The estimated incidence of severe forms of T and B cell deficiencies requiring immediate attention is variable between different populations and settings, but is expected to be around 1:50,000 live births for SCID and 1:10,000 live births for severe T cell lymphopenia of other origin. This leads to a delay in the presentation of clinical symptoms, most commonly due to infections affecting the respiratory tract, until the age of 3–6 months after maternal antibodies have waned. Due to materno-fetal transfer of IgG antibodies, young infants with isolated B cell deficiency are temporarily protected against infections despite a lack of endogenous antibody production. Severe isolated disorders of B cell development typically result in absent B cells in the peripheral blood and low or absent antibody levels (hypo- or agammaglobulinaemia). Advances in cellular treatments, mainly HSCT, and more recently gene therapy, as well as the development of novel therapeutics have considerably improved the survival and quality of life of these patients. If left untreated, severe T cell disorders are usually fatal in the first year of life. Affected infants appear healthy at birth but typically develop life-threatening bacterial, viral, fungal or opportunistic infections, persistent diarrhoea and failure to thrive within the first weeks and months of life. SCID and other severe T cell diseases (here referred to as combined immunodeficiency, CID) are disorders of T cell development and can be associated with additional defects such as B and natural killer (NK) cell deficiency. Testing is performed centrally in the Swiss Newborn Screening (NBS) Laboratory at the University Children's Hospital in Zurich. Therefore, newborn screening for severe primary T and B cell deficiencies was introduced in Switzerland on the 1 January 2019. However, there is a considerable number of undiagnosed patients, many of whom die before treatment can be started. With early diagnosis and treatment of SCID patients at an experienced transplant centre prior to the onset of infection, high cure rates of 80–95% can be achieved. Of note, one of the most important factors for achieving high HSCT cure rates is a good clinical condition of the child at time of transplant, i.e., absence of active infection. The treatment of choice for SCID is allogeneic haematopoietic stem cell transplantation (HSCT) or, in selected cases, gene therapy. SCID was first described in Switzerland in the 1950s by the founders of Swiss Paediatric Immunology as “Swiss-type agammaglobulinaemia”. Severe combined immunodeficiency (SCID) is one of the most severe forms of primary immunodeficiency (PID) and is considered a paediatric emergency. Zeta-chain-associated protein kinase 70 Introduction Kappa-deleting recombination excision circles MHC Haematopoietic stem cell transplantation IgG
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