Experiment Outline

Immune System analysis of children with Kabuki Makeup Syndrome (Niikawa-Kuroki)

Researcher: Stephen J. Byrne; Microbiology Undergraduate Student, California Polytechnic University at Pomona.                  -father of Elena Byrne, 2 years old with KMS

Purpose:    KMS immunodeficency may be a result of mutant(defective) proteins in lymphocytes.  Such a mutation may be causing malformed immunoglobulins, or reducing their concentrations in blood plasma.  The mutation could possibly affect the growth and proliferation of B & T cells, or macrophages as well.  Results will give us insight into the nature of any mutant proteins, their dysfunction, possible treatments, and the location of the mutations that cause KMS.

Experiment Procedures: -  Survey -  Laboratory Testing    -  Complete Blood Count w/ Differential    -  Immunoglobulin Panel

WebMD Test Descriptions      - CBC w/ Differential      - Immunoglobulin Panel

Requirements: - KMS child between the ages of 2 and 10 years old - No blood transfusions within 6 months of testing - No serious infections for 2 weeks prior to testing      -  Colds, ear, or skin infections exempted - 40 participant spots available - California, or Southwest USA Residents preferred Testing Dates: - Series 1 - Early July 2005 - Series 2 - Early August 2005 Costs: Costs vary depending upon participant's insurance.  Talk to your primary physician before enrolling, as prescriptions are required for each test. 2 - CBC Tests w/ Differential Counts 2 - Immunoglobulin Panels Results: White blood cell total White blood cell type % Red blood cell total Hematocrit % Hemoglobin Concentration Platelet count Blood smear (appearance) Immunoglobulin A Concentration Immunoglobulin G Concentration Immunoglobulin M Concentration Experiment Conclusion: The experiment will conclude in August with the final analysis of the results and submission of the paper.  For those families in Southern California, a meeting will be organized in early September to discuss results and possible follow-up experiments.  For those families living elsewhere, all information from the meeting will be mailed.  Participants will have priority in later experiments.

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