Immuno Diseases Flashcards
Severe Combined Immunodeficiency (XSCID) what is the defect?
CD132 mutation
XSCID —> what cells are affected?
B and T cells
So if B and T cells are affected in XSCID what types of infections are these patients going to present with?
Bacterial, viral and fungal
What are some treatments for XSCID?
Gene Therapy
Bone Marrow Transplant
IVIG
What receptors have lack of signaling in XSCID?
IL-2, IL-4, IL-7,IL-9,IL-15, and IL-21
Severe Combined Immunodeficiency (ADA) What is the defect?
Adenosine Deaminase Deficiency (ADA)
XSCID –> what cells are affected?
B and T cells
So if B and T cells are affected in ADA what types of infections are these patients going to present with?
Bacterial, Fungal, and Viral
what are some treatment for ADA?
Peg-ADA
Gene Therapy
Bone Marrow Transplant
IVIG
What metabolite levels are increased in ADA?
Deoxy-ATP and deoxy-adenosine levels
Severe Combine Immunodeficiency (JAK3) what is the defect?
JAK3
JAK3 presents clinically the same as what other disorder?
CD132
Does JAK3 have the same deficiency of signaling to the same receptors as CD132?
YES
what are some treatments for JAK3?
Bone Marrow Transplant
IVIG
what is the defect in reticular dysgenesis?
absence of stem cells
what are the manifestations of reticular dysgenesis?
fatal septicemia shortly after birth
what is the defect in DiGeorge Syndrome?
chromosome 22
what are the manifestations of DiGeorge Syndrome?
failure to thrive; frequent infections (fungal, bacterial, and viral) ; fatigues easily; parathyroid glands, heart and thymus may be affected. Physical abnormalities vary; allergies and asthma are common
what is the defect in common variable hypogammaglobulinemia?
mainly unknown and when know varies
what are the manifestations in common variable hypogammaglobulinemia?
low levels of serum Ig; increased susceptibility to infections. Male and female
