Primary immunodeficiency

Abstract

Primary immunodeficiency disorder (PID) refers to a heterogeneous group of over 130 disorders that result from defects in immune system development and/or function. PIDs are broadly classified as disorders of adaptive immunity (i.e., T-cell, B-cell or combined immunodeficiencies) or of innate immunity (e.g., phagocyte and complement disorders). Although the clinical manifestations of PIDs are highly variable, most disorders involve at least an increased susceptibility to infection. Early diagnosis and treatment are imperative for preventing significant disease-associated morbidity and, therefore, consultation with a clinical immunologist is essential. PIDs should be suspected in patients with: recurrent sinus or ear infections or pneumonias within a 1 year period; failure to thrive; poor response to prolonged use of antibiotics; persistent thrush or skin abscesses; or a family history of PID. Patients with multiple autoimmune diseases should also be evaluated. Diagnostic testing often involves lymphocyte proliferation assays, flow cytometry, measurement of serum immunoglobulin (Ig) levels, assessment of serum specific antibody titers in response to vaccine antigens, neutrophil function assays, stimulation assays for cytokine responses, and complement studies. The treatment of PIDs is complex and generally requires both supportive and definitive strategies. Ig replacement therapy is the mainstay of therapy for B-cell disorders, and is also an important supportive treatment for many patients with combined immunodeficiency disorders. The heterogeneous group of disorders involving the T-cell arm of the adaptive system, such as severe combined immunodeficiency (SCID), require immune reconstitution as soon as possible. The treatment of innate immunodeficiency disorders varies depending on the type of defect, but may involve antifungal and antibiotic prophylaxis, cytokine replacement, vaccinations and bone marrow transplantation. This article provides a detailed overview of the major categories of PIDs and strategies for the appropriate diagnosis and management of these rare disorders.

Subcutaneous Immunoglobulin Replacement Therapy Experience with Intravenous Preparation

“…After Bruton used SCIG therapy (1), the intramuscular route was preferred and finally in the 1980's the intravenous route became the choice of treatment (2,3). Recently, immunoglobulin treatment via the subcutaneous route have became popular and preferable method.…”

“…In 1952, Bruton described the first PID, Bruton's agammaglobulinemia, in a boy with recurrent sinopulmonary infection and pneumonia (1). More than half of PIDs are primary antibody deficiencies and the best known are common variable deficiency (CVID), Bruton's agammaglobulinemia, selective immunoglobulin deficiencies and less frequently hyperimmunoglobulinemia M (HIM) syndrome (2). Furthermore, there are combined humoral and cellular immunodeficiencies that include severe combined immune deficiency, ataxia-telangiectasia (A-T) and hyperimmunoglobulinemia E syndrome.…”

Whole exome analysis of primary immunodeficiency

“…Current procedures for PID diagnosis are very complex and involve using specialized immunologic tests, including lymphocyte proliferation and cytotoxic assay, evaluation of serum immunoglobulin level, flow cytometry, neutrophil function assays and complementary analysis (McCusker, Warrington, 2011). However, immunological evaluation is performed to assess a patient's immune status for primary PID diagnosis.…”

Clínica de inmunodeficiencias primarias en adultos. Experiencia en un hospital de tercer nivel

“…9,10 Con frecuencia existe un retraso significativo entre el inicio de los síntomas y el diagnóstico de IDCV, en promedio de 4 a 5 años. 2,11 Se ha reportado que entre 20 y 25% de los pacientes con IDCV tiene complicaciones gastrointestinales como gastritis crónica (con o sin anemia perniciosa), hiperplasia nodular linfoide, atrofia de las vellosidades, enfermedad inflamatoria intestinal y enteropatía. En un estudio de Rodríguez-Negrete y colaboradores, 12-14 realizado en pacientes mexicanos, se encontró 94% de complicaciones gastrointestinales en adultos con IDCV, especialmente trastorno funcional digestivo.…”