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Table 5 ATM and the Immune System

From: Ataxia telangiectasia: a review

ATM is involved in:
o V(D)J recombination in the production of immunoglobulins and α/β chain recombination in the production of T cell receptors [111, 112]
o Class switch recombination in B cells [179, 180]
o T cell proliferation and survival following T cell receptor stimulation [181, 182]
ATM deficiency results in:
o Low immunoglobulin levels (particularly IgA, IgG subclasses and IgE)
o Lymphopenia (particularly affecting T cell numbers)
o Decreased immune repertoire diversity
o Genomic instability and translocations which can result in lymphoid malignancies