[Selective immunoglobulin A deficiency]. / Wrodzony izolowany niedobór immunoglobuliny A.

Immunoglobulin class A is the main protein of the mucosal immune system. Selective immunoglobulin A deficiency (sIgAD) is the most common primary immunodeficiency in Caucasians. sIGAD is strongly associated with the certain major histocompatibility complex region. Most individuals with sIgAD are asymptomatic and identified coincidentally. However, some patients may present with recurrent infections, allergic disorders and autoimmune manifestations. Several autoimmune diseases, such as systemic lupus erythematosus, diabetes mellitus type 1, Graves disease and celiac disease, are associated with an increased prevalence of sIgAD. Screening for sIgAD in coeliac disease is essential. Patients need treatment of associated diseases. It is also known that IgA deficiency may progress into a common variable immunodeficiency (CVID). Pathogenesis and molecular mechanism involved in sIgAD should be elucidated in the future.

[Syndrome of extrahepatic portal hypertension and chronic abdominal ischemia in patient with subleukemic myelosis and congenital immunodeficiency].

The article demonstrates objective difficulties and subjective mistakes in assessment of a clinical picture in a patient with subleukemic myelosis and thrombosis of the portal system. A careful examination of such patients is necessary to reveal latent disorders (in this case--a complete selective IgA deficiency) influencing treatment policy.

Mapping susceptibility gene locus for IgA deficiency at del(18)(q22.3-q23); report of familial cryptic chromosome t(18q; 10p) translocations.

This study presents a clinical report of the Finnish chromosome t(18q; 10p) translocation family with an overview of eight other selected immunoglobulin A (IgA)-deficient 18q deletion (18q-) patients from seven published articles. The family members show features common to 18q- syndrome such as mental retardation, multiple facial dysmorphism, foot/hand deformities, abnormal myelination of brain white matter, and a spectrum of immunological/infectious disorders including IgA deficiency (IgAD). Genotype-phenotype correlation study of the unbalanced t(18q-; 10p+) translocation family members and other 18q- syndrome reports led to definition of a potential susceptibility gene locus for IgAD at distal region of 18q22.3-q23 between markers D18S812-18qter. The haplo-insufficiency of the 18q22.3-q23 gene region is suggested to be a cause of the IgAD phenotype in 18q- individuals. This 7 Mb IgAD critical region shows significant association with susceptibility region for celiac disease that is frequently connected to IgAD.

Deficiência de IgA / IgA deficiency

Objetivo: Estudar a deficiência de imunoglobulina A (IgA) nos aspectos clínicos, labaoratoriais e terapêuticos. Métodos: Revisäo bibliográfica dos últimos dez anos, abordando o tema por meio do sistema Medline e procura direta. Resultados e conclusöes: Por ser a imunodeficiência primária mais freqüente, com prevalência média de 1:700, a deficiência de IgA deve ser estudada em seus apectos clínicos, laboratoriais e terapêuticos pelo pediatra e subespecialistas pediátricos. As características clínicas da imunodeficiência total e parcial ou transitória devem ser conhecidas, assim como as complicaçöes e as técnicas laboratoriais, intuito de se estabelecer diagnóstico e prognóstico corretos.