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Created with Fabric.js 1.4.5 ADENOSINE DEAMINASE DEFICIENCY ADENOSINE DEAMINASE DEFICIENCY SCID CAUSED BY ADA DEFICIENCY RECESSIVEINHERITANCE. BOTH PARENTS MUST BE CARRIERS 1/4 CHANCE WITH BOTH PARENTS BEING CARRIERS OF THE MUTATED GENE SCID CAUSED BY OTHER PROBLEMS POSSIBLETREATMENTS IT IS AN INHERITED DISORDER THAT DIRECTLY AFFECTS THE IMMUNE SYSTEM AND CAUSES SEVER COMBINED IMMUNODEFICIENCY. THIS CAUSE ALMOST A COMPLETE LACK OF ALL IMMUNE PROTECTION.ADA DEFICIENCY CAUSES 10-15% OF ALL SCID CASES. DIAGNOSIS NEW TERMS WHAT IS ADA (ADENOSINE DEAMINASE) DEFICIENCY? HOW IS IT CAUSED? ADA DEFICIENCY IS CAUSED BY MUTATIONS OF THE ADA GENE ON CHROMOSOME 20. THE ADA GENE GIVES INSTRUCTIONS TO THE ADENOSINE DEAMINASE (ENZYME). WITHOUT THE GENE, ADENOSINE DEAMINASE CANNOT WORK. ADENOSINE DEAMINASE? AD IS AN ENZYME THAT ACTS ON AND ELIMINATES A MOLECULE CALLED DEOXYADENOSINE. THIS IS BECAUSE DEOXYADENOSINE IS TOXIC TO LYMPHOCYTES(WHITE BLOOD CELLS). AD CONVERTS DEOXYADENOSINE INTO DEOXYINOSINE WHICH HAS NO EFFECT ON LYMPHOCYTES WHY IS THIS BAD? IF AD CANNOT WORK BECAUSE IT RECEIVES NO INSTRUCTIONS, IT CANNOT CONVERT DEOXYADENOSINE INTO DEOXYINOSINE. THIS WILL DIRECTLY IMPEDE ONES IMMUNE SYSTEM AS DEOXYADENOSINE IS TOXIC TO LYMPHOCYTES.THIS WILL MAKE THEM UNABLE TO PROTECT THEMSELVES FROM ALMOST ALL ILLNESES. THE PROGNOSIS IS SLOW GROWTH, DEVELOPMENT DELAY, AND CHRONIC LUNG DAMAGE SYMPTOMS SKIN RASHES PNEUMONIA CHRONIC DIAHRREA MOST VICTIMS ARE DIAGNOSED WITHIN THE FIRST 6 MONTHS OF LIFE. IF THEY RECEIVE NO TREATMENT, THEY WILL DIE BEFORE THE AGE OF 2. SOMETIMES DELAYED ONSET IS SEEN.THIS DOESN'T AFFECT ANY PARTICULAR POPULATION.IT OCCURS IN 0.0005%-0.0001% OF BABIES. THERE ARE 2 METHODS OFDIAGNOSIS. DOCTORS CAN CONFIRMADA DEFICIENCY BEFORE BIRTH IN THEMOTHER BY CONDUCTING CHORIONIC VILLUS SAMPLING. WHICH IS SAMPLING SOME TISSUE FROM THE AMNIOTIC SAC AD ENZYME LEVEL MEASUREMENTS FROM A FETAL BLOOD SAMPLE. THIS FETAL BLOOD SAMPLE IS FROM THE UMBILICAL CORD. BONEMARROWTRANSPLANT LYMPHOCYTE BLOOD TRANSFUSION ADA INJECTION GENE THERAPY THERE IS GENE THERAPYAVAILABLE FOR ADA DEFICIENCY. IN THIS, DOCTORSINSERT NORMAL DNA WITHNORMAL A NORMAL ADA GENE. HISTORY ADA WAS THE CAUSE OF THE FIRST EVER GENE THERAPY CASE. THIS WAS DONE ON SEPTEMBER, 14TH, 1990. A FOUR YEAR OLD GIRL WASTHE RECIPIENT OF THE TREATMENT BY DR. W. FRENCH ANDERSON. SHE WASTREATED MULTIPLE TIMES OVER A 2YEAR PERIOD AND NOW LIVES A HEALTHY LIFE. 11 1. PROGNOSIS: THE LIKELY PROCESS OF RECOVERY OR DAMAGE OF A DISEASE OR AILMENT2. DIAGNOSIS: THE IDENTIFICATION OF A DISEASE FROM ITS SYMPTOMS3. RECESSIVE: A GENETIC TRAIT THAT IS ONLY ACTIVE IF TWO RECESSIVE ALLELES ARE PRESENT 12 5 1 9 10 6 8
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