Article

Dual novel homozygous mutations in ISG15 and MPO lead to classic type I interferonopathy and a new phenotype of recurrent parenchymal pneumonia

2022-12-28

Abstract excerpt

<title>Abstract</title> <p>Purpose ISG15 deficiency, a rare human inborn error of immunity characterized by susceptibility to Mycobacterium tuberculosis infection, shows neuropathic and dermatological manifestations. MPO deficiency is a common inherited defect of phagocytes, but it is not classified as an independent primary immune deficiency due to lack of clinical symptoms. Dual mutation of ISG15 and MPO has n...

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Literature Corpus work: 5aa7777a-9ac4-5686-a6cd-27a5c8550c37
DOI: 10.21203/rs.3.rs-2391818/v1

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