Immunodeficiency disease

1.Lymphocytes

• Di-george syndrome

  1. 22q11 microdeletion,leads to faileure of development of 3rd and 4 th laryngeal pouch.
  2. failure of thymus to develop ,leads no deficiency in T-Cell
  3. Parathyroid gland development deficiency
  

  • SCID (Severe Acquired Immunodeficiency)
    1. Adenosine deaminase enzyme deficiency (accumulation of adenosine toxic to lymphocytes)
    2. MHC-2 Conplex deficiency(T-helper cells deficiency )
    3. Cytokine receptor deficiency

2. B-Cell deficiency diseases

X-linked Agammaglobulinemia	CVID	IgA deficiency	Hyper IgM
BTK protein need for Pre B cell to Imatture Bcell	antibodies either by T-Helper cells or by b-cells	Ig A	Problem with CD40 CD40L ligand
here Bruten tyrosine kinase is mutated	Bcell maturation defect leads to IgG, and other Ig defific	u know cause	Only IgM as class switching is failed
recure bacterial entrovirus ,giardia infection	bacteria,entrovirus,giardia infection later in life	recurrent mucosal infection	recurrent mucosal pyogenic infection

3. Wiscot Aldrich syndrome

mainly affecting platelets and others

1. Thrombocytopenia
2. Recurrent infection 3.Ezcema

4. Complement deficiency

1. C1 antiprotein deficiency - Complement system activation - periorbital edema(vasodilation and increse leakge )
2. C5-C9 recurrent Nessieria infections