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Article

First Brazilian Case Report of Unrelated Patients with Identical ISG15 Mutation.

Journal of clinical immunology - 4 Oct 2024

Napoleao Sarah Maria da Silva, Salgado Ranieri Coelho, Ferreira Janaira Fernandes Severo, de Barros Dorna Mayra, de Moura Thais Costa Lima, França Tábata Takahashi, Barreiros Lucila Akune, Gomes Lillian Nunes, Condino-Neto Antonio

Abstract excerpt

BACKGROUND: ISG15 deficiency is a mixed syndrome of Mendelian susceptibility to mycobacterial infections (MSMD), a rare inherited condition characterized primarily by recurrent infections from low-virulence mycobacteria and monogenic type I interferonopathy. OBJECTIVE: To characterize the laboratory and molecular features of two patients from different families affected by the same ISG15 variant. METHODS: We...

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Identifiers

PMID: 39365299
DOI: 10.1007/s10875-024-01811-9

Genes

ISG15

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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