More than 400 single gene defects have been identified as inborn errors of immunity,
including many arising from genes encoding proteins that affect NF-κB activity. We …

Many bacteria can cause pyogenic lesions in humans. Most of these bacteria are harmless
in most individuals, but they, nevertheless, cause significant morbidity and mortality …

IKKα, encoded by CHUK, is crucial in the non-canonical NF-κB pathway and part of the IKK
complex activating the canonical pathway alongside IKKβ. The absence of IKKα causes fetal …

Cleft lip and cleft palate are common birth defects resulting from genetic and/or
environmental perturbations of facial development in utero. Facial morphogenesis …

IKKα, encoded by CHUK, is crucial in the non-canonical NF-κB pathway and part of the IKK
complex activating the canonical pathway alongside IKKβ. Absence of IKKα cause fetal …

This case report describes a 15-year-old patient with a known congenital malformation
syndrome and immune deficiency, presenting with new-onset atrial fibrillation (AF) after a …

Despite recent advances in therapy, multiple myeloma essentially remains an incurable
malignancy. Targeting tumour-specific essential genes, which constitute a druggable …

Background Ectodermal dysplasias (ED) are a group of diseases that affects the
development or function of the teeth, hair, nails and exocrine and sebaceous glands. One …

Bartsocas‐Papas syndrome (BPS) is a rare autosomal recessive disorder characterized by
popliteal pterygia, syndactyly, ankyloblepharon, filiform bands between the jaws, cleft lip and …

Goldenhar Syndrome (GS), also known as oculoauriculovertebral spectrum (OVAS), is a
rare congenital condition characterized by impaired development of structures such as ears …