Skin fibroblasts were cultured from 15 patients with primary immunodeficiency diseases associated with a high cancer risk, including sex-linked agammaglobulinemia, IgA deficiency, variable immunodeficiency, ataxia-telangiectasia (cerebellar malfunction and abnormalities of blood vessels and immune response), Wiskott-Aldrich syndrome (low platelet count, eczema, and abnormal immune mechanism), a...

Since the original description of X-linked agammaglobulinemia in 1952, the number of independent primary immunodeficiency diseases (PIDs) has expanded to more than 100 entities. By definition, a PID is a genetically determined disorder resulting in enhanced susceptibility to infectious disease. Despite the heritable nature of these diseases, some PIDs are clinically manifested only after prereq...

We report on a case of bacteremia caused by a previously unknown urease-negative Helicobacter strain, IMMIB HP-28/08, isolated from blood cultures of a 28-year-old man with X-linked agammaglobulinemia. The identification of the isolate was based on 16S rRNA gene sequencing. In the phylogenetic tree, the isolate fell into a cluster which included Helicobacter canadensis, Helicobacter equorum, an...

A patient with agammaglobulinemia developed acute hepatitis that progressed to chronic liver disease with high levels of hepatitis B virus (HBV) DNA in the absence of detectable HBsAg. Sequencing of the a determinant region of HBsAg revealed multiple amino acid substitutions that, unusually, also included a substitution at position 122 that defines subtype specificity. All of these mutations ha...

X-linked agammaglobulinemia also known as Bruton’s disease, is a humoral immunodeficiency disease characterized by recurrent bacterial infections due to low levels or absence of serum immunoglobulins. It has been shown to be caused by mutations in the gene encoding Bruton tyrosine kinase. Although bacterial infections typically begins 6 9 months after birth when maternal IgG is reduced below th...

By DOROTHEA ZUCKER-FRANKLIN, EDWARD C. FRANKLIN AND NORMAN S. COOPER T HE ROLE of the plasma cell in the synthesis of y-globulin has been readily accepted because of the excellent correlation found between the number of plasma cells in tissues, the ability to form antibodies, and the level of y-globulin in the serum. Thus, there is a lack of plasma cells in agammaglobulinemia, an increase in pl...

We describe a 3-year-old boy (P-FR1) from consanguineous white parents lacking immunoglobulins despite normal total B-cell numbers. Healthy until the age of 18 months, he developed recurrent respiratory infections, followed by progressive central nervous system disease with spastic tetraparesis 24 months onward. Cerebral magnetic resonance imaging revealed enlarged outer cerebral spinal fluid s...

This white male child was normal until the age of 6 months when he began to have recurrent upper respiratory and gastrointestinal infections. When he was 18 months old, he developed poliomyelitis and was left with some residual weakness of the legs. A few months later a diagnosis of dermatomyositis was made on the basis of generalized muscle weakness, induration of the skin, and chronic inflamm...