Cases reported "Immune System Diseases"

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11/95. Angio-immunoblastic lymphadenitis: remarks about two cases.

    Two patients with clinical and pathological symptoms of so-called angioimmunoblastic lymphadenitis are presented. Both patients were over 50, with multiple lymphadenopathies, fever, pruritus and hyperglobulinemia. The lymph node changes exhibited a characteristic histological triad consisting of diffuse lymphoid proliferation, small arborizing vessels proliferation and paraamyloid-like amorphous material deposition. As previous authors suggested, the disease seems to be the expression of a prolonged hyperimmune response induced by the hypersensitivity to certain factors. ( info)

12/95. 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. ( info)

13/95. immune reconstitution inflammatory syndrome associated with Kaposi sarcoma during potent antiretroviral therapy.

    Rapidly progressive Kaposi sarcoma (KS) lesions with lymphadenopathy and tissue swelling occurred in a patient during antiretroviral treatment, despite an increased CD4( ) lymphocyte count and decreased hiv-1 level and KS-associated herpesvirus replication, suggesting immune reconstitution inflammatory syndrome. inflammation resolved coincident with decreases in the CD4( ) lymphocyte count during paclitaxel treatment, whereas KS cleared only after prolonged antiretroviral therapy and chemotherapy. ( info)

14/95. Acupuncture for immune-mediated disorders. literature review and clinical applications.

    Acupuncture activates the defense systems. It influences specific and nonspecific cellular and humoral immunities; activates cell proliferation, including blood, reticuloendothelial, and traumatized cells; and activates leucocytosis, microbicidal activity, antibodies, globulin, complement, and interferon. It modulates hypothalamic-pituitary control of the autonomic and neuroendocrine systems, especially microcirculation, response of smooth and striated muscle, and local and general thermoregulation. Immunostimulant points include LI-4, LI-11, ST-36, GB-39, SP-6, GV-14, BL-11, BL-20, BL-23, BL-24, BL-25, BL-26, BL-27, BL-28, and CV-12. Some, such as BL-47, are immunosuppressive. Antifebrile points include GV-14 and ST-36. Reactive reflex SHU points, MU points, and earpoints are useful in organic diseases. In immunomediated diseases, some or all of these points can be used with other points, especially local points and points of the major symptoms or points of the affected body part, area, function, or organ. Applications of acupuncture include treatment of inflammation and trauma; stimulation of tissue healing in burns, ulcers, indolent wounds, ischemia, necrosis, and gangrene; infections; postinfection sequelae; fever; autoimmune disease; allergies; anaphylaxis and shock; and treatment or prevention of side effects from cytotoxic chemotherapy and ionizing radiation. acupuncture therapy may inhibit neoplastic cells. Examples of acupuncture use in immunomediated conditions in small animals are given. ( info)

15/95. Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings.

    Schimke-immuno-osseous dysplasia (SIOD) is a multisystem disorder with the following consistent clinical features: spondyloepiphyseal dysplasia with disproportional growth deficiency, nephrotic syndrome with focal and segmental glomerulosclerosis, and defective cellular immunity. Transitory ischemic attacks due to vaso-occlusive processes are complications in some patients with severe SIOD. Recently, mutations of SMARCAL1, which encodes a putative chromatin remodelling protein, have been associated with SIOD. patients with milder disease were observed to harbor a missense mutation on each allele, whereas patients with a severe form of the disease were predicted to have at least one allele with a nonsense, frameshift or splicing mutation. We report two brothers who are both compound heterozygous for the mutations 836 T>C and 2542 G>T detected in exons 4 and 17, respectively. We demonstrate the lack of genotype-phenotype correlation in these patients as one brother shows some features of the severe form while the other does not. Neither clinical nor molecular findings can fully predict the clinical course of SIOD. ( info)

16/95. association of migraine-like headaches with Schimke immuno-osseous dysplasia.

    Schimke immuno-osseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia, nephropathy, and T-cell deficiency. SIOD is caused by mutations in the putative chromatin remodeling protein SMARCAL1. We report an 8-year-old boy with SIOD and recurrent, severe, refractory migraine-like headaches. Through a retrospective questionnaire-based study, we found that refractory and severely disabling migraine-like headaches occur in nearly half of SIOD patients. We have also found that the vasodilator minoxidil provided symptomatic relief for one patient. We hypothesize that these headaches may arise from an intrinsic vascular, neuroimmune, or neurovascular defect resulting from loss of SMARCAL1 function. ( info)

17/95. An immune reconstitution syndrome-like illness associated with cryptococcus neoformans infection in organ transplant recipients.

    BACKGROUND: We describe an immune reconstitution syndrome (IRS)-like entity in the course of evolution of cryptococcus neoformans infection in organ transplant recipients. methods: The study population comprised a cohort of 83 consecutive organ transplant recipients with cryptococcosis who were observed for a median of 2 years in an international, multicenter study. RESULTS: In 4 (4.8%) of the 83 patients, an IRS-like entity was observed a median of 5.5 weeks after the initiation of appropriate antifungal therapy. Worsening of clinical manifestations was documented, despite cultures being negative for C. neoformans. These patients were significantly more likely to have received tacrolimus, mycophenolate mofetil, and prednisone as the regimen of immunosuppressive therapy than were all other patients (P = .007). The proposed basis of this phenomenon is reversal of a predominantly Th2 response at the onset of infection to a Th1 proinflammatory response as a result of receipt of effective antifungal therapy and a reduction in or cessation of immunosuppressive therapy. CONCLUSIONS: This study demonstrated that an IRS-like entity occurs in organ transplant recipients with C. neoformans infection. Furthermore, this entity may be misconstrued as a failure of therapy. Immunomodulatory agents may have a role as adjunctive therapy in such cases. ( info)

18/95. Immune deficiency in CHARGE association.

    CHARGE association is the sporadic, non-random concurrence of coloboma of the eye, heart anomalies, choanal atresia, Retardation of growth and development, Genitourinary anomalies, Ear anomalies and deafness (CHARGE association). Other abnormalities have also been reported in small numbers of patients with CHARGE association. The molecular basis of the CHARGE association is not clear. The spectrum of CHARGE association anomalies is wide and includes multiple systems. CHARGE association shares features with DiGeorge sequence, but no specific immune abnormalities are identified with the CHARGE association. The present study reports immune defects observed in three patients with CHARGE association. All patients presented with frequent upper and lower respiratory infections. The underlying immune abnormalities differ: one patient has impaired T-cell proliferation and poor antibody response to polysaccharide (pneumococcal) antigens; another has T-cell lymphopenia; and the third has a mild IgG2 subclass deficiency. Their course has so far been benign and they are all managed with prophylactic antibiotics. Although no single abnormality of the immune system is recognized in these patients, immune deficiency is considered among the occasional components of the CHARGE association. ( info)

19/95. Spectrum of phenotypic manifestations from a single point mutation of the p63 gene, including new cutaneous and immunologic findings.

    Mutations in the p63 gene have been identified in five human disorders characterized by varying degrees of limb anomalies, ectodermal dysplasia, and facial clefts. We report a new point mutation in the p63 gene in a family in which the mother was initially diagnosed with Rapp-Hodgkin syndrome and her two offspring manifested ankyloblepharon, ectodermal defects, cleft lip and palate, syndrome. These three patients are the first to be reported with this particular mutation, which consists of a change from glycine to aspartic acid at position 506 on exon 14. The clinical spectrum observed in the three family members highlights the wide range of phenotypic variations that result from a single point mutation in the p63 gene. The mother lacks certain features classically associated with AEC, dermatitis of the scalp in particular. Severe erosive dermatitis of the scalp developed in both offspring, along with previously undescribed poikilodermatous skin changes and a deficiency of CD4 T lymphocytes. The new and varied phenotypic features noted in these patients emphasize the spectrum of disease caused by mutations in the p63 gene and raise the possibility of a role for it in maintaining immunocompetence. ( info)

20/95. Opsoclonus in a patient with guillain-barre syndrome.

    A 54 year-old woman showed the unusual association of a guillain-barre syndrome and opsoclonus, a rare eye movement characterized by involuntary bursts of jerking, ataxic and multidirectional saccades, without an intersaccadic interval. Since opsoclonus is a phenomenon described exclusively in CNS diseases, the case reported supports the hypothesis of CNS involvement in some cases of guillain-barre syndrome. The latter is generally considered an immune-mediated disease and an immune pathogenesis is also supposed in opsoclonus associated with systemic malignancies; besides, in the patient reported, the self-limiting nature of the disturbance and the lack of MRI lesions suggest that opsoclonus may result from an immune-related phenomenon causing a functional and transitory dysfunction of the CNS. ( info)
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