Chronic immune thrombocytopenia, Evans Syndrome, aplastic anemia and many more descriptive diagnoses of pediatric hematology belong to a group of disorders of immune dysregulation that are based on ill-defined poly- and epigenetic diatheses towards autoimmunity or on monogenetic primary immunodeficiencies, a growing number of which is being identified with modern technologies. Moreover, patients with congenital bone marrow failure syndromes may present without previous syndromic features later during childhood or adolescence, contributing to the wide spectrum of differential diagnoses of cytopenias of childhood. In addition to the diagnostic complexity and prognostic uncertainty, the therapeutic approach to patients with these conditions remains undetermined in many situations. While for severe cases, allogeneic hematopoietic stem cell transplantation may be the option of choice, other conditions might require temporary immunosuppression or even no treatment at all. The definition of a clearcut pathomechanism potentially offers the identification of a targeted therapy. Hence, improved clinical and laboratory diagnostic procedures derived from physicians’ experiences and basic research are needed and will ultimately lead to better defined diagnoses and optimized treatment.
The presented research topic aims to collect a range of contributions focusing on these challenges, reaching from scientific progress in the immune biological and hematological context of cytopenias, development of technologies, tests, and biomarkers, to clinical challenges such as national and international registries of immune and other acquired cytopenias and novel treatment approaches.
Chronic immune thrombocytopenia, Evans Syndrome, aplastic anemia and many more descriptive diagnoses of pediatric hematology belong to a group of disorders of immune dysregulation that are based on ill-defined poly- and epigenetic diatheses towards autoimmunity or on monogenetic primary immunodeficiencies, a growing number of which is being identified with modern technologies. Moreover, patients with congenital bone marrow failure syndromes may present without previous syndromic features later during childhood or adolescence, contributing to the wide spectrum of differential diagnoses of cytopenias of childhood. In addition to the diagnostic complexity and prognostic uncertainty, the therapeutic approach to patients with these conditions remains undetermined in many situations. While for severe cases, allogeneic hematopoietic stem cell transplantation may be the option of choice, other conditions might require temporary immunosuppression or even no treatment at all. The definition of a clearcut pathomechanism potentially offers the identification of a targeted therapy. Hence, improved clinical and laboratory diagnostic procedures derived from physicians’ experiences and basic research are needed and will ultimately lead to better defined diagnoses and optimized treatment.
The presented research topic aims to collect a range of contributions focusing on these challenges, reaching from scientific progress in the immune biological and hematological context of cytopenias, development of technologies, tests, and biomarkers, to clinical challenges such as national and international registries of immune and other acquired cytopenias and novel treatment approaches.