Ras homology (RHO) GTPases are signalling proteins that have crucial roles in triggering
multiple immune functions. Through their interactions with a broad range of effectors and�…

X-linked severe immunodeficiency disease (SCID-X1) is an inherited, rare, and life-threating
disease. The genetic origin is a defect in the interleukin 2 receptor γ chain (IL2RG) gene and�…

Purpose While neonatal bloodspot screening (NBS) for severe combined immunodeficiency
(SCID) has been introduced more than a decade ago, implementation in NBS programs�…

Newborn screening (NBS) programs continue to expand due to innovations in both test
methods and treatment options. Since the introduction of the T-cell receptor excision circle�…

Background The Human Cell Differentiation Molecules (HCDM) organizes Human
Leukocyte Differentiation Antigen (HLDA) workshops to test and name clusters of antibodies�…

Actin cytoskeleton remodelling drives cell motility, cell to cell contacts, as well as membrane
and organelle dynamics. Those cellular activities operate at a particularly high pace in�…

Introduction Multiparameter flow cytometry (FCM) immunophenotyping is an important tool in
the diagnostic screening and classification of primary immunodeficiencies (PIDs). The�…

Background/aim: Established reference values are critical for the interpretation of
immunologic assessments. In particular, the proportion and absolute counts of T-and B-cell�…

Inborn errors of immunity (IEI) are a group of disorders caused by genetically determined
defects in the immune system, leading to infections, autoimmunity, autoinflammation and an�…

Methods: 148 children aged≥ 16 yr were enrolled in this study. The study population
included 61 per cent males and 39 per cent females and was divided into the following�…