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14 Cards in this Set

  • Front
  • Back
What is the Molecular defect causing DiGeorge Syndrome?
Failure of formation of the 3rd and 4th pharyngeal pouches resulting in failed development of the thymus and parathyroid
Sx of DiGeorge's
Cardiac abnormalities (tetrology and truncus arteriosus), Abnormal facial features, Thymic aplasia, Cleft palate, and Hypocalcemia
Low T-cell number and absent T-cell response
Underdeveloped paratx region of lymph node
Viral and Fungal infections
22q11 deletion
What type of deficiency does MHC I deficiency cause AND What is the Molecular defect causing MHC I deficiency?
T-cell specific deficiency
Failure of TAP-1 molecules to transport peptide to the ER for loading
Clinical presentation of MHC I deficiency?
CD8 T cell deficiency - recurrent viral infections
NML CD4 T cell - Nml DTH, Nml Abs
What is the Molecular defect causing Wiskott-Aldrich?
X-linked defect in cytoskeleton glycoprotein (WAS gene) - inability to mount IgM response to capsular polysccharide
Clinical Manifestations of Wishkott-Aldrich?
pyogenic Infections
thrombocytopenic Purpura
What is the Molecular defect causing Axatia Telangiectasia?
Defect in DNA repair enzymes associated w/IgA deficiency
Clinical manifestations of ataxia telangiectasia?
Spider angiomas
Decreased IgA and IgE
What are the Molecular defects causing SCIDS?
Failure to synthesize MHC II Ag
Defective IL-2 receptor
ADA deficiencyNull mutation in rag1 and rag2 genes - tototal lack of B and T cells
Defect is in early stem cell differentiation
Clinical presentation of SCIDS?
Recurrent bacterial, viral, fungal, protazoan infections.
Chronic diarrhea
Low levels of lymphocytes
Cells unresponsive to mitogens
What is the presentation of Bare lymphocyte syndrome/ MHC II deficiency cause of SCIDS?
MHC II deficiency leads to decreased failure of positive selection and thus no CD4 T cells
What is the result of IL-12 receptor deficiency?
Disseminated Mycobacterial infection
What is the molecular defect causing Job's syndrome?
Failure of IFN-gamma production by helper T cells results in PMN failure to respond to chemotactic stimuli
What is the presentation of a pt with job syndrome?
Staph Abcess
Recurrent Cold
Coarse facies
Retain primary teeth
High IgE