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Injected immunoglobulins (= Ig) substitute for a patient's failing active antibody production = passive immunization. They provide immediate protection (time factor!). Commercially available human Ig-concentrates contain mainly IgG. Poly- and mono-specific preparations are available. Five indications are listed. Only the first, prophylactic use, is treated extensively, because it must be familiar to every physician. Correct application enables to avoid many viral diseases (e.g. measles), toxin-mediated diseases (e.g. tetanus), and erythroblastosis fetalis.

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A 22-year-old man with chronic mucocutaneous candidiasis (CMC) and hypothyroidism developed severe bronchiectases following recurrent bronchopneumonia. Immunological investigations revealed IgG2/IgG4 subclass deficiency and absence of antibodies against pneumococcal and Haemophilus polysaccharides. Under regular immunoglobulin substitution every 3 weeks pulmonary symptoms improved markedly.

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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 III. 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 II peaking in stage II, whereas in stage III 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 III patients with different clinical signs had distinct antibody patterns. No clearcut pattern could be discriminated in stage II for patients with different settings. Immunoblotting yields a possible distinction between active infection and serological scar by the detection of specific antibody patterns.

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A serological survey over a 1-year period of 1416 mothers at delivery and their 1434 offspring for the presence of anti-Borrelia burgdorferi antibodies revealed a prevalence of 0.85%. Clinically active Lyme disease during pregnancy was found in 1 of these 12 women with elevated titres and the child was born with a ventricular septal defect. Of six affected children, two had hyperbilirubinaemia, one muscular hypotonia, one was underweight for gestational age, one was macrocephalic, and one had supraventricular extrasystoles. Anomalous findings could not be attributed to B. burgdorferi due to a lack of serological evidence of intrauterine infection. Our data do not imply the need for serological screening in pregnancy, however, the importance of recognition and treatment of Lyme disease in pregnancy is emphasized.

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Relevant findings are reported in an 8-year-old boy with skin infection due to Staphylococcus aureus producing toxic shock syndrome toxin-1 without shock but with an increase in antibody titre against the toxin.

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The contribution of observations in congenital deficiency disorders to our understanding of normal mechanisms can hardly be overestimated, as may in particular be seen in the complex field of mechanisms aiming at maintaining the individual integrity. After a brief summary of the natural lines of defense we demonstrate a few cases with typical deficiencies, i.e. of the integuments (ciliary dyskinesia syndrome), of the phagocytes (chronic granulomatous disease = CGD), of specific immune reactions (antibody deficiency syndrome, severe combined immunodeficiency = SCID and syndromes with associated immunodeficiencies), and finally of the complement properdin system. Classification of these Primary Immunodeficiency Syndromes (= PIDS) with exceptional research potential as proposed by an expert panel of the WHO turned out to be quite useful also for the understanding of by far more frequent secondary disorders, in particular of the recently observed acquired immunodeficiency syndrome = AIDS due to an infection with the human immunodeficiency virus (= HIV). For pediatricians in industrialized countries, however, children with frequently recurring, but trivial infections are of considerable practical importance. A clear diagnostic concept is the necessary base for the proposed treatment, counselling and help for the inflicted parents.

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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.

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We describe a patient with delayed umbilical cord detachment, recurrent bacterial infections, and inability to form pus, despite persistent leucocytosis. Immunofluorescence studies with specific monoclonal antibodies showed a severe deficiency in the expression of alpha-chains of the receptor for the C3bi fragment of C3, complement receptor type 3, and the lymphocyte function antigen 1 molecule, found on neutrophil, monocyte and lymphocyte membranes. These membrane antigen defects were responsible for abnormalities in adhesive cell functions. Polymorphonuclear leucocytes demonstrated a markedly reduced chemiluminescence response as well as an impaired nitroblue tetrazolium test and superoxide generation to a particulate stimulus (zymosan), while the responses to a soluble stimulus (phorbol myristate acetate) were normal. In addition, random migration und chemotactic response to zymosan-activated serum were impaired. The lymphocytes demonstrated abolished natural killer cell cytotoxicity as well as abnormal humoral immunity and a lack of antibody response to pertussis and tetanus antigens.

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Acute lymphatic leukemia (common-ALL-Ag positive) was found to be the underlying disease in a 4-year-old boy with arthropathy, generalized rash and marked eosinophilia. ALL may be overlooked in the early stages. Cytochemical, chromosomal and immunological markers are needed to distinguish it from other leukemias. As shown by the data of 25 patients from the literature, hypereosinophilic syndrome (HES) influences morbidity and lethality. Hydroxyurea rapidly lowers the eosinophil counts and may therefore prevent the cardiac involvement typical of HES.

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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.

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Five Swiss subjects with hereditary acatalasemia (4 homo-, 1 heterozygous) were studied by a series of neutrophil function tests. H2O2 was added to a polymorphonuclear neutrophil leukocyte-suspension to produce a metabolic stress; neutrophil functions related to membrane deformation were subsequently found to be depressed, i.e., chemotaxis, membrane potential, and chemiluminescence. This mechanism might be one pathogenetic factor in the formation of mucosal ulcers in acatalasemic individuals.

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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.

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Earlier investigations have shown that the activity of autoimmune diseases appears to correlate with increased levels of the vitamin B12 (cobalamin)-binding serum protein, transcobalamin II (M. Fráter-Schröder et al., Schweìz. Med. Wochensch 110, 1441, 1980; M. Fráter-Schröde et al., Lancet 2, 238, 1978). These preliminary findings were confirmed and extended with regard to SLE in the present prospective study. The correlation of serum levels with the degree of disease activity (determined by clinical scoring of 44 patients with systemic lupus erythematosus (SLE), fulfilling four or more of the American Rheumatoid Association criteria) was shown to be most reliable for transcobalamin II (P less than 0.001), when compared to other serological parameters. An answer to the question "what induces increased levels of transcobalamin II in active SLE?" was sought by injecting 15 SLE patients with cyanocobalamin which influences plasma dynamics of transcobalamin II. Results indicate that transcobalamin II-cobalamin "clearance" is probably unchanged in SLE, and that increased production or stimulation of transcobalamin II secretion may be the cause of elevated plasma levels in active SLE.

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