Severe combined immunodeficiency is the most severe form of primary immunodeficiencies. Patients with SCID present with high susceptibility to fatal bacterial, viral and fungal infections in their first year of life. Early ...

Apoptosis plays a crucial role in immune homeostasis. The interaction between Fas and FasL, essential molecules in an apoptosis pathway, play an important role in the termination of the immune response, regulation of ...

During puberty in both sexes endogeneous estrogen has a biphasic effect on epiphyses where at low levels it leads to an increase in height and bone mass whereas with higher levels this leads to closure of the epiphyses. ...

Common variable immunodeficiency (CVID) is a heterogeneous primary immunodeficiency disease characterized by poor response to vaccination and recurrent infections with B cell differentiation and antibody production defects. ...

ABSTRACT Çağdaş Ayvaz, DN. Investigation of LRBA defect in patients with common variable immunodeficiency, Institute of Health Sciences, Program of Immunology, PhD. Thesis, Ankara, 2017. Primary immunodeficiencies are ...

Studies have shown that protein-energy malnutrition in adolescents with anorexia nervosa (AN) is an under-recognized cause of muscle dysfunction. However, the detrusor instability in adolescents with AN has never, to our ...

The novel rhomboid-like protein RHBDD2 is distantly related to rhomboid proteins, a group of highly specialized membrane-bound proteases that catalyze regulated intramembrane proteolysis. In retina, RHBDD2 is expressed ...

There are more than 8000 rare diseases (RDs) that affect >5 % of the world’s population. Many of the RDs have no effective treatment and lack of knowledge creates delayed diagnosis making management difficult. The emerging ...

Alstrom syndrome is a clinically complex disorder characterized by childhood retinal degeneration leading to blindness, sensorineural hearing loss, obesity, type 2 diabetes mellitus, cardiomyopathy, systemic fibrosis, and ...

The NOTCH signaling pathway plays important role in the development of multicellular organisms, as it regulates cell proliferation, survival, and differentiation. In adults, it is essential for the T- or B-lymphocyte lineage ...