Mutations in the recombination activating genes (RAG) cause various forms of immune
deficiency. Hematopoietic stem cell transplantation (HSCT) is the only cure for patients with …

The recombination-activating genes (RAG) 1 and 2 are indispensable for diversifying the
primary B cell receptor repertoire and pruning self-reactive clones via receptor editing in the …

Recombination activating genes (RAGs) are tightly regulated during lymphoid differentiation,
and their mutations cause a spectrum of severe immunological disorders. Hematopoietic …

Interferon regulatory factor 4 (IRF4) is a transcription factor (TF) and key regulator of immune
cell development and function. We report a recurrent heterozygous mutation in IRF4, p …

Mutations in the recombination activating gene 1 (RAG1) and RAG2 in humans are
associated with a broad spectrum of clinical phenotypes, from severe combined …

Background Activated phosphoinositide 3 kinase (PI3K)-delta syndrome (APDS) is an
inborn error of immunity with variable clinical phenotype of immunodeficiency and immune …

Mutations in the human nuclear factor-κB2 gene (NFKB2) are associated with common
variable immunodeficiency (CVID) or combined immunodeficiency diseases (CID) …

Mutations in the recombination-activating gene 1, a pivotal component essential for V (D) J
recombination and the formation of T-and B-cell receptors, can result in autoimmune …

Objective FAS gene defects lead to autoimmune lymphoproliferative syndrome (ALPS),
which is often inherited in an autosomal dominant and rarely in an autosomal recessive …

Human Inborn Errors of Immunity (IEI) represent a diverse array of genetic disorders
affecting the immune system and result in increased susceptibility to infections …