Abstract
Hereditary disorders of the immune system fall under the broader name of primary immunodeficiency. These are rare diseases, some of which are already classical diagnostic units, such as the first-ever described immune deficiency of Bruton's agammaglobulinaemia.
However, especially in the last decade, mainly with the development of genetic methods, a whole range of diseases are emerging, forming a whole new category of unknown rare units. Recently, in this context, primary immunodeficiencies include the chapter Autoinflammatory Diseases, the essence of which consists in mutations of individual molecules involved in the complex regulation of inflammation.
The area of auto-inflammatory diseases is subject to a rapid increase in knowledge, discovery of new diseases and new etiopathogenetic mechanisms of disease development. Many of these units may be clinically apparent in neonatal and early infancy.
The following overview will be dedicated to these units. A very early onset of symptoms is characteristic of a group of diseases called cryopyrinopathy, the nature of which lies in inflammatory disorders, the basic mechanism of chain reactions inside the cell that initiate and regulate inflammation.
A disease called NOMID or CINCA (Neonatal onset of multisystem inflammatory disease) is already a classic unit in the field of auto-inflammatory states. Its name directly includes the neonatal beginning of the symptoms.
Inflammation and interleukin-1 disorders are also characteristic of other units such as DIRA (Deficiency of Interleukin-1 Receptor Antagonist). Gradually, there are other diseases associated with many components involved in inflammation, many of which may be present in the newborn.
These include mitochondrial protein disorders (SIFD), lipid disorders, intracellular processes such as ubiquitinization and proteasome synthesis. A very special chapter is then formed by vasculitis with symptoms in neonatal age, where, in addition to neonatal SLE, monogenic vasculitis can occur, a completely new, unexpected phenomenon.
Among the first units described in this chapter are SAVI (STING associated vasculopathy in infancy) and DADA2 (adenosine deaminase 2 deficiency). The unusual manifestations of these diseases can also be manifestations of stroke associated with vasculitis and thrombosis, with a clinical presentation in neonatal and infancy.
The review article below addresses these unusual clinical units and points out their possible occurrence in the neonatal population. Information on these units is very important because many of them can be treated with strong anti-inflammatory therapies, such as interleukin 1 blockade.