Ocular involvement in monogenic autoinflammatory disease

Maccora, Ilaria; Marrani, Edoardo; Mastrolia, Maria Vincenza; Abu‐Rumeileh, Sarah; Maniscalco, Valerio; Fusco, Eleonora; Barbati, Federica; Pagnini, Ilaria; Simonini, Gabriele

doi:10.1016/j.autrev.2021.102944

Cited by 21 publications

(51 citation statements)

References 187 publications

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“…Depending on the underlying immune mechanisms, SAIDs can be categorized into inflammasomopathies and interferonopathies. Both categories are associated with uveitis, but the most commonly associated SAIDs comprise cryopyrin-associated periodic syndromes (CAPS), familial Mediterranean fever (FMF), TNF receptor associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MVKD), Blau's syndrome (BS), deficiency of adenosine deaminase 2 (DADA2) and haploinsufficiency of A20 (HA20), Aicardi-Goutieres syndrome (AGS), and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) ( 116 , 119 ).…”

Section: Non-infectious Uveitismentioning

confidence: 99%

“…According to the literature reports, nearly all SAIDs are associated with transient or chronic recurrent ocular inflammation of varying severity and diversity and in some cases leading to severe ocular impairment. CAPS and Blau's syndrome are more frequently associated with moderate to severe eye inflammation ( 116 ).…”

Section: Non-infectious Uveitismentioning

confidence: 99%

“…However, a chronic anterior non-granulomatous uveitis is seen roughly in half of CAPS patients, and other uveitis types may develop. Patients with NOMID may also develop papilledema related to high intracranial pressure secondary to CNS involvement ( 116 , 119 , 120 ).…”

Section: Non-infectious Uveitismentioning

confidence: 99%

“…Blau's Syndrome, NFkB activation disorders caused by mutation in NOD2/CARD15 gene, share common clinical features with early-onset sarcoidosis, including recurrent fever, granulomatous dermatitis, sterile arthritis, and ocular inflammation, particularly granulomatours anterior and panuveitis ( 116 , 118 , 120 ).…”

Section: Non-infectious Uveitismentioning

confidence: 99%

“…The ocular manifestation is less frequently reported with anterior uveitis being the dominant ocular finding, followed by retinal dystrophy and cataract formation in severe cases. The latter is explained by a direct toxicity of mevalonic acid on the retina and lens ( 116 , 118 ).…”

Section: Non-infectious Uveitismentioning

confidence: 99%

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Pediatric uveitis: Role of the pediatrician

et al. 2022

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The challenges of childhood uveitis lie in the varied spectrum of its clinical presentation, the often asymptomatic nature of disease, and the evolving nature of the phenotype alongside normal physiological development. These issues can lead to delayed diagnosis which can cause significant morbidity and severe visual impairment. The most common ocular complications include cataracts, band keratopathy, glaucoma, and macular oedema, and the various associated systemic disorders can also result in extra-ophthalmic morbidity. Pediatricians have an important role to play. Their awareness of the various presentations and etiologies of uveitis in children afford the opportunity of prompt diagnosis before complications arise. Juvenile Idiopathic Arthritis (JIA) is one of the most common associated disorders seen in childhood uveitis, but there is a need to recognize other causes. In this review, different causes of uveitis are explored, including infections, autoimmune and autoinflammatory disease. As treatment is often informed by etiology, pediatricians can ensure early ophthalmological referral for children with inflammatory disease at risk of uveitis and can support management decisions for children with uveitis and possible underling multi-system inflammatory disease, thus reducing the risk of the development of irreversible sequelae.

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Section: Non-infectious Uveitismentioning

confidence: 99%

Section: Non-infectious Uveitismentioning

confidence: 99%

Section: Non-infectious Uveitismentioning

confidence: 99%

Section: Non-infectious Uveitismentioning

confidence: 99%

Section: Non-infectious Uveitismentioning

confidence: 99%

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Pediatric uveitis: Role of the pediatrician

et al. 2022

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Management of Blau syndrome: review and proposal of a treatment algorithm

Lassoued Ferjani,

Kharrat,

Ben Nessib

et al. 2023

Eur J Pediatr

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Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review

et al. 2022

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Background and Purpose Sideroblastic anaemia with B-cell immunodeficiency, periodic fever and developmental delay (SIFD) syndrome is a novel rare autoinflammatory multisystem disorder. We performed a systematic review of the available clinical and therapeutics aspects of the SIFD syndrome. Methods A systematic review according to PRISMA approach, including all articles published before the 30th of July 2021 in Pubmed and EMBASE database, was performed. Results The search identified 29 publications describing 58 unique patients. To date, 41 unique mutations have been reported. Onset of disease is very early with a median age of 4 months (range 0–252 months). The most frequent manifestations are haematologic such as microcytic anaemia or sideroblastic anaemia (55/58), recurrent fever (52/58), neurologic abnormalities (48/58), immunologic abnormalities in particular a humoral immunodeficiency (48/58), gastrointestinal signs and symptoms (38/58), eye diseases as cataract and retinitis pigmentosa (27/58), failure to thrive (26/58), mucocutaneous involvement (29/58), sensorineural deafness (19/58) and others. To date, 19 patients (35.85%) died because of disease course (16) and complications of hematopoietic cell stems transplantation (3). The use of anti-TNFα and hematopoietic cell stems transplantation (HCST) is dramatically changing the natural history of this disease. Conclusions SIFD syndrome is a novel entity to consider in a child presenting with recurrent fever, anaemia, B-cell immunodeficiency and neurodevelopmental delay. To date, therapeutic guidelines are lacking but anti-TNFα treatment and/or HCST are attractive and might modify the clinical course of this syndrome.

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Ocular involvement in monogenic autoinflammatory disease

Cited by 21 publications

References 187 publications

Pediatric uveitis: Role of the pediatrician

Pediatric uveitis: Role of the pediatrician

Management of Blau syndrome: review and proposal of a treatment algorithm

Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review

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