8/2/2013 1 X/Y chromosome variations & Immune System Health Ramesh Halder, PhD Chetachi Okereke, MD Rita Okorogu, MD Isela Valera, PhD Jennifer Woo, MPH Eric Yen, MD, MS Quanzhen Li, PhD Prasanth Surampudi, MD Christina Wang, MD Ronald Swerdloff, MD Immunology / Rheumatology, Department of Medicine, UCLA UT Southwestern, Dallas, TX Endocrinology, Harbor-UCLA Medical Center Mitchell Geffner, MD Division of Endocrinology, LA Children’s Hospital Ram Raj Singh, MD Professor of Medicine & Pathology Anna Haddal, MD Endocrinology, UCLA Overview • Why this presentation? What is the Rationale for our Research? • Introduction to the Immune System • What we have found in our Research - Preliminary Different mechanisms regulating immunity are triggered by the sex chromosome Libert et al (2010), Nature Review
• Immunodeficiency occurs when the immune system is not
as strong as normal, resulting in severe infections.
–Gene defects, such as severe combined immunodeficiency,
–acquired conditions such as HIV/AIDS, or through the use of immunosuppressive medication.
• Cancer of the Immune system – Lymphoma
• Autoimmunity results from a hyperactive immune system attacking normal tissues as if they were foreign bodies.
• Asthma and allergies. A normally harmless material such as grass pollen, food particles, mold or pet dander is mistaken for a severe threat and attacked.
Some autoantibodies were lower in XX ♂♂♂♂than in XY♂♂♂♂
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IgM Autoantibodies in X0 females
and XX females
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• Alterations in
– memory T cells
– Killer T cells
– Cytokine producing cells
• More production of undesirable ‘auto’antibodies,
but no overt disease [or you are not telling me the
full story]
We have found many immune changes in
relation to X/Y variation
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Implications
• The altered proliferating and naive CD8+ T cells in X/Y variations might affect protection against certain infections where rapid CD8+ T cell expansion is needed.
• However, altered memory CD8+ T cell responses might pose difficulty in chronic infections and other conditions where long-term memory T cell responses are protective.
Pitfalls with our study and
how you can help
• We need more people to enroll in the study, so we
can be confident about the results.
• Control participants: We also need samples from
XY and XX individuals who are, ideally, ‘matched’
for ethnicity and age+/- 5 years.
• Follow up study: If you gave blood sample
previously, we need your sample again.
• Might provide explanation for unexplained
symptoms that you may have.
• Might help in
– early diagnosis of immune related conditions,
– proper use of vaccination against pathogens,
– screening for autoimmune diseases, and
– use of preventive strategies.
Implications of our study
and Future Directions
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You can enroll for this study, provide
consent, & complete the Questionnaires at
https://ctq.ctrl.ucla.edu/ctq/login/
Thank You!!
We will then arrange for a blood sample to be drawn at your physician’s office or at the next meeting. You may contact us at:
