Chronic granulomatous disease in Latin American patients: clinical spectrum and molecular genetics.

BACKGROUND: Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by early onset of recurrent and severe infections. The molecular defects causing CGD are heterogeneous and lead to absence, low expression, or malfunctioning of one of the phagocyte NADPH oxidase components. The aim of this study was to analyze the clinical features and to investigate the molecular genetic defects of Latin American patients with CGD. PROCEDURES: The study included 14 patients. The diagnosis was based on a history of recurrent severe infections, impaired respiratory burst, and the demonstration of an underlying mutation by single strand conformation polymorphism (SSCP) or RT-PCR analysis, followed by genomic DNA or cDNA sequencing. RESULTS: Seven unrelated patients were found to have the X-linked form of CGD (X-CGD). Heterogeneous mutations affected the CYBB gene: two insertions, one substitution, and four splice site defects; two of them are novel. Seven patients presented with one of the autosomal recessive forms of CGD (A47-CGD); all had the most common mutation, a DeltaGT deletion in exon 2 of the NCF1 gene. Pneumonia was the most frequent clinical feature, followed by pyoderma, sinusitis, otitis, and liver abscess. Patients with X-CGD were more likely to have initial infections before age 2 years and to have inflammatory obstructive granulomas later. None of the patients had severe adverse reactions to BCG immunization. CONCLUSIONS: X-CGD patients from Latin America showed a high degree of molecular heterogeneity, including two novel mutations. Their clinical characteristics included early onset of infections and eventual obstructive granulomas. A47-CGD represented 50% of the reported cases, a higher prevalence than reported in other series.

Clinical and laboratory aspects of chronic granulomatous disease in description of eighteen patients.

To describe the epidemiological, clinical, laboratory, and evolution characteristics of 18 patients with chronic granulomatous disease (CGD). In this retrospective study, clinical, laboratory, and epidemiological data were obtained from the medical records of all patients with CGD seen at the Allergy and Immunology Unit of the Pediatrics Department (School of Medicine, University of Sao Paulo) from January 1979 to December 2001. Medical history and physical examination data, personal and family history, presence of consanguinity, weight and height data, presence of hepatosplenomegaly, adenomegaly, or other relevant alterations at the time of admission were obtained for all patients. We reviewed 18 patients (male:female, 8:1) with a median duration of symptoms of 1.25 months and with a median time since diagnosis of 13 months. A family history of death as a result of infection was reported by three patients and five other patients had a common relative with CGD who was included in the series. The clinical manifestations observed were: failure to thrive, adenomegaly, hepatosplenomegaly, pneumonia, and abscesses. Relevant laboratory data were hypergammaglobulinemia and nitroblue tetrazolium reduction test of 0% in 14 patients. Seven patients received IFN-gamma and 11 sulfamethoxazole-trimethoprim. Six patients died of suppurative pulmonary infections. Age at the onset of symptoms was early, although diagnosis was late in some patients. Pulmonary involvement was the most prevalent clinical manifestation in the different phases of the disease and the major cause of death. Hypergammaglobulinemia, anemia, and leukocytosis were relevant laboratory data.

Phadiatop® no diagnóstico de alergia respiratória em crianças: Projeto Alergia (PROAL) / Phadiatop® in the diagnosis of respiratory allergy in children: Allergy Project - PROAL

OBJETIVO: Avaliar a positividade do Phadiatop® em crianças acompanhadas em serviços brasileiros de alergologia e compará-la aos resultados de IgE sérica específica a alérgenos inalantes e alimentares. CASUíSTICA E MÉTODO: Em 457 crianças acompanhadas em serviços de alergia pediátrica e um grupo de crianças controle não-alérgicas (n = 62), distribuídas em cinco faixas etárias, foram determinados em amostra de soro: Phadiatop® e IgE específica (RAST) a alérgenos inalantes e alimentares (UniCAP - Pharmacia®). RESULTADOS: O Phadiatop® foi positivo em 305 crianças atópicas (67,6 por cento) e em 25,8 por cento das controles (p < 0,001). Entre as crianças atópicas, a distribuição de positividade variou de acordo com a faixa etária: 7,9 por cento (24/305) entre as abaixo de 2 anos, 15,4 por cento (47/305) nas de 2 a 3 anos, 22,0 por cento (67/305) nas de 3 a 4 anos, 19,3 por cento (59/305) nas de 4 a 5 anos e 35,4 por cento (108/305) nas de 5 a 12 anos. Não houve concordância entre os alérgenos alimentares e a presença de Phadiatop® positivo. O estudo da relação entre os RAST positivos para alérgenos inalados e o Phadiatop® positivo mostrou melhores índices com os ácaros domiciliares (D. pteronyssinus, D. farinae e Blomia tropicalis). CONCLUSÕES: O Phadiatop®é método útil no diagnóstico de alergia aos ácaros domiciliares.

Caso em foco: síndrome de Chediak-Higashi / Case in jocus: Chediak-Higashi syndrome

Os autores apresentam um caso da Síndroma de Chediak-Higashi em crianças de dois anos de idade que faleceu no 13 dia de internaçäo. Säo apresentados os achados anátomo-patológicos e comentados os aspectos imunológicos da síndroma