Primary Immunodeficiency Diseases in the Newborn

Abstract

The normal neonate’s immune system is anatomically completed but antigenically inexperienced and shows somewhat decreased role of a number of immunological pathways. Aside from anatomic characteristics (e.g., thin skin and mucosal barriers) of newborn, weakened pro-inflammatory and T-helper cell type 1 cytokine release and lessened cell-mediated immunity predispose the neonate more susceptible to all types of infections. Furthermore, many types of primary immunodeficiency diseases (PIDs) that present in neonatal period are potentially life threatening. However, most of the newborns stand this period without sickness due to complete innate immunity with other adaptive immune system mechanisms and transferred maternal immunoglobulin G. Besides unique immunity of the preterm and normal newborns; risk factors, clinical features, and laboratory evaluation of most common PIDs in newborn are told in this article. The range of PIDs is growing, and the diagnosis and management of these disorders continues to increase in complexity. The most common PID types of the newborn including antibody deficiencies, cellular/combined immunodeficiencies, phagocytic diseases, complement deficiencies, and innate immune system and other disorders are briefly mentioned here as well.

Angeborene Störungen der Immunität

“…Betroffen ist dabei insbesondere die Aktivität der natürlichen Killerzellen und der T-Zellen [7]. Klinisch präsentieren die Kinder sich mit prolongiertem Fieber, einer Hepatosplenomegalie sowie Zytopenien [13].…”

“…Beim Chronic Infantile Neurological and Articular Syndrom/Neonatal Onset Multisystem Inflammatory Disease (NOMID/CINCA) erfolgt die Vererbung autosomal dominant [13]. NOMID/CINCA ist der schwerste Phänotyp unter den Cryopyrin-assoziierten periodischen Syndromen (CAPS).…”