title: Visceral leishmaniasis and other severe infections in an adult patient with p47-phox-deficient chronic granulomatous disease.
abstract: We report a rare case of a male patient without known immunodeficiency consecutively diagnosed with visceral leishmaniasis, brain abscess and cavitating pneumonia in the 3rd decade of life. Chronic granulomatous disease (CGD) was diagnosed by a nitroblue tetrazolium test. A p47-phox mutation of the NADPH oxidase of the leukocytes was suspected by immunoblotting and confirmed by DNA analysis. The patient was homozygous for this mutation while his mother and sister were heterozygous asymptomatic carriers. After the CGD diagnosis the patient started a chronic prophylactic regimen with subcutaneous interferon-gamma (0.05 mg/m2 of body surface/three times a week), and oral trimethoprim-sulfamethoxazole and itraconazole (both at 5 mg/kg/day) with no subsequent infections after 12 months of follow-up.
authors.affiliation: Infectious Diseases Unit, Hospital Central de Asturias, Oviedo University Medical School, Spain. vasensia@medynet.com
authors.forename: V
authors.initials: V
authors.lastname: Asensi
authors.forename: L
authors.initials: L
authors.lastname: Tricas
authors.forename: A
authors.initials: A
authors.lastname: Meana
authors.forename: D
authors.initials: D
authors.lastname: Roos
authors.forename: J A
authors.initials: JA
authors.lastname: Carton
authors.forename: J A
authors.initials: JA
authors.lastname: Maradona
authors.forename: M F
authors.initials: MF
authors.lastname: Fresno
authors.forename: E
authors.initials: E
authors.lastname: Valle
authors.forename: J
authors.initials: J
authors.lastname: Fierer
authors.forename: J M
authors.initials: JM
authors.lastname: Arribas
mesh_terms: D000328:Adult; D000818:Animals; D000890:Anti-Infective Agents / Q000627:therapeutic use*; D000913:Antibodies, Protozoan / Q000097:blood; D001853:Bone Marrow / Q000469:parasitology / Q000473:pathology; D005500:Follow-Up Studies; D006105:Granulomatous Disease, Chronic / Q000097:blood / Q000150:complications* / Q000201:enzymology; D006720:Homozygote; D006801:Humans; D007371:Interferon-gamma / Q000627:therapeutic use; D007893:Leishmania donovani / Q000276:immunology / Q000302:isolation & purification*; D007898:Leishmaniasis, Visceral / Q000150:complications* / Q000188:drug therapy / Q000469:parasitology; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D019255:NADPH Oxidases / Q000172:deficiency*; D010750:Phosphoproteins / Q000172:deficiency*; D013030:Spain; D015662:Trimethoprim, Sulfamethoxazole Drug Combination / Q000627:therapeutic use
chemical_list: D000890:Anti-Infective Agents; D000913:Antibodies, Protozoan; D010750:Phosphoproteins; D015662:Trimethoprim, Sulfamethoxazole Drug Combination; D007371:Interferon-gamma; D019255:NADPH Oxidases; C060505:neutrophil cytosolic factor 1