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Chronic granulomatous disease: six new cases
M A Martín Mateos1, M Alvaro, M T Giner
1Immunoallergy Section, Pediatrics Unit, Hospital Clínico-Hospital San Juan de Dios, University of Barcelona.
Insights
Six new cases of chronic granulomatous disease (CGD), a primary immunodeficiency, were diagnosed. Early-onset, severe bacterial and fungal infections were common, with diagnosis confirmed by NBT and chemiluminescence tests.
Area of Science:
- Immunology
- Pediatrics
- Genetics
Background:
- Chronic granulomatous disease (CGD) is a primary immunodeficiency affecting phagocyte function.
- Early diagnosis and management are crucial for improving patient outcomes.
- Understanding the genetic basis and clinical spectrum is vital for effective treatment.
Observation:
- Six new CGD cases were identified, representing 1.1% of primary immunodeficiencies.
- Four cases were male, two female, with X-linked and autosomal recessive inheritance patterns observed.
- Clinical manifestations, including severe bacterial and fungal infections, appeared before age two, earlier and more severely in males.
Findings:
- Common infections included liver, lung, and skin abscesses, lymphadenitis, and mastoiditis; osteomyelitis was absent.
- Isolated pathogens comprised various bacteria (Staphylococcus, Salmonella, Serratia, Pseudomonas, Enterococcus) and fungi (Candida, Aspergillus, Trichopyton).
- Diagnostic indicators included leukocytosis, elevated acute phase reactants (PCR, VSG), hypergammaglobulinemia, and high LB/LT4 levels, confirmed by NBT and chemiluminescence tests.
Implications:
- This study highlights the prevalence and diverse clinical presentations of CGD in pediatric patients.
- Accurate diagnosis through NBT and chemiluminescence tests is essential for timely intervention.
- Further research into genetic factors and treatment strategies can improve the management of CGD.
Abstract:
We report six new cases of chronic granulomatous disease (CGD) diagnosed at our service. The cases represent 1.1% of all primary immunodeficiencies diagnosed. Four of the children were boys and two were girls. The hereditary mechanism was X-linked in three cases and autosomal recessive in the other three. Clinical manifestations appeared before the age of 2 years in all cases; the illness appeared earlier in males, and was more severe, consisting of bacterial infections such as abscesses in the liver, lungs or skin, suppurating lymphadenitis and mastoiditis. None of the patients had osteomyelitis. The germs isolated were bacteria (Staphylococcus, Salmonella, Serratia, Pseudomonas, Enterococcus) and fungi (Candida, Aspergillus, Trichopyton). Orientative complementary evidence was intense leukocytosis, high levels of acute phase reactants (PCR and VSG), polyclonal hypergammaglobulinemia and high LB ant LT4 levels. Definitive diagnosis was provided by the NBT test and chemiluminescence in all cases.