Autoinflammatory Diseases in Childhood

Yıldız, Mehmet; Haşlak, Fatih; Adroviç, Amra; Barut, Kenan; Kasapçopur, Özgür

doi:10.4274/balkanmedj.galenos.2020.2020.4.82

Cited by 28 publications

(26 citation statements)

References 82 publications

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“…The authors suggested that the similar cytokine alterations may cause PFAPA syndrome during childhood and BD during adulthood. PFAPA syndrome is one of the most common periodic fever syndromes in childhood and its characteristic finding is oral aphthous lesions and fever episodes ( 54 , 55 ). Despite its higher frequency in childhood, it is rarely reported in adulthood ( 56 ).…”

Section: Etiopathogenesis and Genetic Backgroundmentioning

confidence: 99%

Pediatric Behçet's Disease

et al. 2021

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Behçet's Disease (BD) is a systemic vasculitis firstly described as a disorder causing aphthous lesion in oral and genital mucosae and uveitis. The disease has an extremely unique distribution characterized by the highest incidence in communities living along the historical Silk road. Although our understanding of the etiopathogenesis of BD has expanded over time, there are still lots of unidentified points in the underlying mechanisms of the disease. The accepted opinion in the light of the current knowledge is that various identified and/or unidentified infectious and/or environmental triggers can take a role as a trigger in individuals with genetic susceptibility. Although the disease usually develops in young adulthood, it is reported that about 15–20% of all Behçet's patients develop in childhood. Pediatric BD differs from adult BD not only with the age of onset but also in the frequency and distribution of clinical findings, disease severity and outcome. While gastrointestinal system involvement, neurological findings, arthralgia and positive family history are more common in children, genital lesions and vascular lesions are more common in adult patients. In addition, a better disease outcome with lower severity score and activity index has been reported in children. The diagnosis of the disease is made according to clinical findings. It can be challenging to diagnose the disease due to the absence of a specific diagnostic test, and the long time interval from the first finding of the disease to the full-blown disease phenotype in pediatric cases. Therefore, many classification criteria have been proposed so far. The widely accepted ones are proposed by the International Study Group. The new sets of classification criteria which is the only one for pediatric BD were also developed for pediatric cases by the PEDBD group. The primary goal for the treatment is preventing the organ damages by suppressing the ongoing inflammation and forestalling the disease flares. The treatment of the BD can be onerous due to its multisystemic nature and a multidisciplinary approach is essential for the management of the patients. In this review article, the definition, clinical findings, epidemiology, etiopathogenesis, and treatment will be discussed.

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Section: Etiopathogenesis and Genetic Backgroundmentioning

confidence: 99%

Pediatric Behçet's Disease

et al. 2021

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“…NLRP3 is also associated with autosomal dominant deafness 34 (with or without inflammation), postulated to be gain-of-function [ 129 ] and keratoendotheliitis fugax hereditaria [ 15 ]. Diagnostic approaches for children with suspected autoinflammatory diseases such as the cryopyrin-associated periodic syndromes have been described [ 130 ]. Developmental delay, growth restriction, and history of hospitalization for severe infections are more suggestive of immunodeficiency; night sweats, night pains, weight loss, generalized lymphadenopathy, and hepatosplenomegaly are features more consistent with malignancy.…”

Section: Genetic Disorders and Features Of Innate Immune Pathway Componentsmentioning

confidence: 99%

“…Developmental delay, growth restriction, and history of hospitalization for severe infections are more suggestive of immunodeficiency; night sweats, night pains, weight loss, generalized lymphadenopathy, and hepatosplenomegaly are features more consistent with malignancy. Autoinflammatory disease should be suspected in the setting of normal growth and development patterns, presence of an asymptomatic state between episodes, positive family history, and a history of similar episodes [ 130 ]. FCAS is characterized by recurrent episodes of a maculopapular rash associated with arthralgias, myalgias, fevers and chills, and swelling of extremities subsequent to cold exposure [ 131 ].…”

Section: Genetic Disorders and Features Of Innate Immune Pathway Componentsmentioning

confidence: 99%

Immunogenetics of the Ocular Anterior Segment: Lessons from Inherited Disorders

Serpen

Armenti

Prasov

2021

Journal of Ophthalmology

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Autoimmune and autoinflammatory diseases cause morbidity in multiple organ systems including the ocular anterior segment. Genetic disorders of the innate and adaptive immune system present an avenue to study more common inflammatory disorders and host-pathogen interactions. Many of these Mendelian disorders have ophthalmic manifestations. In this review, we highlight the ophthalmic and molecular features of disorders of the innate immune system. A comprehensive literature review was performed using PubMed and the Online Mendelian Inheritance in Man databases spanning 1973–2020 with a focus on three specific categories of genetic disorders: RIG-I-like receptors and downstream signaling, inflammasomes, and RNA processing disorders. Tissue expression, clinical associations, and animal and functional studies were reviewed for each of these genes. These genes have broad roles in cellular physiology and may be implicated in more common conditions with interferon upregulation including systemic lupus erythematosus and type 1 diabetes. This review contributes to our understanding of rare inherited conditions with ocular involvement and has implications for further characterizing the effect of perturbations in integral molecular pathways.

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“…9 The most frequent mutations described in our country are M694V , M694I, M680I, V726A, and E148Q , in order of decreasing frequency. 3 , 4 Although the genotype–phenotype correlations have not been clarified definitively yet, it is well-known that M694V mutations are associated with a more severe phenotype and amyloidosis. 3 ,10, 11 …”

Section: Introductionmentioning

confidence: 99%

Prediction of More Severe MEFV Gene Mutations in Childhood

Güneş-Yılmaz

Kasap-Demir

Soyaltın

et al. 2021

Turk Arch Pediatrics

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Aim: This study aimed to present the demographic, clinical, and laboratory features of children clinically diagnosed with familial Mediterranean fever (FMF) and to predict more severe mutations by evaluating those findings. Methods: We enrolled cases diagnosed with FMF with a defined variation in at least one allele. The medical charts of the patients were reviewed retrospectively. The patients were grouped as homozygous, compound heterozygous, and simple heterozygous cases, with and without M694V mutation. We compared the data between the subgroups using logistic regression analysis and determined the risk factors for being homozygous or compound heterozygous for M694V. Results: A total of 263 (M/F =109/154) cases were included. The mean age at the onset of symptoms, follow-up duration, and time to diagnosis were 6.75 ± 3.9 (0.25-17) years, 51.78 ± 39.31 (6-166) months, and 9.23 ± 14.44 (1-132) months, respectively. The rates of parental consanguinity, positive family history for FMF, and FMF in a first-degree relative were 15%, 42%, and 31.4% respectively. The most common symptom was abdominal pain (85%). There was no difference between the growth parameters of the cases during the initial and final control periods. The most frequent alleles were M694V , E148Q , and V726A . The most common accompanying disease was IgA vasculitis (20%). Almost 90% of the cases fulfilled all the defined criteria. The rate of patients having a first-degree relative with FMF was higher, Hb values were lower, and the erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) values were higher during the attack period; the ESR and CRP values were higher in the attack-free period; and Pras disease severity scores were higher in homozygous or compound heterozygous cases carrying M694V . The presence of FMF in a first-degree relative increases the probability of being homozygous and compound heterozygous for M694V by a factor of 2.39; and each 1 unit increase in the Pras score increases this probability by a factor of 1.43. The threshold Pras score for this possibility is 5.5 (AUC = 0.651; 95% CI, 0.545-0.757; P = .006; sensitivity, 65%; specificity, 55%). Conclusion: M694V was the most common and severe mutation in our cohort. The presence of a first-degree relative with FMF and Pras scores ≥5.5 may predict a homozygous or compound heterozygous mutation for M694V .

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Autoinflammatory Diseases in Childhood

Cited by 28 publications

References 82 publications

Pediatric Behçet's Disease

Pediatric Behçet's Disease

Immunogenetics of the Ocular Anterior Segment: Lessons from Inherited Disorders

Prediction of More Severe MEFV Gene Mutations in Childhood

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