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11/409. Pericardial effusions in two boys with chronic granulomatous disease.

    Pericardial involvement in chronic granulomatous disease (CGD) is very rare. We present two children with known CGD and pericardial effusions in whom no microbial cause for the effusions was found. ( info)

12/409. Chronic granulomatous disease and acute neutrophilic dermatosis.

    Chronic granulomatous disease is an inherited disorder characterized by defective oxidative killing by neutrophils and other phagocytes. This results in susceptibility to persistent and life-threatening infections. We describe a 25-year-old man with chronic granulomatous disease who presented with an acute, febrile neutrophilic dermatosis. This indicates that normal neutrophil intracellular killing mechanisms are not essential in the pathogenesis of neutrophilic dermatoses. ( info)

13/409. Successful treatment with methylprednisolone pulse therapy for a life-threatening pulmonary insufficiency in a patient with chronic granulomatous disease following pulmonary invasive aspergillosis and burkholderia cepacia infection.

    A 14-year-old boy with X-linked chronic granulomatous disease developed severe invasive pulmonary aspergillosis. He was treated with itraconazole and amphotericin b. However, he deteriorated with progressive pulmonary lesions. burkholderia cepacia was isolated from his bronchoalveolar lavage. Finally, he was given granulocyte transfusions. Following this procedure, his condition rapidly worsened leading to respiratory failure. His lung biopsy demonstrated organizing pneumonia at his right middle lobe. Then, a methylprednisolone pulse therapy was initiated together with the administration of appropriate antibiotics and adequate amounts of amphotericin b. Dramatically, his condition improved. Therefore, a methylprednisolone pulse therapy with appropriate antimicrobial drugs seems to be beneficial for severe pulmonary insufficiency in this type of patients. copyright copyright 1999 S. Karger AG, Basel ( info)

14/409. Chronic granulomatous disease: an inherited disorder of phagocytosis in a Maori ancestry.

    Chronic granulomatous disease, in which abnormal susceptibility to infection is caused by an inherited defect in phagocytic cells, has been diagnosed in three brothers. Two brothers had repeated bacterial infections of the skin, superficial lymph nodes and lungs from infancy and died aged 27 months and 13 months. Characteristic suppurating granulomata were found in many organs. The diagnosis was established in both during life, and in the third asymptomatic brother shortly after birth, by studies of phagocytic function which included tests for nitroblue-tetrazolium reduction, hexose monophosphate shunt activity and bactericidal capacity. Their mother and a maternal aunt, both Maoris with no known Caucasian ancestry, were identified as carriers of the presumed sex-linked recessive gene. The clinical features of the disease and the laboratory methods for diagnosis are described. ( info)

15/409. Sensitization to Aspergillus species in the congenital neutrophil disorders chronic granulomatous disease and hyper-IgE syndrome.

    BACKGROUND: Hyper-IgE syndrome (HIE) and chronic granulomatous disease (CGD) are congenital immunodeficiency diseases with increased susceptibility to bacterial and fungal infections. Both carry significant morbidity and mortality rates because of invasive infections by Aspergillus species. We encountered 2 patients, one with HIE and one with CGD, in whom detection of sensitization to Aspergillus species preceded the diagnosis of immunodeficiency. With high-dose systemic corticosteroids for allergic bronchopulmonary aspergillosis (ABPA), an inflammatory disorder caused by sensitization to Aspergillus species, pulmonary abscesses developed in the patient with HIE, and the patient with CGD succumbed to an overwhelming Aspergillus species-induced pneumonia. OBJECTIVE: We sought to assess the prevalence of sensitization to aspergillus fumigatus and the presence of diagnostic criteria for ABPA in patients with CGD and HIE. methods: We measured A fumigatus-specific serum IgE, IgG, and precipitating antibodies as indicators for A fumigatus sensitization in the sera of 18 patients with neutrophil disorders (7 with HIE and 11 with CGD). hospital records were reviewed for the presence of other diagnostic criteria for ABPA (asthma, elevated total serum IgE concentration, and radiographic abnormalities). RESULTS: Twelve (67%) of 18 patients were sensitized to A fumigatus, as evidenced by precipitating A fumigatus-specific antibodies. Six (33%) of 18 patients had serologic evidence of ABPA. Five of those 6 patients had radiologic abnormalities consistent with a diagnosis of ABPA. One patient with HIE also had asthma, thus fulfilling minimal essential criteria for concurrent ABPA. CONCLUSIONS: patients with HIE syndrome and CGD have a high incidence of sensitization to Aspergillus species. A clinical picture indistinguishable from ABPA may coexist or emerge in patients with CGD or HIE and create a major management dilemma because systemic corticosteroids may accelerate tissue damage and invasive fungal infections. It is important to distinguish individuals with congenital neutrophil disorders from uncomplicated classic ABPA. ( info)

16/409. Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte nadph oxidase.

    Chronic granulomatous disease (CGD) is a rare inherited immunodeficiency disease that leads to severe recurrent infections. CGD is caused by defects in the phagocyte nadph oxidase, a multiprotein enzyme that reduces oxygen to superoxide, a precursor of microbicidal oxidants. Less than 6% of CGD patients have an autosomal recessive form of the disease caused by mutations in NCF-2. This gene encodes p67-phox, a cytosolic oxidase subunit that associates with membrane-bound flavocytochrome b558 and regulates electron transfer. We studied six patients from five families with p67-phox deficiency and identified seven different mutant alleles. patients from three of the kindreds were homozygous for their respective mutation, although the parents of only one family were known to be related. Five of the mutations have not previously been identified: (1) a missense mutation (383C-->T) in exon 5, (2) a nonsense mutation (196C-->T) in exon 3, (3) a missense mutation (230G-->A) in exon 3, (4) a nonsense mutation (298C-->T) in exon 4, and (5) a dinucleotide deletion (835-836 AC) from exon 9. phagocytes from each of the patients analyzed failed to generate a measurable respiratory burst and had no detectable p67-phox protein. Our results further demonstrate that there is great heterogeneity among the mutations in p67-phox-deficient CGD patients, with no evidence for mutational hot-spots or a founder effect. Our data also support the hypothesis that the stability of p67-phox is particularly sensitive to missense mutations that cause amino acid substitutions within its N-terminal domain. In contrast, mutations predicting single amino acid changes elsewhere in the protein generally represent benign polymorphisms. ( info)

17/409. Neutrophil dysfunction and granulomatosis in the preleukemic state.

    A 40-year-old male had periods of fever, sore throat and anemia for 14 months before acute myeloblastic leukemia could be diagnosed from hematological findings. During the preleukemic state, impaired bactericidal capacity of the granulocytes was repeatedly demonstrated and multiple hepatosplenic and skin granulomas occurred. Results of granulocyte function studies may prove to be of significant aid in the diagnosis of the preleukemic state of acute myeloblastic leukemia. ( info)

18/409. Vascular lesion (arteriovenous aneurysm or haemangioma) of the orbit in a case of chronic granulomatous disease.

    A case of arteriovenous aneurysm or congenital arteriovenous haemangioma of the orbit is described in a 5-year-old boy with chronic granulomatous disease. Lipid pigments are demonstrated in endothelial cells as well as in histiocytes and fibrocytes. There appears to be a decreased ability to remove phagocytosed haemosiderin, in addition to the well-known inability of granulocytes, and probably to some extent of histiocytes, to kill phagocytosed bacteria. ( info)

19/409. Lupus erythematosus tumidus and chronic discoid lupus erythematosus in carriers of X-linked chronic granulomatous disease.

    Two Caucasian carriers for chronic granulomatous disease (CGD) developed cutaneous lupus erythematosus (LE) with clinically and morphologically characteristic appearance for chronic discoid lupus erythematosus (DLE) and lupus erythematosus tumidus (LET). Direct immunofluorescent examinations and ANA titers were positive in both young women. No systemic involvement due to the ACR criteria was evident. Their sons suffered from X-linked cytochrome-b negative CGD. The diagnosis of CGD was based on measurement of oxidative burst activity by nitroblue tetrazolium (NBT) slide test and by flow cytometry using dihydrorhodamine 123 (DHR). The absence of cytochrome b558 in neutrophilic granulocytes was confirmed photometrically and by flow cytometry using the 7D5 monoclonal antibody against cytochrome b. We report for the first time the association of the photosensitive LE subtype LET and the X-linked CGD carrier state. Tissue damage by UV radiation and a reduced antimicrobial capacity may lead to recurrent immune stimulation and may together with genetic predisposition explain the occurrence of cutaneous LE in female carriers of CGD. ( info)

20/409. Gastric antral stricture in a patient with chronic granulomatous disease.

    Chronic granulomatous disease (CGD) is a rare disorder of phagocytic cell oxidative metabolism. patients have recurrent infections with catalase-positive organisms and granulomatous lesions throughout the body. Gastric antrum can be an occult site of involvement. We describe a four-year old boy with chronic granulomatous disease who was admitted with the complaints of persistent vomiting and weight loss. Gastric antral narrowing was diagnosed according to radiological findings. Treatment with steroid and antibiotics yielded a good clinical response in 15 days with a relief of the obstruction. This case report emphasizes the beneficial effect of this form of therapy in preventing life-threatening obstruction of vital organs in CGD. ( info)
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