[Could it be an immune defect? Background and diagnosis].
With modern immunological and molecular biological laboratory techniques, some 100 primary immunodeficiencies can now be diagnosed and differentiated. The importance of diagnosing a primary immunodeficiency (PID) as early as possible cannot be overemphasized. In patients with PID, recurrent infections can lead to permanent damage and sometimes even to death. On the occasion of a first visit to the physician, the patient usually presents with nonspecific symptoms, in particular recurrent infections, a challenging situation in terms of making the correct diagnosis. Relevant warning signals and a possible family history should also prompt at least such simple laboratory tests as a blood differential and the quantitative determination of immunoglobulins, followed where necessary by more specific evaluations. Early treatment, for example, with immunoglobulins may enable many patients to lead a virtually normal life, and in some cases bone marrow transplantation or gene therapy may even result in a cure.
Gruber
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R
Medizinische Poliklinik-Innenstadt, Klinikum der LMU München. Rudolf.Gruber@med.uni-muenchen.de
Wintergerst
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U
D000328:Adult; D002648:Child; D002675:Child, Preschool; D003663:Decision Trees; D003937:Diagnosis, Differential; D006801:Humans; D007136:Immunoglobulins / Q000097:blood; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology / Q000628:therapy; D007223:Infant; D007231:Infant, Newborn; D007958:Leukocyte Count; D016131:Lymphocyte Subsets / Q000276:immunology; D009894:Opportunistic Infections / Q000175:diagnosis* / Q000276:immunology; D012008:Recurrence
D007136:Immunoglobulins