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

Chavan, Pallavi Pimpale; Aksentijevich, Ivona; Daftary, Aditya; Panwala, Hiren; Khemani, Chetna; Khan, Archana; Khubchandani, Raju

doi:10.3899/jrheum.201663

Cited by 6 publications

(3 citation statements)

References 24 publications

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“…The individuals we described had clinical features comparable to the previously reported individuals. Some of the atypical features reported previously include recurrent abdominal pain, recurrent diarrhoea, recurrent unilateral serous discharge, and erythema nodosum (Chavan et al ., 2021).…”

Section: Discussionmentioning

confidence: 88%

LPIN2-related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literature

Badiger,

Balan,

Madan

et al. 2023

Clinical Dysmorphology

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LPIN2-related Majeed syndrome (MIM# 609628) is a rare non-inflammasome autoinflammatory disease, caused due to biallelic variants in LPIN2 (MIM* 605519). To date, only 31 individuals from 18 families have been reported with this rare condition. Exome sequencing was done in two affected individuals from two unrelated families. Additionally, phenotypic, and genotypic information from the literature was reviewed. Two novel homozygous missense variants, c.2207G>A p. (Arg736His) and c.1157C>G p. (Ser386Ter) in LPIN2, were identified in family 1 and family 2 respectively. Chronic recurrent osteomyelitis involving the lower extremities was the most common clinical presentation. LPIN2-related Majeed syndrome should be considered as a differential diagnosis in an individual with clinical or radiological evidence of recurrent sterile osteomyelitis and chronic anaemia.

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Section: Discussionmentioning

confidence: 88%

LPIN2-related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literature

Badiger,

Balan,

Madan

et al. 2023

Clinical Dysmorphology

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“…In some patients affected by CRMO, single-gene defects have been identified. Clinical geneticists have also identified some similarities with Majeed syndrome, which is extremely rare, being described in only 24 individuals from 10 families, and is characterized by recurrent episodes of fever and osteomyelitis, and dermatitis ( 33 , 34 ).…”

Section: Etio-pathogenesismentioning

confidence: 99%

Chronic recurrent multifocal osteomyelitis. A narrative and pictorial review

et al. 2022

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Chronic recurrent and multifocal osteomyelitis (CRMO) is a nonsporadic autoinflammatory disorder. Currently, it is diagnosed based on clinical, radiologic, pathological, and longitudinal data. Numerous aspects should be highlighted due to increased knowledge in imaging and immunology. We emphasize the use of whole-body MRI, which is a non-invasive diagnostic strategy. A literature review was carried out on longitudinal studies. Commonly, the mean age at diagnosis is 11 years, ranging between 3 and 17. The most common sites are the long bone metaphysis, particularly femoral and tibial metaphysis. In addition, the pelvis, spine, clavicle, and mandible may be involved. In long bones, the radiologic appearance can show typical structure, mixed lytic and sclerotic, sclerotic or lytic. It is frequently metaphyseal or juxta-physeal, with hyperostosis or periosteal thickening. The involvement of the vertebral skeleton is often multifocal. Therefore, whole-body MRI is essential in identifying subclinical lesions. CRMO is a polymorphic disorder in which whole-body MRI is beneficial to demonstrate subclinical edema. Vertebral collapse requires long-term monitoring.

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“…MJS presents with early-onset recurrent osteitis and multifocal osteomyelitis, and congenital dyserythropoietic anemia. A study in India showed that patients with MJS also had other unreported symptoms, including abdominal pain, recurrent diarrhea and ear secretions [ 65 ]. Lesional skin biopsies show a dermal neutrophilic infiltrate with edema of the upper dermis without histologic evidence of vasculitis.…”

Section: Introductionmentioning

confidence: 99%

Pathophysiology, clinical manifestations and current management of IL-1 mediated monogenic systemic autoinflammatory diseases, a literature review

2022

Pediatr Rheumatol

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Background Systemic autoinflammatory diseases (SAIDs) are hyperinflammatory and immune-dysregulation conditions that present in childhood. This kind of disease is a rare disease with early-onset, severe condition and difficult diagnosis, which seriously affects the growth and development of children. Most children need a genetic diagnosis. However, with the limitation of access to genetic testing and the detection of somatic mutations, the diagnosis of SAIDs remains challenging. IL-1 is one of the important cytokines involved in the pathogenesis of SAIDs. Here we briefly review monogenic SAIDs mediated by aberrant IL-1 production, with the aim to further understand the pathogenesis, clinical manifestations and treatments of IL-1 mediated SAIDs. Methods Literature reviews were performed using “PubMed” and “Web of Science” by searching for the terms “autoinflammatory diseases” and “IL-1”. Results Monogenic SAIDs mediated by IL-1 include MKD, FMF, TRAPS, PAAND, PAPA, CAPS, DIRA, Majeed syndrome, NAIAD, NLRC4-MAS, PFIT, APLAID. Monogenic SAIDs have early onset, various clinical manifestations and difficult diagnosis, so early recognition and early treatment can reduce the complications and enhance the quality of life. Conclusions There are many kinds of IL-1 mediated SAIDs. Pediatricians should be alert to SAIDs in the face of the patients with repeated fever, repeated rash and poor effect of routine treatment. The patients should be carried out with gene testing and treatment in time.

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

Cited by 6 publications

References 24 publications

LPIN2-related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literature

LPIN2-related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literature

Chronic recurrent multifocal osteomyelitis. A narrative and pictorial review

Pathophysiology, clinical manifestations and current management of IL-1 mediated monogenic systemic autoinflammatory diseases, a literature review

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