Primary Immunodeficiencies

• DAF (CD55) & CD59 are regulatory proteins of the complement system

  DAF dissociates C3 convertase and shortens its lifespan

  CD59 prevents inappropriate insertion of the MAC into host membranes
• Paroxysmal nocturnal haemoglobinuria affects RBCs, granulocytes & platelets
• The treatment for PNH is Eculizumab & the diagnosis includes the absence of CD55/CD59
• B - cell memory provides a rapid / strong response to secondary infection
• The secondary response to infection will produce a higher ratio of IgG to IgM
• Chronic granulomatous disease increases the susceptibility to catalase positive organisms
• Chediak Higashi disease is due to a mutation in CHS1 gene which encodes for the LYST protein
• LAD is autosomal recessive
• Deficiencies in the classical pathway can cause immune - complex disease
• Chediak Higashi disease causes oculocutaneous albinism
• Hereditary Angioedema

  • Autosomal Dominant
  • Defective or Absent C1IHN
  • Skin, laryngeal, or intestinal oedema
  • Reduced C4 and C2 levels, normal C3
  • Treatment Danazol