Main treatment areas and tests
Main treatment areas:
- Severe combined immunodeficiencies (SCID)
- Combined immunodeficiencies (including DNA repair defects such as Ataxia teleangiectasia)
- Syndromal immunodeficiencies (e.g. immunoosseous dysplasia, DiGeorge syndrome (22q11))
- Antibody deficiency diseases (e.g. hypogammaglobulinemia, CVID, agammaglobulinemia or Bruton disease)
- Diseases with immune dysregulation (e.g. APDS, APECED, IPEX, STAT3, STAT1, CTLA-4, HLH syndromes like XIAP)
- Phagocyte defects (e.g. septic granulomatosis, leukocyte adhesion defects (LAD))
- Disorders of the innate immune system (e.g. IRAK4, MyD88, MSMD (lack of defense against mycobacteria)
- Autoinflammation (interferonopathies and periodic fever syndromes such as PFAPA, CAPS, TRAPS, ADA2)
- Complement defects
We carry out the following tests:
- Immunoglobulins (isotypes and IgG subclasses)
- Specific antibodies (IgG, IgM)
- Lymphocyte Subtyping
- T-cell maturation stages
- B-cell maturation stages
- Lymphocyte Proliferation
- NK cell function test (specific lysis)
- Lymphocyte stimulation and cytokine secretion
- V-beta repertoire of the T cell receptor
- Innate immunity (TLR- signal transduction)
- Granulocyte function test (hydrogen peroxide production, dihydrorhodamine staining)
- Phagocytosis testing
- Migration Assays
- Leukocyte Adhesion Molecules
- Fc receptors for IgG
- Complement analyses (CH50, AP50, single factors)
- Inflammation markers (serum amyloid (SAA), S100A8/A9)
- IL-12-Interferon gamma axis test
- Molecular genetics via whole-exome sequencing