Manifestations Of Chronic Granulomatous Disease Research Articles

Respiratory manifestations of chronic granulomatous disease; a clinical survey of patients from Iranian primary immunodeficiency registry.

Chronic granulomatous disease represents a group of inherited disorders of phagocytic system wherein recurrent infections are seen at different sites especially in the respiratory system. To determine the clinical spectrum of respiratory manifestations in chronic granulomatous disease patients, in this retrospective study, we used data from Iranian Primary Immunodeticiency Registry. The diagnosis was based upon WHO criteria for chronic granulomatous disease. We reviewed the records of 38 patients (26 males, 12 females), related to 33 families, 73% of whom were consanguineous. The median age at the time of the study was 12yrs (3 months-22 years). The median onset age of symptoms was 4 months (l month-12 years), and that of diagnostic age was 5 years (l month-20 years), with a diagnostic delay of 4.15 years, on an average. Sixty three percent of our patients had respiratory involvement in the course of their illness, including pneumonia (18 pts, 75%), tuberculosis (llpts, 46%), aspergillosis (3 pts, 12.5%), pulmonary abscess (3 pts, 12.5%), and bronchiectasis (1 pt, 4%). Only 4 of our patients presented with respiratory problems as their first manitestation. Lymph nodes were the first common site and the lungs were the second sites of involvement in chronic granulomatous disease patients; however, it is noteworthy that only in a few of our patients, it was the first manifestation of the disease. Thus special attention should be paid to the pulmonary complications while managing this disease.

Cutaneous manifestations of chronic granulomatous disease: A report of four cases and review of the literature

Chronic granulomatous disease represents a group of genetic disorders in which impaired intracellular microbial killing by phagocytes leads to recurrent bacterial and fungal infections and granuloma formation. Cutaneous disease occurs in 60% to 70% of cases. The characteristic histologic finding of pigmented lipid macrophages in visceral granulomas has not been described previously in the skin. Our purpose was to review our experience of skin disorders in chronic granulomatous disease. We studied the clinical and histologic findings in four patients with chronic granulomatous disease and unusual skin lesions. We reviewed the skin disorders seen in five additional patients with chronic granulomatous disease referred to the pediatric dermatology clinic. The literature was reviewed for previously reported cutaneous manifestations of chronic granulomatous disease. A teenage boy with chronic granulomatous colitis had nonulcerating cutaneous granulomas from which no organisms were isolated. Histologic examination of both skin and bowel revealed the characteristic golden-yellow granular pigment in macrophages. A second boy had cutaneous aspergillosis involving the left foot; histologic examination revealed macrophages containing yellow-brown pigment at the periphery of the granulomatous inflammation. Two children had vesicular skin lesions. These lesions were recurrent in one boy for several years. In the second child they were associated with fatal intracranial and pulmonary infection. Histologic examination in both cases revealed a subcorneal polymorphonuclear infiltrate and perivascular macrophages containing yellow-brown pigment. Cultures were either negative or revealed organisms that are normally nonpathogenic skin commensals, such as coagulase-negative staphylococci. The cutaneous manifestations of chronic granulomatous disease encompass a variety of infections and inflammatory lesions. Diagnostic and therapeutic problems may arise because of difficulty in isolating a causative organism. The characteristic pigmented macrophages of visceral granulomas can also be found in skin lesions.

Intrapulmonary Mycobacterium avium infection as the first manifestation of chronic granulomatous disease

A 10-month-old Japanese male infant, with no history of being prone to infections, contracted an intrapulmonary mycobacterial infection. After 2 months of intermittent fever, radiological examinations revealed mass lesions in the lung and mediastinum. Biopsy specimens showed granulomas with caseous necrosis, from which Mycobacterium avium was isolated. There was no history of mycobacteriosis or immunodeficiency diseases among his relatives. Analyses of the O2- release and expression of NADPH oxidase components verified that he suffered from gp91-phox- chronic granulomatous disease (CGD), and that his mother was a carrier of the disease. This is a rare clinical presentation for the onset of CGD, suggesting that the invasive mycobacteriosis might result from defective intracellular killing of CGD-phagocytes.

Treatment of intractable gastrointestinal manifestations of chronic granulomatous disease with cyclosporine

Gastrointestinal manifestations of chronic granulomatous disease of childhood include granulomatous inflammatory bowel disease. Severe colitis and perirectal disease developed in a 12-year-old boy with chronic granulomatous disease while he was receiving interferon gamma therapy. The boy had a deficiency of the 22 kd light chain of the cytochrome b heterodimer. After conventional medical therapy proved to be ineffective, a rapid clinical response was obtained to cyclosporine. (J P EDIATR 1995;126:143-5)

Neonatal pericarditis as a presenting manifestation of chronic granulomatous disease

Neonatal pericarditis as a presenting manifestation of chronic granulomatous disease

Small Bowel Obstruction in Chronic Granulomatous Disease

Small Bowel Obstruction in Chronic Granulomatous Disease

Orofacial manifestations of chronic granulomatous disease of childhood

Chronic granulomatous disease of childhood is a rare partial defect of leukocyte microbicidal function. Four cases studied with particular regard to orofacial lesions are presented.

Oral manifestations of chronic granulomatous disease

Chronic granulomatous disease (CGD) has been recognized as a specific entity since 1957. Although a significant number of patients with this inherited disorder of leukocyte function exhibit oral manifestations which might be seen by the dentist, the dental literature contains no descriptions of this disease. The purpose of this article is to present a case of CGD exhibiting oral lesions, to document these lesions clinically and histopathologically, and to discuss the differential diagnosis of this disorder.

Granulomatous cystitis as a manifestation of chronic granulomatous disease of childhood.

Granulomatous cystitis as a manifestation of chronic granulomatous disease of childhood.

Granulocytopathies: Pleomorphism of neutrophil dysfunction

This report describes three children, two boys and one girl, with the clinical manifestations of chronic granulomatous disease of childhood (CGD), a disease thought to be transmitted as an X-linked recessive trait. In vitro studies of neutrophils from the patients showed a defect characteristic of CGD, marked impairment of the ability to kill opsonized bacteria. The ability of the neutrophils to ingest bacteria was normal, and no structural or morphologic abnormalities could be discerned by electron microscopy. Heterozygosity for the neutrophil defect was demonstrated in the mother of one patient; however, this boy had a deficiency of serum IgA. A heterozygous state was not demonstrable in the parents or first-degree relatives of the other boy or the girl. The findings in these patients suggest that several types of neutrophil dysfunction syndromes exist. A proposed classification of neutrophil dysfunction syndromes, based on the present cases and other cases reported in the literature, is presented.

A selective neutrophil dysfunction syndrome: impaired killing of staphylococci.

Abstract In vitro studies of neutrophils from a young man with the clinical manifestations of chronic granulomatous disease of childhood revealed a selective inability to kill opsonized staphylococ...