T cells possess an array of functional capabilities important for host defense against
pathogens and tumors. T cell effector functions require the T cell antigen receptor (TCR) …

Background: Zeta-Chain Associated Protein Kinase 70 kDa (ZAP-70) deficiency is a rare
combined immunodeficiency (CID) caused by recessive homozygous/compound …

Background & aims Monogenic forms of inflammatory bowel disease (IBD) illustrate the
essential roles of individual genes in pathways and networks safeguarding immune …

Background Paratuberculosis is a contagious, chronic and enteric disease in ruminants,
which is caused by Mycobacterium avium subspecies paratuberculosis (MAP) infection …

The cell-mediated immune response constitutes a robust host defense mechanism to
eliminate pathogens and oncogenic cells. T cells play a central role in such a defense …

Background: Polyautoimmunity is defined as the presence of more than one autoimmune
disorder in a single patient. Lipopolysaccharide (LPS)-responsive beige-like anchor (LRBA) …

Hypomorphic IKBKG mutations in males are typically associated with anhidrotic ectodermal
dysplasia with immunodeficiency (EDA-ID). Some mutations cause immunodeficiency …

Osteosclerotic metaphyseal dysplasia (OSMD) is a very rare autosomal‐recessive disorder
and a distinctive type of osteopetrosis, characterized mainly by skeletal fractures and …

Genetic contributing factors to non-syndromic hearing loss (NSHL) are remarkably diverse
spanning over autosomal to X-linked to mitochondrial inheritance patterns. Facing a quite …

In humans, the complete lack of tyrosine kinase ZAP70 function results in combined
immunodeficiency (CID), with abnormal thymic development and defective T cell receptor …