Effect of the cytokine in the immune system, Slides of Immunology

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P R IM A R Y IM M U N O D EFIC IEN C Y A N D

S EC O N D A R Y IM M U N O D EFIC IEN C Y

Paper II, Unit IV

By Pooja Sevak JRF Dept. of Biotech University on Mumbai

Immunodeficie

ncy

1. What is immunodeficiency?

2. What are the types immunodeficiency?

3. What is importance of studying

immunodeficiency?

Primary

Immunodeficiency• Genetic or developmental defects of the immune

system impair host defence and lead to an increased susceptibility to recurrent, severe or unusual infections

• (^) Primary immune deficiency diseases (PIDD), an umbrella term referring to more than 130 genetic defects involving the immune system, affect as many as 10 million people worldwide.
• (^) Affect either adaptive or innate immune function

Reticular dysgenesi s

Cognital agranulocyt osis

SCID

Leukcyte adhesion deficiency

Defect in Hematopoiesis

Lymphoid Immunodeficiency

List of diseases due to Lymphoid^ •^ Involve either B or T cell or both Immunodeficiency

1. Severe combined immunodeficiency (SCID)
2. Wiskott-Aldrich syndrome (WAS)
3. Interferon gamma receptor defect
4. X- linked agammaglobulinemia
5. X-linked hyper-IgM syndrome
6. Common variable Immunodeficiency (CVI)
7. Hyper-IgE syndrome (Job syndrome)
8. Selective deficiency of immunoglobulin classes
9. Ataxia telagiectasia
10. Immune disorders involving the thymus

1. Severe combined immunodeficiency

(SCID)

• (^) It involve defect T cells alone or in combination with B or NK cells
• (^) Defect in TCR rearrangement
• (^) Patients with SCID are susceptible to a variety of bacterial, viral, mycotic and protozoan infections
• (^) The x -linked SCID is due to a defect in gamma-chain of IL-2 also shared by IL-4, -7, -11 and 15, all involved in lymphocyte proliferation and/or differentiation
• (^) Deficiency in kinase JAK 3
• (^) Defect in Adenosine deaminase (ADA) or purine nucleoside phosphorylase (PNP)
• (^) Defect in Recombinase activating gene (RAG-1 and

Causes of SCID (The Journal of Clinical Investigation )

• Associated with normal T cell numbers with reduced functions , which get progressively worse.
• IgM concentrations are reduced but IgG levels are normal
• Both IgA and IgE levels are elevated.
• Boys with this syndrome develop severe eczema.
• They respond poorly to polysaccharide antigens and are prone to pyogenic infection
• Involve thrombocytopenia
• Defect in Sailophorin, cytoskeleton glycoprotein that help assembly of actin

2. Wiskott-Aldrich

syndrome:

4. X-linked a

gammaglobulinaemia/ Bruton’s

hypogammaglobulinemia

• (^) In X-LA early maturation of B cells fails
• (^) Affect males
• (^) Few or no B cells in blood
• (^) Very small lymph nodes and tonsils
• (^) No Ig
• (^) Small amount of Ig G in early age
• (^) Recurrent pyogenic infection
• (^) B cell not capable of signal transduction
• (^) Defect in transduction molecule Bruton’s tyrosine kinase

Immunodeficencienies of the Myeloid

lineage

• (^) Affect innate immunity
• (^) Impaired phagocytic process

List of diseases due to Myeloid Immunodeficiency

**1. Reduction in neutrophil count

2. Chronic granulomatous disease
3. Chedaik Higashi syndrome
4. Leukocyte adhesion deficiency**

2. Chronic granulomatous disease

CGD)

• (^) Either in X- linked form (70%) or autosomal recessive form
• (^) Defect in the oxidative pathway by which phagocyte generate H2O2 and resulting reactive product hypochlorus acid
• (^) Extensive inflammatory reaction
• (^) Missing or defective cytochrome
• (^) Decreased ability of the monocyte as APC

3. Chedaik Higashi syndrome

• (^) Autosomal recesive disease
• Partial oculo-cutaneous albinism
• (^) Phagocyte contain gaint granules unable to kill bacteria
• (^) Protein (LYST) mutation involved in intracellular trafficking that impair targeting of the protein to lysosome

Compliment defect results

immunodeficiency or Immune complex

disease

• (^) Increase rate of bacterial infection
• (^) Deficiency in properdin due to gene defect located on X chromosome
• (^) Defect in mannose binding lectin

Imunodeficiency disorder treatment by

replacing the defective element

• (^) Replacement of a missing protein
• (^) Replacement of missing cell type or lineage
• (^) Replacement of missing or defective gene