B cells develop from hematopoietic stem cells in the bone marrow. Once generated, they
serve multiple roles in immune regulation and host defense. However, their most important …

Chronic mucocutaneous candidiasis (CMC) was recognized as a primary immunodeficiency
in the early 1970s. However, for almost 40 years, its genetic etiology remained unknown …

Natural killer (NK) cells are innate cytotoxic lymphocytes with adaptive immune features,
including antigen specificity, clonal expansion and memory. As such, NK cells share many …

Deep learning models such as convolutional neural networks (CNNs) excel in genomic
tasks but lack interpretability. We introduce ExplaiNN, which combines the expressiveness …

Transcription factors (TFs) are critical components involved in regulating immune system
development, maintenance, and function. Monogenic defects in certain TFs can therefore …

Signal transducer and activator of transcription (STAT)-6 is a transcription factor central to
pro-allergic immune responses, although the function of human STAT6 at the whole …

IKKα is a multifunctional serine/threonine kinase that controls various biological processes,
either dependent on or independent of its kinase activity. However, the importance of the …

Interferon regulatory factors (IRFs) comprise a family of nine transcription factors in
mammals. IRFs exert broad effects on almost all aspects of immunity but are best known for …

The transcription factor interferon regulatory factor 4 (IRF4) belongs to the IRF family and
has several important functions for the adaptive immune response. Mutations affecting IRF …

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