Diseases of the immune system (Immunology)

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