Th17 cells and cytokines
Immunologists continue to focus on the role of TH17 cells in inflammatory disorders, HIV infection, and immunodysregulation disorders.
TACI in CVID
The role of transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) mutations in the pathogenesis of CVID is still being investigated. A form of CVID is mediated by impaired TACI expression affecting B-cell function.
DiGeorge syndrome and autoimmunity
The frequency of autoimmunity in patients with partial DiGeorge syndrome was estimated at 8.5%. This results in blood cytopenias and hypothyroidism.
PIDD and cancer
The first manifestation of several primary immunodeficiencies (PIDD) could be neoplasias, most often lymphomas.
Newborn screening for PIDD
New strategies for newborn screening include:
- measuring immunoglobulin κ chain–deletion recombinant excision circles for B-cell lymphopenia
- tandem mass spectrometry for adenosine deaminase deficiency
Progress in the treatment of primary immunodeficiencies (PIDD) include:
- increased success with unrelated HLA-compatible donors for hematopoietic stem cell transplantation (HSCT)
- new gene therapy approaches with improved safety features
Induced pluripotent stem cells were developed from patients with primary immunodeficiencies. The hope is they will provide a virtually unlimited resource gene correction studies.
Defects in Toll-like receptor 3 (TLR-3) and its pathway were linked to increased susceptibility to severe viral infections.
Advances in basic and clinical immunology in 2011. Javier Chinen, MD, PhD, William T. Shearer, MD, PhD. JACI, 2011.
Image source: Wikipedia.