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At least 19 recordsLinked to original sources
PubMed1995

Lupus erythematosus-like oral mucosal and skin lesions in a carrier of chronic granulomatous disease. Chronic granulomatous disease carrier genodermatosis.

We present a case of a young female patient who for 8 years was believed to have discoid lupus erythematosus of the skin and oral mucosae. Only after her infant son had a near-fatal pulmonary infection was the diagnosis of chronic granulomatous disease made and her lupus erythematosus-like mucocutaneous lesions recognized as manifestations of her carrier status for chronic granulomatous disease. The purpose of this report is to raise awareness of and better characterize the mucocutaneous manifestations of carriers of chronic granulomatous disease. Early identification of carriers permits genetic counseling and prenatal diagnosis and forewarns pediatricians so that they can provide better care for affected infants.

Adult↗
PubMed2001

Nasal manifestations of granulomatous disease.

Granulomatous disease frequently affects the head and neck region, particularly the nose and sinuses. This article describes the most common infectious and non-infectious conditions and their clinical features.

Diagnosis, Differential↗
PubMed1985

Cytochrome b deficiency in an autosomal form of chronic granulomatous disease. A third form of chronic granulomatous disease recognized by monocyte hybridization.

Three patients (two sisters and a brother) in one family are described with chronic granulomatous disease. The granulocytes of these patients did not respond with a metabolic burst to various stimuli and failed to kill catalase-positive microorganisms. The magnitude of the cytochrome b signal in the optical spectrum of the patients' granulocytes was less than 4% of the normal value, whereas the amount of noncovalently bound flavin in these cells was normal. The mode of inheritance of the genetic defect in this family is autosomal because the granulocytes of both parents (first cousins) and a nonaffected sister of the patients expressed 70-80% of the normal cytochrome b signal, showed low-normal or subnormal oxidative reactions during stimulation, and did not display mosaicism in the stimulated nitroblue-tetrazolium slide test. Somatic cell hybridization was performed between the monocytes from the affected boy in this family with monocytes from either a cytochrome b-negative male patient with X-linked chronic granulomatous disease or a cytochrome b-positive male patient with the classic autosomal form of this disease. In both combinations, monocyte hybrids were observed with nitroblue tetrazolium reductase activity after stimulation with phorbol myristate acetate. This complementation of the oxidase activity required protein synthesis. Our results prove that the defect in this family is genetically distinct from that in the other two forms of chronic granulomatous disease. Moreover, our results also indicate that the expression of cytochrome b in human phagocytes is coded by at least two loci, one on the X chromosome and one on an autosome.

Cell Fusion↗
PubMed2002

Diminished T cell numbers in patients with chronic granulomatous disease.

Chronic granulomatous disease is a neutrophil disorder in which phagocytic cells fail to produce a respiratory burst. Five genetic types of chronic granulomatous disease have been described and in each case the clinical manifestations relate to the inability to effectively kill catalase-positive organisms. It is classically described as a pure disorder of intracellular killing, with preservation of other aspects of phagocytic function such as migration and phagocytosis and normal function of nonmyeloid cells. This article describes a heretofore unrecognized feature of chronic granulomatous disease. Fifty-three patients with chronic granulomatous disease and 42 age-matched controls were studied by flow cytometry. Total T cell numbers and CD4 and CD8 T cell numbers were compared between patients and controls. Patients with chronic granulomatous disease had diminished T cell numbers compared to controls after 3 years of age. The difference increased with age. It is not known whether diminished T cell numbers influence the susceptibility to infections in these patients, but T cell effects could represent a significant cofactor for infection.

Acquired Immunodeficiency Syndrome↗
PubMed1992

Interferon gamma-1b. A review of its pharmacology and therapeutic potential in chronic granulomatous disease.

Chronic granulomatous disease is a group of rare x-linked or autosomal genetic disorders of the phagocytic NADPH oxidase system involved in host defence against various microorganisms. It is manifested by a common phenotype consisting of recurrent serious, life-threatening infection and granuloma formation. Following the finding that interferon gamma-1b (IFN gamma-1b) can potentiate phagocyte activity in some other disease states as well as restoring defective phagocyte NADPH oxidase system activity in at least some patients with chronic granulomatous disease, a large-scale placebo-controlled trial was undertaken with IFN gamma-1b in patients with chronic granulomatous disease. Long term treatment with a therapeutic dosage of IFN gamma-1b produced a significant reduction in the incidence of serious clinical events necessitating hospitalisation. The relative risk of serious infection and the number of days in hospital were each reduced by about two-thirds, and the mean duration of hospital stay by about one-third in those who did experience infection. The greatest therapeutic benefit was found in patients aged less than 10 years, but all patients were improved regardless of age, sex, use of prophylactic antibiotics or genetic pattern of inheritance. The drug was well tolerated with the commonest adverse effects (e.g. fever, headache, chills, injection site erythema) usually being mild, transient, and relieved by symptomatic treatment. IFN gamma-1b therefore provides an effective and well tolerated therapy for patients with chronic granulomatous disease, offering an important clinical advance in the treatment of this rare genetic disorder by improving the prognosis of its serious and life-threatening infectious sequelae.

Drug Interactions↗
PubMedDate not supplied

Malakoplakia of colon in a child with celiac disease and chronic granulomatous disease.

Malakoplakia is a rare pseudotumoral inflammatory disease known to affect immunocompromised subjects. We report a 4-year-old boy with malakoplakia of colon who was diagnosed with celiac disease in late infancy; despite aggressive nutritional and medical management for celiac disease, symptoms did not resolve. His nitro-blue-tetrazolium test was compatible with chronic granulomatous disease. In colonic biopsy Michaelis-Gutmann bodies were seen.

Celiac Disease↗
PubMed2002

Enhanced cutaneous inflammatory reactions to Aspergillus fumigatus in a murine model of chronic granulomatous disease.

Chronic granulomatous disease is the manifestation of genetic defects of the leukocyte NADPH oxidase resulting in the absence of a respiratory burst. Patients with chronic granulomatous disease can develop chronic granulomas in many locations of the body, including the skin. Using an established murine model of X-linked chronic granulomatous disease (X-CGD) created by homologous recombinant disruption of the gene encoding the gp91phox component of the NADPH oxidase, in this study we examined cutaneous reactivity to sterile Aspergillus fumigatus hyphae. Injection of Aspergillus fumigatus into the dorsal ears of X-CGD mice resulted in an enhanced inflammatory response by 24 h, consisting of neutrophils, which developed into suppurative granulomas by 10 d. Intradermal injection of Aspergillus fumigatus into wild-type mice only resulted in a transient inflammatory response that resolved by 10 d. Injection of Aspergillus fumigatus into female carrier mice resulted in an acute inflammatory response that was similar to that of wild-type mice, but, at higher doses of Aspergillus fumigatus, many carriers subsequently developed granulomatous lesions that were qualitatively similar but smaller than those seen in X-CGD mice by 30 d. Consistent with the ability of X-CGD mice to mount an enhanced neutrophil-rich inflammatory response to Aspergillus fumigatus, significant levels of the potent neutrophil activator/chemoattractant leukotriene B4 were measured by mass spectrometry in skin biopsies at 24 and 72 h. In contrast to the exaggerated inflammatory response to intradermal Aspergillus fumigatus in X-CGD mice compared to their wild-type counterparts, similar levels of inflammation were seen in a model of delayed-type hypersensitivity using 2,4-dinitrofluorobenzene. This study represents the first report of a cutaneous granuloma model in mice with X-CGD, which may also prove useful as a functional test to evaluate the efficacy of gene therapy protocols being developed for chronic granulomatous disease.

Animals↗
PubMed2003

[Multifocal osteomyelitis as the first manifestation of chronic granulomatous disease].

Chronic granulomatous disease is a rare immune disease related to an anomaly in phagocytes NADPH oxidase. The characteristic clinical feature is early recurrent and sometimes serious infection. We report the case of a 22-month-old child who developed multifocal osteomyelitis, an unusual inaugural manifestation of chronic granulomatous disease. Septic chronic granulomatous disease is an uncommon differential diagnosis in children who develop recurrent infections. Diagnosis is established with specific blood tests: reduction of tetrazolium nitroblue, chemoluminescence test, molecular analysis. Therapeutic management must be undertaken as early as possible in order to preserve the long-term prognosis. No curative treatment is currently available. Aggressive treatment of each infectious focus with an adapted antibiotic regimen and in certain cases surgical debridement is required in addition to long-term antibiotic prophylaxis.

Consanguinity↗
PubMed1980

X-linked inheritance in females with chronic granulomatous disease.

Chronic granulomatous disease in males is familial and its transmission is is usually clearly x-linked. The mode of inheritance in females with the syndrome is unknown and the carrier state difficult to identify. Defective polymorphonuclear leukocyte bactericidal activity in this disease is associated with an absence of the respiratory burst generated in stimulated phagocytes and may be detected by the chemiluminescence assay. Polymorphonuclear leukocytes from three of four females with chronic granulomatous disease had extremely low chemiluminescence production, their asymptomatic mothers had intermediate values, and their fathers were normal. Polymorphonuclear neutrophils of two affected males in these kinships generated no chemiluminescence, whereas two of seven female relatives had intermediate values, and all nonaffected males had normal values. In the three families in which leukocytes were studied by nitroblue tetrazolium reduction, two populations of neutrophils were demonstrated for the female patients and/or their mothers. The wide phenotypic variability for clinical disease, evidence of two leukocyte populations in the patients or their mothers, and low but detectable leukocyte chemiluminescence in the affected females is consistent with the Lyon hypothesis of x-chromosome inactivation in these families. The findings suggest an x-linked inheritance in these females with chronic granulomatous disease.

Female↗
PubMed1989

Bilateral complete ureteral obstruction and renal insufficiency secondary to granulomatous disease.

Chronic granulomatous disease is a rare disorder of neutrophil function that impairs the ability of phagocytes to react to infection and produces inflammatory lesions that may involve many organ systems. A young man recently presented with bilateral mid ureteral obstruction and renal insufficiency secondary to inflammation due to chronic granulomatous disease. To our knowledge, we believe this to be the only case of complete bilateral ureteral obstruction due to chronic granulomatous disease reported to date. A review of the disease, its pathogenesis and potential involvement of the urinary tract is presented.

Acute Kidney Injury↗
PubMed1992

The urological manifestations of chronic granulomatous disease.

Chronic granulomatous disease is a rare disorder of phagocytic cell oxidative metabolism. Patients have recurrent infections with catalase positive organisms and granulomatous lesions throughout the body. The genitourinary tract can be an occult site of involvement. We reviewed the prevalence of urological abnormalities in 60 patients with chronic granulomatous disease. Chart review revealed that 23 of the 60 patients (38%) had urological manifestations. Seven patients had 10 ureteral strictures. Treatment of the granulomatous strictures with steroids caused at least a temporary decrease in size or a resolution of the granulomas and strictures with steroids caused at least a temporary decrease in size or a resolution of the granulomas and relief of the obstruction. Three patients had bladder granulomas and 1 had a urethral stricture. A total of 12 patients had urinary tract infections and 7 had altered renal function. Ten patients had other manifestations of genitourinary disease. Abnormalities in the urinary tract are relatively frequent. Risk factors include X-linked disease and low percentile weight. Genitourinary manifestations can cause significant morbidity in chronic granulomatous disease patients. A variety of therapies, including judicious use of steroids and gamma-interferon, are proving to be useful in the treatment of this disorder and in some cases they may offer a nonoperative alternative for relief of chronic granulomatous obstructive disease in these patients.

Female↗
PubMed1988

Pulmonary aspergillosis appearing as chronic nodular disease in chronic granulomatous disease.

Chronic nodular pneumonia is unusual in children. Three children are described who presented with diffuse nodular pulmonary disease and in whom lung biopsy demonstrated Aspergillus infection. One child was known to have chronic granulomatous disease of childhood (CGD) and further investigation demonstrated CGD in the other two patients as well. These cases indicate that Aspergillus infection and CGD should be considered in the differential diagnosis in children who present with chronic diffuse nodular pneumonia.

Aspergillosis↗
PubMedDate not supplied

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.

Anti-Infective Agents↗
PubMed2004

Successful elimination of an invasive Aspergillus nidulans lung infection by voriconazole after failure of a combination of caspofungin and liposomal amphotericin B in a boy with chronic granulomatous disease.

Chronic granulomatous disease is an inherited defect in host defense mechanisms mainly affecting neutrophil function. Pulmonary infection with Aspergillus nidulans in a child with chronic granulomatous disease could not be eliminated by a combination of caspofungin and liposomal amphotericin B. Voriconazole was successful in clearing the infection.

Adolescent↗
PubMed1991

Skeletal involvement in children who have chronic granulomatous disease.

Chronic granulomatous disease is a rare disorder of the oxidative metabolism of the white blood cells that results in immunodeficiency. In a retrospective review of the records of forty-two patients who had chronic granulomatous disease, we identified thirteen patients who had a total of twenty skeletal infections. Two types of infection were noted: Type 1, which resulted from a direct spread of the infection from an adjacent focus, usually of fungus or mycobacteria, and Type 2, which resulted from hematogenous spread, usually of Nocardia or more common bacteria. The thoracic vertebrae, ribs, and metatarsals were the most commonly involved bones. All four patients in whom the vertebrae were involved had a Type-1 fungal infection. Paresis developed in three of these patients, and two of them died. Antibiotics alone effectively eradicated the infection in only one patient. Wide operative débridement combined with administration of antibiotics was the most successful treatment. Comprehensive preoperative imaging and several cultures are necessary to locate the infection in the bone and to identify the organism.

Adolescent↗
PubMed1999

A novel mutation in the CYBB gene resulting in an unexpected pattern of exon skipping and chronic granulomatous disease.

Chronic granulomatous disease is a rare inherited disorder caused by non-existent or severely decreased phagocyte superoxide production that results in a severe defect in host defense and consequent predisposition to microbial infection. The enzyme responsible for superoxide production, NADPH oxidase, involves at least five components. An absence of, or a defect in, any one of four of these proteins (p47(phox), p67(phox), p22(phox) and gp91(phox)) gives rise to the known types of chronic granulomatous disease. The most common form of inheritance is X-linked and is due to mutations in the CYBB gene that encodes gp91(phox), the large subunit of flavocytochrome b, the terminal electron donor of the oxidase. We have recently reported a large number of mutations in this gene revealing a broad range of defects, including large and small deletions, and frameshift, nonsense, missense, splice region and regulatory region mutations. Here we report a patient who has an unusual type of mutation that results in the generation of a 'pseudo-exon' in the gp91(phox) mRNA and an unexpected pattern of splicing.

Base Sequence↗