No abstract

This first report of a Swiss registry includes 313 patients with primary immunodeficiency syndromes (PIDS) who were observed between January 1975 and January 1985. Diagnosis of specific PIDS was made according to WHO criteria. The most frequent disorders were IgA deficiency (33%) and common variable immunodeficiency (22%), followed by selective deficiency of other immunoglobulin isotypes (9%), severe combined immunodeficiency (9%), infantile sex-linked agammaglobulinemia (7%), and Wiskott-Aldrich syndrome (6%). Frequencies of other types of PIDS varied between 0.3 and 4%. Half of the patients were in the pediatric age group. Male patients predominated (63%). In addition to respiratory and urogenital tract infections, autoimmune disorders were observed in 14 patients with IgA deficiency or common variable immunodeficiency. IgA deficiency was, furthermore, associated with atopic and neurological disorders. A comparison with other national registries revealed some differences: the frequency of severe combined immunodeficiency was high (incidence, 24.3 cases per 10(6) live births), and that of ataxia teleangiectasia was particularly low (1.4 per 10(6) live births) in Switzerland. Frequencies of the three major PIDS groups of (i) predominantly antibody defects, (ii) predominantly cell-mediated defects, and (iii) PIDS associated with other major defects agreed with those reported in the other European studies.

ABSTRACT. We analyzed by means of immunoblot technique the patterns of antibodies binding to polypeptides of Borrelia burgdorferi B31 in the sera of 21 children with different stages of Lyme disease. All sera but one recognized the flagellar protein 41 kD and all but two the 83-kD protein. The number of proteins recognized rose from clinical stage I to stage 111. The polypeptides of the mol wt 55 and 31 kD were exclusively bound by IgM and the proteins 66, 58, 39, and 36 kD exclusively by IgG. Based on the number of proteins visualized by single sera, IgM was the predominant isotype in stages I and I1 peaking in stage 11, whereas in stage I11 IgG predominated. Considering the number of proteins recognized and the corresponding antibody isotype, a serologic differentiation between the three stages of the disease is feasible: within stage I and within stage I11 patients with different clinical signs had distinct antibody patterns. No clearcut pattern could be discriminated in stage I1 for patients with different settings. Immunoblotting yields a possible distinction between active infection and serological scar by the detection of specific antibody patterns. (Pediatr Res 26:377-382, 1989)

No abstract

A 9-year-old boy with hyperimmunoglobulin-E-syndrome (HIE) and craniosynostosis is reported. Premature fusion of the sagittal and lambdoid suture led to scaphocephaly. A partial optic atrophy without clinical signs of raised intracranial pressure was observed. This is the fourth reported case of craniosynostosis in HIE. Bone anomalies like osteoporosis are frequent findings in HIE. Apart from their clinical impact they could be related to factors involved in the pathogenesis of HIE, such as impairment of chemotaxis in tissues or monocyte differentiation.

This review illustrates the historic events that led to the discovery, classification, and molecular definition of PID.

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Quinone and hydroquinone forms of rifampin accumulated in normal polymorphonuclear leukocytes (PMN) (maximal cellular to extracellular concentration ratio [C/Emax] ± standard error of the mean, 9.36 ± 0.54 and 8.82 ± 0.65, respectively, after 5 to 10 min) and chronic granulomatous disease PMN (C/Emax, 13.76 0.77 and 14.29, respectively). Uptake of rifampin was influenced by incubation temperature and extracellular pH but not by phorbol myristate acetate stimulation or metabolic inhibitors. At extracellular concentrations between 0.06 and 5.0 mg/liter, rifampin significantly reduced the number of staphylococci surviving inside chronic granulomatous disease PMN, thus compensating for the bactericidal defect inherent with this disease. Spontaneous migration and chemotaxis of normal PMN were unaffected by rifampin. However, phagocytosis of yeast particles and oxygen consumption of stimulated PMN were moderately depressed, and O2-production and chemiluminescence were significantly depressed in a dose-dependent manner. The bactericidal activity of normal PMN was not impaired. Inhibition of chemiluminescence and O2-release were also observed in a cell-free system. We conclude that rifampin possesses favorable characteristics for the effective elimination of intracellular microorganisms. Further studies are needed to evaluate the in vivo significance of ion scavenging by rifampin, which could be hazardous to immunocompromised patients.