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Immunodeficiency (Non-SCID mutations (BTK/ BLNK mutations (No B cells),…
Immunodeficiency
Non-SCID mutations
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CD40 / CD40L/ ICOS/ AID mutations #
No class-switched, high affinity antibodies
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CD40L mutation
Affects T cell activation and innate immunity activation
- appears as a combined immunodeficiency clinically
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Immunoglobulin diversity
- Nucleotide addition by TdT
- Adds nucleotides to DNA at heavy chain locus
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- Combination of gene segments within heavy and light chain loci
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- Combination of heavy and light chains and by variation in joining process
- Somatic hypermutation in germinal centres
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B cells
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Class switch recombination #
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Treatments
HSCT
Option for patients with defects in both cellular and humoral immunity # #