Molecular, cellular, and clinical studies of human inborn errors of immunity have
revolutionized our understanding of their pathogenesis, considerably broadened their …

This is the seventh special EBMT report on the indications for haematopoietic stem cell
transplantation for haematological diseases, solid tumours and immune disorders. Our aim …

Background The DNA-repair enzyme Artemis is essential for rearrangement of T-and B-cell
receptors. Mutations in DCLRE1C, which encodes Artemis, cause Artemis-deficient severe …

Background Allogeneic hematopoietic stem-cell transplantation for X-linked severe
combined immunodeficiency (SCID-X1) often fails to reconstitute immunity associated with T …

Primary immunodeficiencies (PID) are disorders that for the most part result from mutations
in genes involved in immune host defense and immunoregulation. These conditions are …

OBJECTIVES: Newborn screening for severe combined immunodeficiency (SCID) was
instituted in California in 2010. In the ensuing 6.5 years, 3 252 156 infants in the state had …

Newborn screening for severe combined immunodeficiency, the most profound form of
primary immune system defects, has long been recognized as a measure that would …

Wiskott-Aldrich syndrome (WAS) is an X-linked disease caused by mutations in the WAS
gene, leading to thrombocytopenia, eczema, recurrent infections, autoimmune disease, and …

Background Hematopoietic stem cell transplantation (HSCT) represents a curative treatment
for patients with severe combined immunodeficiency (SCID), a group of monogenic immune …

Severe combined immunodeficiency (SCID) results from defects in the differentiation of
hematopoietic stem cells into mature T lymphocytes, with additional lymphoid lineages …