Pyrin Q148 mutation and familial Mediterranean fever
摘要
Sir, Familial Mediterranean fever (FMF) is an auto‐inflammatory disease with an autosomal recessive inheritance. Defects in the protein pyrin cause the characteristic attacks of the disease.1,,2 More than 20 mutations have been identified in the gene coding pyrin. Booth et al .3 recently presented their studies in an interesting mutation, the E148Q mutation, in different populations. They have commented that individuals homozygous for the pyrin Q148 mutation have not been confirmed to suffer from clinical FMF.3 We would like to present for the first time two patients who have clinical FMF who were homozygous for the pyrin Q148 mutation. The first patient presented with complaints of fever and severe abdominal …
引用本文（GB/T 7714）
Seza Özen. Pyrin Q148 mutation and familial Mediterranean fever[J]. QJM, 2002.
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