Lymphocytic interstitial pneumonitis, elevated IgM concentration, and hepatosplenomegaly in ataxia-telangiectasia

Different Clinical and Immunological Presentation of Ataxia-Telangiectasia within the Same Family

“…Recently, it has been shown that ATM is required for effi cient immunoglobulin class switch recombination [6,10] , thus explaining the fi nding of an immunoglobulin profi le reminiscent of hyper IgM syndrome in A-T. However, no apparent association with the molecular position of the ATM mutation and the high IgM serum levels has been found [13] . It has been suggested that the different clinical expression of A-T may be due to the effect of the different mutations on the stability of the ATM protein, with null mutations causing the classical A-T form, while mutations with a milder effect on the protein product of the gene may result in milder forms of A-T [12] .…”

Lymphocytic interstitial pneumonitis in HIV infected adults

“…13 It may also be associated with ataxia-telangiectasia, 14 pulmonary alveolar proteinosis, complicated by Mycobacterium avium-intracellulare infection, 15 and various immune deficiency states including agammaglobulinaemia, 10 hypogammaglobulinaemia, 12 and common variable immunodeficiency. 16 An association with retroviral infection was first described in 1986 in relation to HIV-1.…”

ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia

“…These agents are used with great caution in A-T patients, if at all, as they appear to have the same effect on cultured A-T homozygous cells as ionising radiation [39]. Lymphocytic interstitial pneumonitis has been reported as another cause of diffuse lung disease in A-T and this responds to glucocorticosteroid treatment [40].…”