Chronic Granulomatous Disease Presenting Research Articles

Posaconazole for treatment of refractory invasive fungal disease

Invasive fungal infections are usually associated with immunocompromised states About 40-60% of these patients are refractory to standard antifungal therapy We describe the effect of posaconazole in the treatment of a 12 years-old girl with uncontrolled diabetes mellitus with life-threatening cerebral mucor mycosis and a 4 year old girl boy with chronic granulomatous disease presenting with invasive Aspergillus nidulans infection.

Chronic Granulomatous Disease Presenting with CD4 Lymphopenia

Chronic Granulomatous Disease Presenting with CD4 Lymphopenia

The Acetobacteraceae: Extending the Spectrum of Human Pathogens

The Acetobacteraceae: Extending the Spectrum of Human Pathogens

Anterior chest wall protrusion as initial presentation of chronic granulomatous disease: a case report

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disease characterized by recurrent life-threatening bacterial and fungal infections. We report a 4-month-old girl with CGD, was firstly presented with an anterior chest wall protrusion because of an aspergillosis mass.

Chronic granulomatous disease presenting with disseminated intracranial aspergillosis

We describe an 8-year-old boy who presented with multiple unresectable aspergillus brain abscesses as the initial presentation of X-linked chronic granulomatous disease (CGD). He failed initial therapy with amphotericin B, but was subsequently salvaged with voriconazole. CGD should be considered in the differential diagnosis for all children presenting with invasive fungal infections, particularly, those involving the central nervous system (CNS). Whereas, optimal pharmacologic therapy is still unknown for CNS aspergillosis, voriconazole may have an advantage due to its ability to cross the blood brain barrier and excellent oral absorption and bioavailability.

X-linked Chronic Granulomatous Disease presenting in a 16 year old female secondary to skewed X chromosome inactivation

X-linked Chronic Granulomatous Disease presenting in a 16 year old female secondary to skewed X chromosome inactivation

Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB

AbstractMost patients with chronic granulomatous disease (CGD) have mutations in the X-linked CYBB gene that encodes gp91phox, a component of the phagocyte NADPH oxidase. The resulting X-linked form of CGD is usually manifested in boys. Rarely, X-CGD is encountered in female carriers with extreme expression of the mutated gene. Here, we report on a woman with a novel mutation in CYBB (CCG[90-92] → GGT), predicting Tyr30Arg31 → stop, Val in gp91phox, who presented with clinical symptoms at the age of 66. The mutation was present in heterozygous form in genomic DNA from her leukocytes but was fully expressed in mRNA from these cells, indicating that in her leukocytes the X chromosome carrying the nonmutated CYBB allele had been inactivated. Indeed, only 0.4% to 2% of her neutrophils showed NADPH oxidase activity. This extreme skewing of her X-chromosome inactivation was not found in her cheek mucosal cells and is thus not due to a general defect in gene methylation on one X chromosome. Moreover, the CYBB mutation was not present in the DNA from her cheek cells and was barely detectable in the DNA from her memory T lymphocytes. Thus, this patient shows a somatic mosaic for the CYBB mutation, which probably originated during her lifetime in her bone marrow.

Severe phenotype of chronic granulomatous disease presenting in a female with a de novo mutation in gp91-phox and a non familial, extremely skewed X chromosome inactivation

Chronic granulomatous disease (CGD) is an inherited immunodeficiency resulting from defects in the multienzyme complex NADPH–oxidase (phagozyte oxidase, phox), which normally produces microbicidal reactive oxygen metabolites (ROM). The reason for our patient's CGD was unusual, as revealed by the following in vitro findings in neutrophils and EBV-transformed B-cells: lack of flavocytochrome b 558 expression, restoration of significant ROM production after transduction with gp91-phox cDNA by a retrovirus vector, an 879G→A, Trp289→Stop mutation in one X chromosomal gp91-phox allele, a one-sided paternal X chromosome inactivation, as shown by a lyonization assay at the HUMARA locus, and the result of a dihydrorhodamine 123 flow cytometry assay revealing consistently that 1 in 2500 neutrophils produced ROM at normal levels. Our conclusion: A presumed autosomal form of CGD has been excluded. Instead, a spontaneous mutation in gp91-phox coinciding with an extreme X chromosome inactivation ratio resulted in X-linked CGD in this young woman.

MR diagnosis of pulmonary and chest wall aspergillosis as an initial presentation of chronic granulomatous disease in a 7-month-old male

MR diagnosis of pulmonary and chest wall aspergillosis as an initial presentation of chronic granulomatous disease in a 7-month-old male

A Rare Form of Chronic Granulomatous Disease (Type Iva) Presenting as Inflammatory Bowel Disease

Neutrophil dysfunction syndromes can sometimes mimic the clinical and pathological features of inflammatory bowel disease. The case of a 3.5-year-old boy with chronic diarrhea, abdominal pain, poor growth since infancy and microcytic, hypochromic anemia is presented. After an extensive diagnostic evaluation, he was found to have a rare variant (type IVA) of chronic granulomatous disease. His gastrointestinal symptoms markedly improved during therapy with gamma-interferon. Chronic granulomatous disease can present initially with a clinical picture suggestive of chronic intestinal inflammation. Therefore it should be considered in the differential diagnosis of atypical inflammatory bowel disease, both in children and young adults.

Prevalence, genetics and clinical presentation of chronic granulomatous disease in Sweden.

To estimate the prevalence of chronic granulomatous disease (CGD) in Sweden, an inquiry asking for known and possible CGD cases was mailed to paediatric, internal medicine and infectious disease departments all over Sweden. The detected patients were characterized as to genetics and the clinical presentation. Twenty-one patients (belonging to 16 different families) were found, corresponding to a prevalence of approximately 1/450,000 individuals. The patients with X-linked disease, lacking a functional gp91phox protein (n = 12), comprised 57% and 43% of the patients had an autosomal recessive (AR) disease lacking p47phox (n = 7) or p67phox (n = 1), respectively. All unrelated patients with X-linked disease displayed different gene abnormalities such as point mutations predicting nonsense (n = 3), missense (n = 1) or splice site mutations (n = 2), but also a total deletion and a unique 40 base pair duplicature insertion. The patients with p47phox-deficiency showed a GT deletion at a GTGT tandem repeat, and the p67phox-deficient patient displayed a heterozygous in-frame deletion of AAG combined with a large deletion in the other allele. Three patients died during the study period, two from pseudomonas cepacia infections. Patients with X-linked disease had more frequent infections (mean of 1.7 per year), than the patients with AR inheritance (0.5 infections per year). The most common infections were dermal abscesses (n = 111), followed by lymphadenitis (n = 82) and pneumonias (n = 73). Inflammatory bowel disease-like symptoms, mimicking Crohn's disease of the colon, was seen in three CGD patients.

RelapsingSalmonella enteritidisinfection in a young adult male with chronic granulomatous disease

A case of chronic Salmonella enteritidis infection in a young adult patient is reported. Following an initial enteritis with bacteraemia, the illness lasted for a 7-year period and was characterized by recurrent pyrexia, anaemia, weight loss and marked hepatosplenomegaly. Investigations revealed that the patient suffers from a mild form of chronic granulomatous disease presenting in adolescence.

Chronic granulomatous disease presenting as xanthogranulomatous pyelonephritis in late childhood

Chronic granulomatous disease presenting as xanthogranulomatous pyelonephritis in late childhood