Table 5 ATM and the Immune System

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