Familial haemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive disorder
of immune dysregulation associated with uncontrolled T cell and macrophage activation and …

X-linked SCID (SCID-X1) is amenable to correction by gene therapy using conventional
gammaretroviral vectors. Here, we describe the occurrence of clonal T cell acute …

We have generated Cbfa1-deficient mice. Homozygous mutants die of respiratory failure
shortly after birth. Analysis of their skeletons revealed an absence of osteoblasts and bone …

A 15-year-old patient with cystic fibrosis with a disseminated Mycobacterium abscessus
infection was treated with a three-phage cocktail following bilateral lung transplantation …

Background X-linked severe combined immunodeficiency (SCID-X1) is caused by mutations
in the common cytokine-receptor γchain (γc), resulting in disruption of development of T …

Genomic medicine enables the identification of patients with rare or ultra-rare monogenic
forms of inflammatory bowel disease (IBD) and supports clinical decision making. Patients …

Chimeric antigen receptor (CAR)-modified T cells targeting CD19 demonstrate unparalleled
responses in relapsed/refractory acute lymphoblastic leukemia (ALL),,,–, but toxicity …

X-linked lymphoproliferative disease (XLP1) is a rare immunodeficiency characterized by
severe immune dysregulation and caused by mutations in the SH2D1A/SAP gene. Clinical …

Familial hemophagocytic lymphohistiocytosis (FHL) is a life-threatening disorder of immune
regulation caused by defects in lymphocyte cytotoxicity. Rapid differentiation of primary …

Genetic defects in the purine salvage enzyme adenosine deaminase (ADA) lead to severe
combined immunodeficiency (SCID) with profound depletion of T, B, and natural killer cell …