Abstract
57 patients with suspected or proven immunodeficiency disorders were evaluated. Clinical diagnoses using WHO criteria included common variable immunodeficiency (6), DiGeorge Syndrome (6), X-linked hypogammaglobulinemia (5), IgA deficiency (5), ataxia-telangiectasia (4), mucocutaneous candidiasis (4), transient hypogammaglobulinemia (4), chronic granulomatous disease (3), severe combined immunodeficiency (2), and miscellaneous disease states (18). Immunological evaluation included CBC and differential, lymphocyte subset analysis with monoclonal antibodies, in vitro responses to mitogens, in vitro immunoglobulin production, serum immunoglobulin profiles and serological titers to tetanus toxoid, pneumococcal polysaccharide antigen, and EBV. Despite homogenous clinical findings in each group, laboratory results showed marked variability. For example, in patients clinically diagnosed as DiGeorge Syndrome, representation of OKT3+ lymphocytes ranged from 3-73%, OKT4+ 3-64%, OKT8+ 3-33% and sIg+ 10-56%. Four children with recurrent infections, but fitting no clinically defined immune deficiency disorder, and six first degree relatives of immunodeficiency patients performed normally in all the above assays (supplemented where appropriate with in vitro studies of PMN function. While laboratory studies complement the clinical findings and may exclude certain immunodeficiency disorders, they should not be used as the primary basis for diagnosis.
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Nagel, J., Bender, B., Adler, W. et al. 1010 LABORATORY FINDINGS IN VARIOUS CONGENITAL IMMUNODEFICIENCIES. Pediatr Res 19, 279 (1985). https://doi.org/10.1203/00006450-198504000-01040
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DOI: https://doi.org/10.1203/00006450-198504000-01040