Approaches for the diagnosis and treatment of VEXAS syndrome: the importance of clinical suspicion and the use of methotrexate

被引：0

作者：

De Santis, Maria ^{[1
,2
]}

Tonutti, Antonio ^{[1
,2
]}

Motta, Francesca ^{[1
,2
]}

Todisco, Gabriele ^{[1
,3
]}

Manes, Nicla ^{[3
]}

Milanesi, Chiara ^{[3
]}

Caselli, Rossella ^{[3
]}

Albertazzi, Serena ^{[3
]}

Bonometti, Arturo ^{[1
,4
]}

Selmi, Carlo ^{[1
,2
]}

Della Porta, Matteo Giovanni ^{[1
,3
]}

机构：

[1] Humanitas Univ, Dept Biomed Sci, Pieve Emanuele, Italy

[2] IRCCS Humanitas Res Hosp, Rheumatol & Clin Immunol, Rozzano, Italy

[3] IRCCS Humanitas Res Hosp, Human Canc Ctr, Dept Oncol & Hematol, Rozzano, Italy

[4] IRCCS Humanitas Res Hosp, Pathol Unit, Rozzano, Italy

来源：

ANNALS OF HEMATOLOGY | 2024年 / 103卷 / 11期

关键词：

Autoinflammatory syndrome; Sanger sequencing; Bone marrow; Ageing; Immunology;

D O I：

10.1007/s00277-024-05863-0

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Vacuoles, E1-enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) syndrome is caused by mutations in the UBA1 gene in myeloid precursors, leading to systemic inflammatory manifestations. We present the case of a 75-year-old man presenting with fever, panniculitis, and macrocytic anemia testing repeatedly negative for UBA1 mutations in peripheral blood samples, but ultimately found positive on bone marrow mononuclear cell DNA. The man has been successfully treated with prednisone and methotrexate.

引用

页码：4789 / 4791

页数：3

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