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X-Linked Agammaglobulonimia
4
X-Linked Agammaglobulinemia
By: Jason, Xander, Collin and Caleb
Disease Management Plan
Case
Study
About Our Team
About Our Team
Caleb Madarang - Hospital Administrator
Attends all role specific meetings
Collin Bauer - Hospital Physician
Diagnosed patient and orders Laboratory test
Xander Laurie - Genetic Councelor
Assesses patient's disease
Jason Ma - Public Relations Director
Creator of the team's Artifact
Genetic Case Study
Jack DeWald was a normal, full-term baby at birth, but at the age of 18 months, he suffered for re-emerging infections, such as sinusitis, otitis media, and pneumonia. Now at the age of four, blood test were order and it is known that Jack has a low number of B-lymphocytes, yet a normal amount of T-lymphocytes.
Narrowing It Down
Narrowing Down His Disease
The first test we ran was a blood test that showed his immunoglobulin(IG) levels were low and that he had low white blood cell counts showing he had immunodefeincacy
Next we ran a tissue biopsy that showed signs of neutropenia which again showed low white blood cells. Then we used his age and his symtoms to determine that he had XLA. A type of immune deficiency. XLA is also very simalar to hypogammaglobulinemia
Symptoms
Some symptoms of
XLA consist of:
Pneumonia, skin rashes, otitis media, sinusitis, arthritis, cellulitis, meningitis, fatigue, pink eye, diarrhea, and immunodeficiency. XLA is a inherited disease which is passed down.
Symptoms
How to diagnose
How to
diagnose
Extremely low Immunoglobulin levels is one sign of XLA. If all previous symptoms shown are present, and the patient has a family history with XLA, it is most likely X-Linked XLA
Chromosome Anomoly
Chromosomal Anomoly
XLA is caused by the BTK(Bruton Tyrosine Kinase) which is found on the Chromosome 23. This means that it mainly affects men. X-Linked Agammaglobulinemia is also an X-linked recessive genetic trait.
Disease Management Plan
Unfortunatly there is no cure for XLA, but Imunoglobulin replacement therapy is the main way doctors try to treat XLA. It's function is to boost the imune system with immunoglobulins. It is a lifetime treatment and you do it once a month. The procedure takes around two hours.
Rarity Of Bruton XLA
Rarity of XLA
XLA is an almost an exclusively male disease that affects about 1 in 190-200,000 babies. Women almost never get it but they can be carriers of the disease.
Life Moving Foward
Daily Life Moving Foward
People with XLA can live relatively normal lives and are encouraged to participate in regular activities for their ages. However, constant infections related to XLA will require careful attention and aggressive treatment. They can cause organ damage and be life-threatening. everytime he gets sick it is recommended to take him to a doctor .
XLA is an inherited
immunodeficiency disorder. XLA is
commonly found on males/people who
have an X and Y chromosomes, but in
rare cases can be found on females/people who have X chromosomes(a male with XLA
and a female carrier would have to be
the parents). XLA is recessive
on the X chromosome
Genetic Counseling
Plan
Pedigree Chart
Jack's family Pedigree chart
Punnet Square
Probability of XLA
These are Punnett square on the probability of Jack's possible children having XLA
Infected Woman Carrier Normal Woman
b