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1. Wiskott-Aldrich syndrome & Ataxia telangiectasia By - Shagun Rathi (MBBS,2nd year)

2. Immunodeficiency disorders Results from a failure or absence of elements of immune system,including lymphocytes,phagocytes,and the complement system. Could be primary or secondary

3. Wiskott Aldrich syndrome - x-linked disorder - characterised by thrombocytopenia,eczema &marked vulnerability to recurrent infections resulting in early death.

4. Manifestations

5. Cause Mutation in the gene located at Xp11.23. This gene encodes for wiskott Aldrich syndrome protein,which are believed to link membrane receptors,such as antigen receptors to cytoskeleton elements. Responsible for cytoskeleton dependent cell responses Such as : signal transduction ,cell migration

6. Pathology of disease

7. Findings: Thymus is morphologically normal,at least early during the course of disease.But there is a progressive loss of T lymphocytes in peripheral blood and T cell zone of lymph nodes. IgM level in serum are low IgG are normal. Paradoxically IgE and IgA are elevated.

8. Patient do not make antibodies to polysaccharide antigens and response to protein is poor. Patients are prone to developing B cell lymphoma.

9. Treatment The only treatment is hematopoietic stem cell transplantation(HSC)

10. Ataxia Telangiectasia

11. Autosomal recessive disorder, characterised by abnormal Gait(ataxia), vascular malformations(talengiectases), neurological deficits, increase incidence of tumours and immunodeficiency The Immuniological defects are of variable severity and may affect both B. and T cells.

12. Pathology of disease: The gene responsible for this disorder is located on chromosome number 11 and“ a protein kinase called ATM(ataxia Telangiectasia mutated ). FUNCTION OF ATM: In response to the DNA damage (double standards breaks) ATM activate pf3 by phosphorylation, which in turn can activate cell cycle checkpoint and apoptosis in cells with the damaged DNA. ATM has also been saying to contribute to stability of DNA double stand break complexes during V(D)J recombination.

13. The abnormalities in DNA repair resulting from ATM deficiency may impair the generation of antigen receptors. In addition, the defective DNA repair and lead to abnormalities in the DNA recombination events that are involved in Ig isotype switching.

14. The most prominent humoural immunity abnormalities are defective production of isotype- switched antibodies,mainly IgA and IgG2. The T cell defects which are usually less pronounced are associated with thymic hypoplasia. Patients experience, upper and lower respiratory tract infection, multiple autoimmune phenomena, and increasing frequent cancers with advancing age. Like several other immunodeficiency syndrome is patient with ataxia-telangiectasia have a markedly increased incidence of lymphoma.

15. Treatment Treatment is symptomatic and supportive. Physical and occupational therapies for maintaining flexibility. Speech therapy may be required. Gammaglobulin injections to help the week in immune system. Antibiotics for recurrent infections.

16. Thank you 😊