Approach to Primary Immunodeficiencies for the Non-Immunologist Physicians

Abstract

Introduction: Primary immunodeficiencies are a spectrum of diseases that encompasses alteration of the innate and adaptive immune response. Isolated lymphocytopenia may be a manifestation of primary immunodeficiency, which is rarely considered as a diagnostic option by non-immunological physicians. Objectives: To conduct a brief review of the primary immunodeficiencies that are most frequently associated with lymphocytopenia in order to provide a resource that will help non-immunological clinicians to recognize and appropriately refer to these cases. Materials and Methods: Review of the literature with scientific articles indexed in English and Spanish. We consulted Pubmed database with the keywords: primary immunodeficiencies and severe combined immunodeficiencies. The limit of time was 5 years and only review papers. Results: The search in the database results in 68 papers and we analyzed 35 articles because the objective of the review was Severe Combined Immunodeficiencies. Discussion: Persistent lymphopenia (usually <2500 xmm 3) detected in blood cell cytometry that accompanies severe, recurrent infections, autoimmune manifestations, atopy and cancer may suggest severe combined immunodeficiency. Causes of secondary immunodeficiency such as HIV should be ruled out. Conclusions: Persistent lymphopenia can be associated with severe combined immunodeficiency. The study should be extended in these cases by a specialist or refer the patient to a referral center for a complete evaluation.