Skip to main content

Main menu

  • Home
  • Content
    • First Release
    • Current
    • Archives
    • Collections
    • Audiovisual Rheum
    • 50th Volume Reprints
  • Resources
    • Guide for Authors
    • Submit Manuscript
    • Payment
    • Reviewers
    • Advertisers
    • Classified Ads
    • Reprints and Translations
    • Permissions
    • Meetings
    • FAQ
    • Policies
  • Subscribers
    • Subscription Information
    • Purchase Subscription
    • Your Account
    • Terms and Conditions
  • About Us
    • About Us
    • Editorial Board
    • Letter from the Editor
    • Duncan A. Gordon Award
    • Privacy/GDPR Policy
    • Accessibility
  • Contact Us
  • JRheum Supplements
  • Services

User menu

  • My Cart
  • Log In

Search

  • Advanced search
The Journal of Rheumatology
  • JRheum Supplements
  • Services
  • My Cart
  • Log In
The Journal of Rheumatology

Advanced Search

  • Home
  • Content
    • First Release
    • Current
    • Archives
    • Collections
    • Audiovisual Rheum
    • 50th Volume Reprints
  • Resources
    • Guide for Authors
    • Submit Manuscript
    • Payment
    • Reviewers
    • Advertisers
    • Classified Ads
    • Reprints and Translations
    • Permissions
    • Meetings
    • FAQ
    • Policies
  • Subscribers
    • Subscription Information
    • Purchase Subscription
    • Your Account
    • Terms and Conditions
  • About Us
    • About Us
    • Editorial Board
    • Letter from the Editor
    • Duncan A. Gordon Award
    • Privacy/GDPR Policy
    • Accessibility
  • Contact Us
  • Follow Jrheum on BlueSky
  • Follow jrheum on Twitter
  • Visit jrheum on Facebook
  • Follow jrheum on LinkedIn
  • Follow jrheum on YouTube
  • Follow jrheum on Instagram
  • Follow jrheum on RSS
Research ArticlePediatric Rheumatology

Majeed Syndrome: Five Cases With Novel Mutations From Unrelated Families in India With a Review of Literature

Pallavi Pimpale Chavan, Ivona Aksentijevich, Aditya Daftary, Hiren Panwala, Chetna Khemani, Archana Khan and Raju Khubchandani
The Journal of Rheumatology December 2021, 48 (12) 1850-1855; DOI: https://doi.org/10.3899/jrheum.201663
Pallavi Pimpale Chavan
1P. Pimpale Chavan, DNB Pediatrics, Fellowship in Pediatric Rheumatology, A. Khan, DCH DNB Pediatrics, R. Khubchandani, MD, Section of Pediatric Rheumatology, NH SRCC Children’s Hospital, Mumbai, India;
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Pallavi Pimpale Chavan
Ivona Aksentijevich
2I. Aksentijevich, MD, Genetics, Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA;
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Ivona Aksentijevich
Aditya Daftary
3A. Daftary, DABNM, DABR, Consultant Radiologist, H. Panwala, DNB Radiology, Fellowship in Pediatric Radiology, Consultant Pediatric Radiologist, NH SRCC Children’s Hospital, Mumbai, India;
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Hiren Panwala
3A. Daftary, DABNM, DABR, Consultant Radiologist, H. Panwala, DNB Radiology, Fellowship in Pediatric Radiology, Consultant Pediatric Radiologist, NH SRCC Children’s Hospital, Mumbai, India;
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Hiren Panwala
Chetna Khemani
4C. Khemani, DCH DNB Pediatrics, Department of Pediatrics, North Goa District Hospital, Mapusa, Goa, India.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Archana Khan
1P. Pimpale Chavan, DNB Pediatrics, Fellowship in Pediatric Rheumatology, A. Khan, DCH DNB Pediatrics, R. Khubchandani, MD, Section of Pediatric Rheumatology, NH SRCC Children’s Hospital, Mumbai, India;
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Archana Khan
Raju Khubchandani
1P. Pimpale Chavan, DNB Pediatrics, Fellowship in Pediatric Rheumatology, A. Khan, DCH DNB Pediatrics, R. Khubchandani, MD, Section of Pediatric Rheumatology, NH SRCC Children’s Hospital, Mumbai, India;
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Raju Khubchandani
  • For correspondence: rajukhubchandani{at}gmail.com
  • Article
  • Figures & Data
  • Supplemental
  • Info & Metrics
  • References
  • PDF
PreviousNext
Loading

REFERENCES

  1. 1.↵
    1. Giedion A,
    2. Holthusen W,
    3. Masel IF,
    4. Vischer D
    . Subacute and chronic “symmetrical” osteomyelitis. Ann Radiol 1972;15:329–42.
    OpenUrlPubMed
  2. 2.↵
    1. Cox AJ,
    2. Ferguson PJ
    . Update on the genetics of nonbacterial osteomyelitis in humans. Curr Opin Rheumatol 2018;30:521–5.
    OpenUrlCrossRef
  3. 3.↵
    1. Majeed HA,
    2. Kalaawi M,
    3. Mohanty D,
    4. Teebi AS,
    5. Tunjekar MF,
    6. Al-Gharbawy F, et al
    . Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings. J Pediatr 1989;115:730–4.
    OpenUrlCrossRefPubMed
  4. 4.↵
    1. Cox AJ,
    2. Zhao Y,
    3. Ferguson PJ
    . Chronic recurrent multifocal osteomyelitis and related diseases—update on pathogenesis. Curr Rheumatol Rep 2017;19:18.
    OpenUrlCrossRef
  5. 5.↵
    1. Donkor J,
    2. Zhang P,
    3. Wong S,
    4. O’Loughlin L,
    5. Dewald J,
    6. Kok BPC, et al
    . A conserved serine residue is required for the phosphatidate phosphatase activity but not the transcriptional coactivator functions of lipin-1 and lipin-2. J Biol Chem 2009;284:29968–78.
    OpenUrlAbstract/FREE Full Text
  6. 6.↵
    1. Valdearcos M,
    2. Esquinas E,
    3. Meana C,
    4. Gil-de-Gómez L,
    5. Guijas C,
    6. Balsinde J, et al
    . Subcellular localization and role of lipin-1 in human macrophages. J Immunol 2011;186:6004–13.
    OpenUrlAbstract/FREE Full Text
  7. 7.↵
    1. Valdearcos M,
    2. Esquinas E,
    3. Meana C,
    4. Peña L,
    5. Gil-de-Gómez L,
    6. Balsinde J, et al
    . Lipin-2 reduces proinflammatory signaling induced by saturated fatty acids in macrophages. J Biol Chem 2012;287:10894–904.
    OpenUrlAbstract/FREE Full Text
  8. 8.↵
    1. Lordén G,
    2. Sanjuán-García I,
    3. de Pablo N,
    4. Meana C,
    5. Alvarez-Miguel I,
    6. Pérez-García MT, et al
    . Lipin-2 regulates NLRP3 inflammasome by affecting P2X7 receptor activation. J Exp Med 2017;214:511–28.
    OpenUrlAbstract/FREE Full Text
  9. 9.↵
    1. Bhuyan F,
    2. Jesus A,
    3. Mitchell J,
    4. Leikina E,
    5. VanTries R,
    6. Herzog R, et al
    . Novel Majeed syndrome causing LPIN2 mutations link bone inflammation to inflammatory M2 macrophages and accelerated osteoclastogenesis. Arthritis Rheumatol 2021;73:1021–32.
    OpenUrl
  10. 10.↵
    1. Richards S,
    2. Aziz N,
    3. Bale S,
    4. Bick D,
    5. Das S,
    6. Gastier-Foster J et al
    . Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405–23.
    OpenUrlCrossRefPubMed
  11. 11.↵
    1. Roy NBA,
    2. Zaal AI,
    3. Hall G,
    4. Wilkinson N,
    5. Proven M,
    6. McGowan S, et al
    . Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra. Rheumatology 2020;59:448–51.
    OpenUrl
  12. 12.↵
    1. Al-Mayouf S,
    2. Almutairi A,
    3. Albrawi S,
    4. Fathalla B,
    5. Alzyoud R,
    6. AlEnazi A, et al; ediatric Arab Rheumatology Group (PRAG)
    . Pattern and diagnostic evaluation of systemic autoinflammatory diseases other than familial Mediterranean fever among Arab children: a multicenter study from the Pediatric Rheumatology Arab Group (PRAG). Rheumatol Int 2019;40:49–56.
    OpenUrl
  13. 13.↵
    1. Liu J,
    2. Hu XY,
    3. Zhao ZP,
    4. Guo RL,
    5. Guo J,
    6. Li W, et al
    . Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report. BMC Med Genet 2019;20:182.
    OpenUrl
  14. 14.↵
    1. Herlin T,
    2. Fiirgaard B,
    3. Bjerre M,
    4. Kerndrup G,
    5. Hasle H,
    6. Bing X, et al
    . Efficacy of anti-IL-1 treatment in Majeed syndrome. Ann Rheum Dis 2013;72:410–3.
    OpenUrlAbstract/FREE Full Text
  15. 15.↵
    1. Ferguson PJ,
    2. Chen S,
    3. Tayeh MK,
    4. Ochoa L,
    5. Leal SM,
    6. Pelet A, et al
    . Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet 2005;42:551–7.
    OpenUrlAbstract/FREE Full Text
  16. 16.
    1. Majeed HA,
    2. El-Shanti H,
    3. Al-Rimawi H,
    4. Al-Masri N
    . On mice and men: an autosomal recessive syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia. J Pediatr 2000;137:441–2.
    OpenUrlPubMed
  17. 17.↵
    1. Majeed HA,
    2. Al-Tarawna M,
    3. El-Shanti H,
    4. Kamel B,
    5. Al-Khalaileh F
    . The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review. Eur J Pediatr 2001;160:705–10.
    OpenUrl
  18. 18.
    1. Al-Mosawi ZS,
    2. Al-Saad KK,
    3. Ijadi-Maghsoodi R,
    4. El-Shanti HI,
    5. Ferguson PJ
    . A splice site mutation confirms the role of LPIN2 in Majeed syndrome. Arthritis Rheum 2007;56:960–4.
    OpenUrlCrossRefPubMed
  19. 19.↵
    1. Rao AP,
    2. Gopalakrishna DB,
    3. Bing X,
    4. Ferguson PJ
    . Phenotypic variability in majeed syndrome. J Rheumatol 2016;43:1258–9.
    OpenUrlFREE Full Text
  20. 20.↵
    1. Pinto-Fernández C,
    2. Seoane-Reula ME
    . Efficacy of treatment with IL-1RA in Majeed syndrome. Allergol Immunopathol 2017; 45:99–101.
    OpenUrl
  21. 21.↵
    1. Moussa T,
    2. Bhat V,
    3. Kini V,
    4. Fathalla BM
    . Clinical and genetic association, radiological findings and response to biological therapy in seven children from Qatar with non-bacterial osteomyelitis. Int J Rheum Dis 2017;20:1286–96.
    OpenUrl
  22. 22.↵
    1. Al Mosawi Z,
    2. Madan W,
    3. Al Moosawi B,
    4. Al-Wadaei S,
    5. Naser H,
    6. Ali F
    . Dramatic response of familial majeed syndrome to interleukin-1 antagonist therapy: case report. Arch Rheumatol 2019;34:352–6.
    OpenUrl
  23. 23.↵
    1. Karacan İ,
    2. Balamir A,
    3. Uğurlu S,
    4. Aydın AK,
    5. Everest E,
    6. Zor S, et al
    . Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study. Rheumatol Int 2019;39:911–9.
    OpenUrl
  24. 24.↵
    1. Dwyer J,
    2. Donkor P,
    3. Zhang L,
    4. Csaki L,
    5. Vergnes J,
    6. Lee JM, et al
    . Mouse lipin-1 and lipin-2 cooperate to maintain glycerolipid homeostasis in liver and aging cerebellum. Proc Natl Acad Sci U S A 2012;109:E2486–95.
    OpenUrlAbstract/FREE Full Text
  25. 25.↵
    1. Watahiki A,
    2. Shimizu K,
    3. Hoshikawa S,
    4. Chiba M,
    5. Kitamura H,
    6. Egusa H, et al
    . Lipin-2 degradation elicits a proinflammatory gene signature in macrophages. Biochem Biophys Res Commun 2020;524:477–83.
    OpenUrl
PreviousNext
Back to top

In this issue

The Journal of Rheumatology
Vol. 48, Issue 12
1 Dec 2021
  • Table of Contents
  • Table of Contents (PDF)
  • Index by Author
  • Editorial Board (PDF)
Print
Download PDF
Article Alerts
Sign In to Email Alerts with your Email Address
Email Article

Thank you for your interest in spreading the word about The Journal of Rheumatology.

NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

Enter multiple addresses on separate lines or separate them with commas.
Majeed Syndrome: Five Cases With Novel Mutations From Unrelated Families in India With a Review of Literature
(Your Name) has forwarded a page to you from The Journal of Rheumatology
(Your Name) thought you would like to see this page from the The Journal of Rheumatology web site.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Citation Tools
Majeed Syndrome: Five Cases With Novel Mutations From Unrelated Families in India With a Review of Literature
Pallavi Pimpale Chavan, Ivona Aksentijevich, Aditya Daftary, Hiren Panwala, Chetna Khemani, Archana Khan, Raju Khubchandani
The Journal of Rheumatology Dec 2021, 48 (12) 1850-1855; DOI: 10.3899/jrheum.201663

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero

 Request Permissions

Share
Majeed Syndrome: Five Cases With Novel Mutations From Unrelated Families in India With a Review of Literature
Pallavi Pimpale Chavan, Ivona Aksentijevich, Aditya Daftary, Hiren Panwala, Chetna Khemani, Archana Khan, Raju Khubchandani
The Journal of Rheumatology Dec 2021, 48 (12) 1850-1855; DOI: 10.3899/jrheum.201663
del.icio.us logo Twitter logo Facebook logo  logo Mendeley logo
  • Tweet Widget
  •  logo
Bookmark this article

Jump to section

  • Article
    • Abstract
    • METHODS
    • RESULTS
    • DISCUSSION
    • ACKNOWLEDGMENT
    • Footnotes
    • REFERENCES
    • ONLINE SUPPLEMENT
  • Figures & Data
  • Supplemental
  • Info & Metrics
  • References
  • PDF

Keywords

CRMO
dyserythropoietic anemia
LPIN2 mutation
Majeed syndrome
neutrophilic dermatosis

Related Articles

Cited By...

More in this TOC Section

  • Clinical Correlates of a Successful Transition in Pediatric Rheumatology
  • Clinical Disease Manifestations Associated With Tumor Necrosis Factor Inhibitor Nonresponse in Juvenile Spondyloarthritis
  • Changes in Transition Readiness in Youth With Juvenile Idiopathic Arthritis and Systemic Lupus Erythematosus: A Longitudinal Study
Show more Pediatric Rheumatology

Similar Articles

Keywords

  • CRMO
  • dyserythropoietic anemia
  • LPIN2 mutation
  • Majeed syndrome
  • neutrophilic dermatosis

Content

  • First Release
  • Current
  • Archives
  • Collections
  • Audiovisual Rheum
  • COVID-19 and Rheumatology

Resources

  • Guide for Authors
  • Submit Manuscript
  • Author Payment
  • Reviewers
  • Advertisers
  • Classified Ads
  • Reprints and Translations
  • Permissions
  • Meetings
  • FAQ
  • Policies

Subscribers

  • Subscription Information
  • Purchase Subscription
  • Your Account
  • Terms and Conditions

More

  • About Us
  • Contact Us
  • My Alerts
  • My Folders
  • Privacy/GDPR Policy
  • RSS Feeds
The Journal of Rheumatology
The content of this site is intended for health care professionals.
Copyright © 2025 by The Journal of Rheumatology Publishing Co. Ltd.
Print ISSN: 0315-162X; Online ISSN: 1499-2752
Powered by HighWire