Abstract
Severe combined immunodeficiency (SCID) is clinically and genetically heterogeneous group of the most severe inborn errors of immunity. The disease typically presents as a failure of antimicrobial defences due to various defects of lymphocyte development and functions.
Being a life-threatening condition, SCID requires a prompt diagnosis in order to implement an appropriate management aimed towards early hematopoietic stem cell transplantation. Besides the classic forms of SCID, atypical or leaky phenotypes exist, that may manifest later in life or/and with milder symptoms.
In this report, we describe a 5-months-old infant with autosomal recessive atypical RAG2 SCID, who is the only patient diagnosed with SCID in the Czech Republic in the years 2018 and 2019.