Globally, autosomal recessive IFNAR1 deficiency is a rare inborn error of immunity
underlying susceptibility to live attenuated vaccine and wild-type viruses. We report seven …

The mature lymphocyte population of a healthy individual has the remarkable ability to
recognise an immense variety of antigens. Instead of encoding a unique gene for each …

Eczema is a classical characteristic not only in atopic dermatitis but also in various
genodermatosis. Patients suffering from primary immunodeficiency diseases such as hyper …

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 …

A global gold standard framework for primary immunodeficiency (PID) care, structured
around six principles, was published in 2014. To measure the implementation status of …

Ataxia telangiectasia (AT) is a genetic condition caused by mutations involving ATM (Ataxia
Telangiectasia Mutated). This gene is responsible for the expression of a DNA double …

Objective Inborn errors of immunity (IEI) are rare genetic conditions affecting the immune
system. The rate of IEI and their presentation, course, and treatment are all affected by a …

Inborn errors of immunity (IEIs) are a group of conditions whereby parts of the immune
system are missing or dysfunctional. Once thought to primarily be a pediatric disorder, it is …

Cellular purine nucleotides derive mainly from de novo synthesis or nucleic acid turnover
and, only marginally, from dietary intake. They are subjected to catabolism, eventually …

Introduction: DiGeorge syndrome is a heterogenous disorder with various clinical
presentations. Common features include thymic hypoplasia, T cell lymphopenia, conotruncal …