Prevalence of Primary Immunodeficiency in Korea

This study represents the first epidemiological study based on the national registry of primary immunodeficiencies (PID) in Korea. Patient data were collected from 23 major hospitals. A total of 152 patients with PID (under 19 yr of age), who were observed from 2001 to 2005, have been entered in this registry. The period prevalence of PID in Korea in 2005 is 11.25 per million children. The following frequencies were found: antibody deficiencies, 53.3% (n = 81), phagocytic disorders, 28.9% (n = 44); combined immunodeficiencies, 13.2% (n = 20); and T cell deficiencies, 4.6% (n = 7). Congenital agammaglobulinemia (n = 21) and selective IgA deficiency (n = 21) were the most frequently reported antibody deficiency. Other reported deficiencies were common variable immunodeficiencies (n = 16), X-linked agammaglobulinemia (n = 15), IgG subclass deficiency (n = 4). Phagocytic disorder was mostly chronic granulomatous disease. A small number of patients with Wiskott-Aldrich syndrome, hyper-IgE syndrome, and severe combined immunodeficiency were also registered. Overall, the most common first manifestation was pneumonia. This study provides data that permit a more accurate estimation PID patients in Korea.

A Case of Fabry's Disease with Congenital Agammaglobulinemia

Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the alpha-galactosidase A (GLA) gene, which leads to a GLA deficiency and to the intracellular deposition of globotriaosylceramide (Gb3) within vascular endothelium and other tissues. It manifests as progressive multiple organ dysfunctions caused by the deposition of Gb3. On the other hand, congenital agammaglobulinemia is usually caused by mutations in Bruton's tyrosine kinase (Btk) gene with X-linked dominence, suppresses B cell maturation, and causes recurrent pyogenic infections. In former reports, the distance between the loci in the Xq22 region of the human X chromosome was found to be about 69 kilobases. A 23-yr-old man diagnosed with congenital agammaglobulinemia at age 5, showed typical clinical and laboratory and histopathological findings of Fabry's disease. The genetic basis of this combination of the two syndromes was studied in this patient. Here, we report a case of Fabry's disease with congenital agammaglobulinemia.

Dificient expression of brouton's tyrosine kinase in monocytes from x linked agmmaglobulinemia as evaluated by a flow cytometric analysis and its clinical application to carrier detection

The B-cell defect in X-linked agammaglobulinemia [XLA] is caused by mutations in the gene for Bruton's tyrosine kinase [BTK]. BTK mutations result in deficient expression of BTK protein in peripheral blood monocytes. Using the anti-BTK monoclonal antibody [48-2H], a flow cytometric analysis of intra cytoplasmic BTK protein expression in monocytes was performed to identify Iranian patients with XLA phenotype. To examine the possible identification of XLA patients and female carriers by this assay, we studied 13 XLA families. The flow cytometric assay showed deficient expression of the BTK protein in 12 [92%] families. One patient exhibited a normal level of BTK expression. The cellular mosaicism of BTK expression in monocytes from obligate carriers was clearly shown in 9 of 12 [75%] families. The results suggested that most XLA patients have deficient expression of the BTK protein; therefore we conclude that deficient expression of BTK protein can be evaluated by a flow cytometric assay

Agamaglobulinemia congênita associada a infecçöes piogênicas disseminadas / Congenital agammaglobulinemia associated with disseminated pyogenic infection

Os autores apresentam o caso de paciente portador de agamaglobulinemia congênita cuja manifestaçäo clínica principal é abscessos cutâneos disseminados. Tecem comentários sobre sua provável etiologia e comprovam o efeito benéfico do tratamento de reposiçäo com gamaglobulina para uso intravenoso.

Agammaglobulinemia congénita: estudio de cinco casos / Congenital agammaglobulinemia: review of 5 cases

Se presentan 5 casos de agammaglobulinemia congénita (AC) en niños, con inicio de la sintomatología a los 3, 4, 6,7 y 18 meses de vida respectivametne. Las manifestaciones clínicas (procesos infecciosos) más comunes fueron: otitis (4)m diarreas recurrentes (4), meningitis (2), septicemia (2), artritis piogenas recurrente (1) e infección del tracto urinario (1). En la electroforesis de proteínas, los valores de la fracción gama fueron inferiores a 0.08mg/dL (0.008g/L). Los niveles de IgG, IgA, IgM e IgE séricas no fueron superiores a: 50 mg/dL; 2mg/dL, 35mf/dL y 20 UI/mL (0.50g/L; 0.02g/L; 0.35microng/L, respectivamente. La IgA salival no fue detectable en ningún paciente. Los niveles de CH50 fueron normales (3/3) con C3 elevado en todos (4/4). El cultivo de linfocitos, estimulado con fitohemoglutinina fue normal en los pacientes qen que fue realizada (4). La tipificación de linfocitos OKT3, OKT4 y OKT8 se encontraron normales ne los pacientes en que fue realizada (dos casos). La revisión de la literatura se realizó con enfoque especial al uadro clínico y de laboratorio en la AC. Agammaglobulinemia congénita; inmunodeficiencia primaria; inmunodeficiencia humoral

Agamaglobulinemia congênita / Congenital agammaglobulinemia

Descreve-se o caso de um menino de 5a10m, portador de agamaglobulinemia congênita, aparentemente sem herança ligada ao sexo. O diagnóstico foi realizado com base nos baixos níveis de IgG (70-90mg%), IgA e IgM näo detectáveis, ausência de linfócitos com imunoglobulinas de superfície (linfócitos B), ao lado de uma imunidade mediada por linfócitos T, normal. Além de pneumonias de repetiçäo, otite média supurada e sinusite maxilar prolongadas, o paciente apresentou quadro de poliartrite crônica em joelhos e quadril D, simulando uma artrite reumatóide seronegativa. O líquido sinovial foi estéril, com ausência de fraçäo gama à eletroforese de proteínas. HLA - A2, A29, B7, B44, CW2. Na discussäo, tece comentários sobre a abordagem global deste tipo de paciente, incluindo a socializaçäo, escolarizaçäo e psicoprofilaxia