B and T Cell Immune Deficiency Disorders Flashcards
What is the defect in SCID?
IL-2 receptor
Adenosine Deaminase Deficiency
How would a patient with SCID present?
Recurrent viral, bacterial, fungal, and protozoal infections
FTT (failure to thrive)
Chronic diarrhea
Thrush
What lab findings would you see in SCID?
Decreased T cell recombinant excision circles (TRECs)
Absence of thymic shadow, germinal centers, and B cells
What is the treatment for SCID?
BMT (no allograft rejection)
What is the defect in Ataxia-Telangiectasia?
Defect in the ATM gene that codes for DNA repair enzymes
How would a patient with Ataxia-Telangiectasia present?
Triad:
Cerebellar defects (ataxia)
Spider Angiomas (telangiectasia)
IgA Deficiency
What lab findings would you see in Ataxia-Telangiectasia?
Increased AFP
What is the defect in Hyper-IgM syndrome?
Defective CD40L on Helper T cells causes an inability to class switch
How would a patient with Hyper-IgM syndrome present?
Severe pyogenic infections early in life
What lab findings would you see in Hyper-IgM syndrome?
Increased IgM
Decreased IgA, G, E
What is the defect in Wiskott-Aldrich syndrome?
WASP gene on X Chromosome causes T Cell inability reorganize actin cytoskeleton
How would a patient with Wiskott-Aldrich syndrome present?
TIE Triad:
Thrombocytopenic purpura
Infections
Eczema
What lab findings would you see in Wiskott-Aldrich syndrome?
Increased IgE and IgA
Decreased IgM
Thrombocytopenia
