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Mitochondrial disease and immunodeficiency:  What do we know so far?

Mitochondrial disease and immunodeficiency:  What do we know so far?. Susan Pacheco M.D. Associate Professor, Pediatrics Co-Director, UT Mitochondrial Center Allergy and Immunology University of Texas, Houston. OBJECTIVES. Explain why consider immunological problems

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Mitochondrial disease and immunodeficiency:  What do we know so far?

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  1. Mitochondrial disease and immunodeficiency:  What do we know so far? Susan Pacheco M.D. Associate Professor, Pediatrics Co-Director, UT Mitochondrial Center Allergy and Immunology University of Texas, Houston

  2. OBJECTIVES Explain why consider immunological problems in children with mitochondrial disease Provide basic guidelines for the evaluation and treatment of infections and potential Immune problems in children with Mitochondrial disease

  3. IMMUNE SYSTEM AVAILABLE PUBLISHED REPORTS WHAT IS REPORTED BY CARETAKERS WHAT WE THINK IS HAPPENING WHAT WE ARE DOING

  4. Background

  5. Mitochondrial Disorder Lack of ATP production Organs with high energetic demands

  6. What happens with the immune system? ?

  7. Description of mitochondria and immune function is absent from all major reviews and textbooks on mitochondrial medicine published so far. Debray 2008, DiDonato 2009, DiMauro 2003, Morova 2006, Shapira 2003, Sheffler 2007 , Wallace 2010, Zeviani 2007, DiMauro 2006

  8. Add text title Severe, often fatal infections in individuals with defined mitochondrial syndromes like MELAS, Pearson’s-Kearns-Sayre overlap syndrome, and infections with unusual pathogens like Aspergillus McKee 2000 Add text title

  9. Add text title Severe, often fatal infections in individuals with defined mitochondrial syndromes like MELAS, Pearson’s-Kearns-Sayre overlap syndrome, and infections with unusual pathogens like Aspergillus MITOCHONDRIAL DYSFUNCTION Add text title

  10. INFECTION INNATE IMMUNE SYSTEM T B T-cell activation B-cell stimulation

  11. T 107 cells/ 5-7 days 1 cell B 103’s molecules/second T-cell activation B-cell stimulation

  12. Threshold Dysequilibrium Increased energetic demands Tissue dysfunction based on energetic needs GI Dysmotility Developmental delay FTT Myopathy Heart disease Seizure disorder Neuromuscular weakness Pancreatic inssuficiency Visual defects Hearing defects Neurogenic bladder

  13. PATIENT DATA

  14. “INFECTIONS THAT TAKE LONGER TO RESOLVE”

  15. Out of a total of 35 individuals selected for this study (43% females, 57% males), 94% suffered from recurrent or unusually severe infections Pacheco 2011

  16. Preliminary data suggests the presence of immune dysfunction in children with MD Twenty-nine children (ages 1 - 16) Repeated infections, hypogammaglobulinemia, and B-cell dysfunction was found Pacheco 2009

  17. Increased catheter associated bloodstream infections and sepsis in patients with: Mitochondrial diseaseGI dysmotility Parenteral nutrition Pacheco 2011

  18. DEFINITION OF IMMUNODEFICIENCY “The strongest identifiers of PID are: family history of immunodeficiency, use of intravenous antibiotics for sepsis in children with neutrophil PID and failure to thrive in children with B-lymphocyte PID.” Subbarayan 2010 “Published warning signs are neither specific nor sensitive for PID”. MacGinnitie 2011

  19. What are we doing? Screening of patients for potential immune defects Prompt assessment and treatment of any metabolic decompensation and/or infection PICU IgG values Aggressive treatment of infections Promotion of routine and prophylactic vaccines Children on parenteral nutrition and GI dysfunction with prior septic episode - Immune prophylaxis Pacheco 2011

  20. UNIVERSITY OF TEXAS MITOCHONDRIAL CENTER OF EXCELLENCE 713 500 7164 UT.MITO@UTH.TMC.EDU WWW.UTMITO.ORG

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