Treosulfan-based conditioning regimen in a second matched unrelated peripheral blood stem cell transplantation for a pediatric patient with CGD and invasive aspergillosis, who experienced initial graft failure after RIC.

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by a defect of phagocyte NADPH-oxidase and characterized by severe, recurrent bacterial and fungal infections. Invasive aspergillosis (IA) is the leading cause of mortality in patients with CGD. We report the case of a 3-year-old boy with CGD, who developed IA despite antifungal prophylaxis.

Chronic granulomatous disease: the European experience.

CGD is an immunodeficiency caused by deletions or mutations in genes that encode subunits of the leukocyte NADPH oxidase complex. Normally, assembly of the NADPH oxidase complex in phagosomes of certain phagocytic cells leads to a "respiratory burst", essential for the clearance of phagocytosed micro-organisms. CGD patients lack this mechanism, which leads to life-threatening infections and granuloma formation.

[Difficulties in diagnostics and therapy of infectious complications in primary immunodeficient patients].

Primary immunodeficiencies (PIDs) are group of more than 200 different genetic disorders. Reccurrent, severe infections are major clinical manifestation of these disorders. Ethiology and course of infections in PIDs are different, depending on type of immunodeficiency.

[Chronic neutropenia - experience from the Department of Immunology, Children's Memorial Health Institute].

Unlabelled: Chronic neutropenia (CN) is defined by an absolute neutrophil count (ANC) below 1500/ul, lasting at least 6 months.

Aim: clinical course and treatment of children afflicted with CN was analysed.

Material And Methods: we present 60 children treated in our department due to CN.

Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase.

Chronic granulomatous disease (CGD) is an inherited immunodeficiency caused by defects in any of four genes encoding components of the leukocyte nicotinamide dinucleotide phosphate, reduced (NADPH) oxidase. One of these is the autosomal neutrophil cytosolic factor 1 (NCF1) gene encoding the p47phox protein. Most (>97%) CGD patients without p47phox (A47 degrees CGD) are homozygotes for one particular mutation in NCF1, a GT deletion in exon 2.

[Diagnosis and treatment of aspergillosis in the patients with chronic granulomatous disease].

Chronic granulomatous disease is a rare defect of phagocytosis. Increased susceptibility to infections is limited to catalase positive bacteria and fungi. Aspergillus spp was reported as the increased clinical problem and the main cause of the deaths.

The search for a genetic defect in Polish patients with chronic granulomatous disease.

Introduction: Chronic granulomatous disease (CGD)is a rare inherited disorder in which phagocytic cells are unable to generate superoxide anions. Patients with CGD are predisposed to recurrent bacterial and fungal infections because the superoxide-generating NADPH oxidase activity is needed for efficient killing of microbes. Among the at least 5 subunits cre-ating a functional NADPH oxidase, a molecular defect located in any of the gp91phox, p22phox, p47phox, or p67phox subunits may cause CGD.