DNA damage response is essential to human physiology. A broad spectrum of pathologies
are displayed by individuals carrying monoallelic or biallelic loss-of-function mutations in …

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 …

Severe combined immunodeficiencies (SCIDs) are a group of inborn errors of the immune
system, usually associated with severe or life-threatening infections. Due to the variability of …

The purpose of this overview is to increase the awareness of clinicians regarding germline
pathogenic variants that predispose to the development of monosomy 7 and discuss …

Severe combined immunodeficiency (SCID) is a rare condition with very high mortality. SCID
is mainly caused by the multiple mutations of genes affecting the entire immune cells …

Abstract Purpose of Review The most serious DNA damage, DNA double strand breaks
(DNA-dsb), leads to mutagenesis, carcinogenesis or apoptosis if left unrepaired. Non …

Severe ventriculomegaly is a rare congenital brain defect, usually detected in utero, of poor
neurodevelopmental prognosis. This ventricular enlargement can be the consequence of …

DNA ligase IV (LIG4) deficiency is an extremely rare autosomal recessive primary
immunodeficiency disease caused by mutations in LIG4. Patients suffer from a broad …

Abstract Background DNA Ligase IV (LIG4) syndrome is a rare disease with few reports to
date. Patients suffer from a broad spectrum of clinical features, including microcephaly …

DNA damage can be cytotoxic and mutagenic, and it is directly linked to aging, cancer, and
other diseases. To counteract the deleterious effects of DNA damage, cells have evolved …