives showed a normal activity of the classical complement pathway, but a very low activity of the alternative complement pathway and a very low capacity to opsonize escherichia coli and N. meningitidis (isolated from the patient) for phagocytosis by normal human neutrophils. The alternative pathway-dependent hemolytic activity and the opsonizing capacity of these sera were restored by addition of purified factor D. The family had a high degree of consanguinity, and several other family members exhibited decreased levels of factor D. The gene encoding factor D was found to contain a point mutation that changed the TCG codon for serine 42 into a TAG stop codon. This mutation was found in both alleles of the five completely factor D-deficient family members and in one allele of 21 other members of the same family who had decreased or low-normal factor D levels in their serum. The gene sequence of the signal peptide of human factor D was also identified. Our report is the first, to our knowledge, to document a Factor D gene mutation. The mode of inheritance of factor D deficiency is autosomal recessive, in accordance with the localization of the Factor D gene on chromosome 19. Increased susceptibility for infections in individuals with a partial factor D deficiency is unlikely.
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2/5. ICF syndrome in a girl with dna hypomethylation but without detectable DNMT3B mutation.

    A 3-year-old girl with phenotypic and cytogenetic manifestations of the ICF syndrome and dna hypomethylation but without DNMT3B gene mutation is described. At age 3 months, she had an apneic spell that left her with spastic paraplegia and severe mental retardation. At age 8 months, she suffered meningococcal meningitis and sepsis. When seen by us at age 3 years with virilization, she had a cleft plate, macroglossia, and an atrial septal defect. An adenoma was surgically removed from the right adrenal cortex. Her serum immunoglobulin levels were normal except IgA at the low normal border. Her lymphocytes showed paracentromeric stretching of chromosomes 1 and 16 in 7% of metaphases, and multiradial figures involving these chromosomes in 1% of cells. Hypomethylation of classical satellite 2 dna was observed with BstBI digestion, but in a lesser degree than those in the individuals with proven DNMT3B mutations. No mutation was found in the coding and promoter regions of the gene. Several alternative interpretations were considered to explain the low frequencies of chromosomal instabilities and the lower degree of dna hypomethylation, and undetected DNA3B mutations. A mutation may be present in the gene but undetected, present in other dna methyltransferases (DNMT) genes or in a DNMT-associated protein gene.
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3/5. Montelukast in the treatment of hiv associated immune reconstitution disease.

    The pathogenesis of immune reconstitution disease (IRD) is not well understood and it can be difficult to manage. leukotrienes exert proinflammatory effects, have an important role in the innate immune response, and are relatively deficient in hiv infection. Montelukast is a leukotriene receptor antagonist (LTRA) currently licensed for the treatment of asthma. We report a series of three patients with severe hiv associated IRD (cases 1 and 2 associated with starting HAART and unresponsive to steroids), who obtained clinically dramatic responses to treatment with montelukast. The first case is of IRD to secondary syphilis and the second and third to tuberculosis. Cases 1 and 3 both relapsed after a temporary break from montelukast and resolved on restarting. Montelukast should be considered in hiv associated IRD as an alternative to steroids and where these are not effective. Leukotriene overactivity may be implicated in IRD.
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4/5. association of neutrophil and complement defects in two twins with Shwachman syndrome.

    Immunological functions were studied in two 22-month-old dizygotic twins with the characteristic features of Shwachman syndrome. A severe defect of neutrophil motility was found in both children, but not in their parents. An impairment of the activity of the alternative pathway of complement was present in the sera of both patients. This defect, in association with the neutropenia and the chemotactic defect, might be related to the recurrent infections displayed by the twins.
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5/5. Studies of immune response in a patient with selective complete C1q deficiency.

    Immune response in a six-year-old girl with a rare complement defect, namely selective complete C1q deficiency, was studied. Her cell-mediated immune response (delayed hypersensitivity skin tests, E, EAC rosettes, in vitro lymphocyte transformation with phytohemagglutinin), isohemagglutinin titers, serum immunoglobulin levels, antibody titers to tetanus, Epstein-Barr virus, keyhole limpet hemocyanin, pneumococcus and bacteriophage 0 x 174 were all normal. However, she had abnormal kinetics of the antibody response to bacteriophage following primary and secondary immunizations. Her antibody titers reached a peak four weeks after primary immunization and three weeks after secondary immunization, while the titers of controls peaked at two weeks and one week, respectively. In this study we could not prove the hypothesis that defective antibody response caused recurrent infections in this patient. An alternative hypothesis is the possible role of defective clearance of immune complexes in the development of severe infections. patients with selective complete C1q deficiency form immune complexes with bacterial or viral antigens, thus activating the classical complement pathway. As a result, very low C1q levels decrease even further, leading to a severe immunodeficiency and recurrent infections. Future studies in this area may help to explain the mechanism(s) responsible for infections in this rare type of complement defect.
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