Purpose To review the clinical and laboratory spectrum of RAG gene defects in humans, and
discuss the mechanisms underlying phenotypic heterogeneity, the basis of immune …

Recent epidemiology studies highlighted the detrimental health effects of exposure to low
dose and low dose rate ionizing radiation (IR): nuclear industry workers studies have shown …

Background Several studies have reported associations between radiation toxicity and
single nucleotide polymorphisms (SNPs) in candidate genes. Few associations have been …

DNA non-homologous end-joining (NHEJ) is the major DNA double strand break (DSB)
repair pathway in mammalian cells. Defects in NHEJ proteins confer marked radiosensitivity …

Giant condyloma acuminatum, also known as Buschke-Lowenstein tumor (BLT), is a rare
disease of the anogenital region. BLT is considered a locally aggressive tumor of benign …

Inborn errors of immunity (IEI) are a heterogenous group of disorders driven by genetic
defects that functionally impact the development and/or function of the innate and/or …

Null mutations in genes involved in V (D) J recombination cause a block in B-and T-cell
development, clinically presenting as severe combined immunodeficiency (SCID) …

Human papillomaviruses (HPVs) are responsible for cutaneous and mucosal lesions.
Persistent HPV infection remains a leading cause of uterine cancer in women, but also of …

Human papillomaviruses (HPVs) infect mucosal or cutaneous stratified epithelia. There are
5 genera and more than 200 types of HPV, each with a specific tropism and virulence. HPV …

It has long been known that the level of radiosensitivity between individuals covers a
considerable range. This range is reflected in analysis of patient cell lines with some cell …