论文信息 - Two siblings with Majeed syndrome and neutropenia - 字舞流文

Two siblings with Majeed syndrome and neutropenia

syndrome (MS) is a rare monogenic autoinflammatory disease

Y. Bilginer | Ozge Basaran | U. Kaya Akca | E. Atalay | Muserref Kasap Cuceoglu | Z. Balik | S. Şener | Seza Ozen | Ezgi Deniz Batu | Adalet Elcin Yildiz

[1] P. Ferguson,et al. Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features , 2021, Biomolecules.

[2] Chanjuan Hao,et al. Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report , 2019, BMC Medical Genetics.

[3] H. Naser,et al. Dramatic Response of Familial Majeed Syndrome to Interleukin-1 Antagonist Therapy: Case report. , 2019, Archives of rheumatology.

[4] P. Ferguson,et al. A splice site mutation confirms the role of LPIN2 in Majeed syndrome. , 2007, Arthritis and rheumatism.

[5] P. Ferguson,et al. Majeed Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY , 1993 .