Diseases

More than 150 distinct types of primary immunodeficiencies have been identified. Among these disorders are:

  • Ataxia telangiectasia
  • Cartilage hair hypoplasia
  • CD40 ligand
  • Chediak-Higashi syndrome
  • Chronic granulomatous disease
  • Chronic mucocutaneous candidiasis
  • Common variable immunodeficiency
  • Complement deficiencies
  • Congenital agranulocytousis (Kostmann syndrome)
  • Cyclic neutropenia
  • DiGeorge syndrome
  • Familial hemophagocytic lymphohistiocytosis (FHL)
  • Familial Mediterranean fever (FMF)
  • Griscelli syndrome (GS)
  • Hereditary angioedema (HAE)
  • Hyper IgE syndrome (HIES)
  • Hyper IgD syndrome (HIDS)
  • Hyper IgM syndromes
  • IgG subclass deficiency
  • Immunodeficiency with thymoma (Good syndrome)
  • Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX)
  • Interferon-g, interleukin 12, and receptor deficiencies
  • Leukocyte adhesion defect (LAD)
  • Mannan-binding lectin deficiency (MBL)
  • MHC class II deficiency
  • Partial combined immunodeficiencies
  • Periodic fever aphthous stomatitis, pharyngitis and adenopathy (PFAPA)
  • Properdin deficiency
  • Severe combined immunodeficiency
  • Selective IgA deficiency
  • Transient hypoagammaglobulinemia of infancy
  • Tumor necrosis factor receptor associated periodic syndrome (TRAPS)
  • Wiskott-Aldrich syndrome
  • X-linked agammaglobulinemia
  • X-linked hyper IgM syndrome
  • X-linked lymphoproliferative
  • X-linked severe combined immunodeficiency
  • X-linked lymphoproliferative syndrome (Duncan syndrome)