Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: KEGG:D02003 (NBT)
 1,323 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Chronic granulomatous disease: six new cases. 988 32