Two siblings with Majeed syndrome and neutropenia

Majeed syndrome (MS) is a rare monogenic autoinflammatory disease characterized with early-onset chronic non-bacterial osteitis (CNO) and hematological features, particularly dyserythropoietic microcytic anemia.1 It is associated with loss-of-function mutations of the LPIN2 gene on chromosome 18.2 N...

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Bibliographic Details
Published inArchives of rheumatology Vol. 37; no. 4; pp. 638 - 640
Main Authors Cuceoglu, Muserref Kasap, Batu, Ezgi Deniz, Yildiz, Adalet Elcin, Akca, Ummusen Kaya, Atalay, Erdal, Sener, Seher, Balik, Zeynep, Basaran, Ozge, Bilginer, Yelda, Ozen, Seza
Format Journal Article
LanguageEnglish
Published Istanbul Turkish League Against Rheumatism 01.12.2022
Prof Sebnem Ataman, President Turkish League Against Rheumatism
Subjects
Anemia
Authorship
Bone marrow
Case reports
Conflicts of interest
Cytokines
Fever
Genetic aspects
Letter
Magnetic resonance imaging
Mutation
Neutropenia
Pain
Patients
Pediatrics
Siblings
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Summary:Majeed syndrome (MS) is a rare monogenic autoinflammatory disease characterized with early-onset chronic non-bacterial osteitis (CNO) and hematological features, particularly dyserythropoietic microcytic anemia.1 It is associated with loss-of-function mutations of the LPIN2 gene on chromosome 18.2 Neutropenia has been very rarely reported in patients with MS.1 We herein report the first siblings of MS from Türkiye, both of whom had neutropenia. A periodic fever gene panel analysis (including LPIN2, MEFV, MVK, NLRP3, PSTPIP1, and TNFRSF1Agenes) was performed with nextgeneration sequencing and homozygous mutation was detected in exon 4 of the LPIN2 (NM_014646.2) gene; c.589C>T (p. Arg197Ter) in both patients. [...]we herein present the first cases with neutropenia who were homozygous for p. Arg197· mutation in LPIN2 gene.
ISSN:2148-5046
1309-0291
2618-6500
1309-0283
DOI:10.46497/ArchRheumatol.2022.9437