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1.
Med. infant ; 30(2): 191-197, Junio 2023. ilus
Article in Spanish | LILACS, UNISALUD, BINACIS | ID: biblio-1443762

ABSTRACT

Las enfermedades autoinflamatorias (AIDs) son un grupo heterogéneo de desórdenes monogénicos o poligénicos, con características de disregulación inmune innata y/o adaptativa, cuyo mecanismo central es la autoinflamación pero también pueden presentarse con autoinmunidad e inmunodeficiencia. En estos últimos años el desarrollo de las tecnologías de secuenciación masiva han provocado una explosión en el descubrimiento de nuevos genes responsables de AIDs monogénicas. Esto remarca la importancia de implementar este tipo de estudios para llegar a un diagnóstico definitivo sobre todo en este grupo de patologías genéticamente muy diversas donde los fenotipos clínicos se solapan. Sin embargo, dada la presencia de variantes de significación incierta (VUS), los resultados pueden no ser concluyentes planteándose la necesidad de desarrollar pruebas funcionales para determinar la patogenicidad de dichas variantes genéticas. En nuestro grupo de trabajo estamos aplicando la PCR digital en gotas (ddPCR), una técnica cuantitativa de 3era generación altamente sensible, especifica y reproducible que no necesita de curvas de calibración, para desarrollar pruebas funcionales que permitan no sólo reclasificar variantes VUS para lograr diagnósticos definitivos sino también estudiar los mecanismos responsables de las principales AIDs que permitan una estratificación de las terapéuticas especificas a aplicar y de esta manera poder contribuir al diagnóstico, tratamiento y seguimiento de nuestros pacientes en forma personalizada. (AU)


Autoinflammatory diseases (AIDs) are a heterogeneous group of monogenic or polygenic disorders, with characteristics of inborn and/or adaptive immune dysregulation, whose central mechanism is autoinflammation but may also present with autoimmunity and immunodeficiency. In recent years the development of massive sequencing technologies has led to an exponential increase in the discovery of new genes responsible for monogenic AIDs. This emphasizes the importance of the implementation of this type of studies to make a definitive diagnosis, especially in this group of genetically very diverse diseases with overlapping clinical phenotypes. However, given the presence of variants of uncertain significance (VUS), the results may not be conclusive, raising the need to develop functional tests to determine the pathogenicity of these genetic variants. In our working group we are applying droplet digital PCR (ddPCR), a highly sensitive, specific and reproducible third generation quantitative technique that does not require calibration curves, to develop functional tests that allow not only to reclassify VUS variants to achieve definitive diagnoses but also to study the mechanisms responsible for the main AIDs that allow for the stratification of specific treatments to be used and thereby contribute to the individualized diagnosis, treatment, and follow-up of our patients (AU)


Subject(s)
Humans , Male , Female , Child , Adolescent , Autoimmune Diseases/diagnosis , Therapeutics/instrumentation , Polymerase Chain Reaction/methods , Hereditary Autoinflammatory Diseases/diagnosis , Hereditary Autoinflammatory Diseases/genetics , High-Throughput Nucleotide Sequencing , Laboratories, Hospital
2.
Chinese Journal of Pediatrics ; (12): 1098-1102, 2023.
Article in Chinese | WPRIM | ID: wpr-1013231

ABSTRACT

Objective: To summarize the clinical characteristics of tumour necrosis factor receptor-associated periodic syndrome (TRAPS) in children. Methods: The clinical manifestations, laboratory tests, genetic testing and follow-up of 10 children with TRAPS from May 2011 to May 2021 in 6 hospitals in China were retrospectively analyzed. Results: Among the 10 patients with TRAPS, including 8 boys and 2 girls. The age of onset was 2 (1, 5) years, the age of diagnosis was (8±4) years, and the time from onset to diagnosis was 3 (1, 7) years. A total of 7 types of TNFRSF1A gene variants were detected, including 5 paternal variations, 1 maternal variation and 4 de novo variations. Six children had a family history of related diseases. Clinical manifestations included recurrent fever in 10 cases, rash in 4 cases, abdominal pain in 6 cases, joint involvement in 6 cases, periorbital edema in 1 case, and myalgia in 4 cases. Two patients had hematological system involvement. The erythrocyte sedimentation rate and C-reactive protein were significantly increased in 10 cases. All patients were negative for autoantibodies. In the course of treatment, 5 cases were treated with glucocorticoids, 7 cases with immunosuppressants, and 7 cases with biological agents. Conclusions: TRAPS is clinically characterized by recurrent fever accompanied by joint, gastrointestinal, skin, and muscle involvement. Inflammatory markers are elevated, and autoantibodies are mostly negative. Treatment mainly involves glucocorticoids, immunosuppressants, and biological agents.


Subject(s)
Male , Child , Female , Humans , Child, Preschool , Receptors, Tumor Necrosis Factor, Type I/genetics , Retrospective Studies , Hereditary Autoinflammatory Diseases/drug therapy , Glucocorticoids/therapeutic use , Biological Factors/therapeutic use , Immunosuppressive Agents/therapeutic use , Autoantibodies , Familial Mediterranean Fever/diagnosis , Mutation
3.
Chinese Journal of Pediatrics ; (12): 114-118, 2022.
Article in Chinese | WPRIM | ID: wpr-935653

ABSTRACT

Objective: To summarize the clinical characteristics of inflammasomopathies, enhance the recognition of those diseases, and help to establish the early diagnosis. Methods: The clinical manifestations including fever, rash, systems involvement as well as laboratory results and genotypic characteristics of 35 children with inflammasomopathies diagnosed by the Department of Pediatrics, Peking Union Medical College Hospital, from January 1, 2008 to December 31, 2020 were analyzed retrospectively. Results: A total of 35 cases of inflammasomopathies were diagnosed, and 20 of them were boys while 15 were girls. Inflammasomopathies patients have early onset, the age of onset as well as diagnostic age were 1 (0,7) and 7 (3,12), respectively. Among those patients, 10 had familial mediterranean fever, 3 had mevalonate kinase deficiency, 15 cases had NLRP3 gene associated autoinflammatory disease, 4 cases had NLRP12-associated autoinflammatory disease, 2 cases had familial cold autoinflammatory syndrome 3, and 1 case had familial cold autoinflammatory syndrome 4. A total of 34 cases (97%) showed recurrent fever, 27 cases (77%) had skin rashes, while 11 cases (31%), 10 cases (29%), and 8 cases (23%) were presented with lymphadenopathy, hepatosplenomegaly and growth retardation, respectively. In terms of systemic involvement, there were 18 cases (51%), 12 cases (34%), 8 cases (23%), and 5 cases (14%) with skeletal, neurological, auditory, and renal involvement, respectively. Central nervous system involvement was seen only in NLRP3 gene associtated autoinflammatory diseases (12 cases), sensorineural deafness was seen in NLRP3 gene associtated autoinflammatory diseases (6 cases) and NLRP12 gene associated autoinflammatory diseases (2 cases), and abdominal pain was observed in familial Mediterranean fever (5 cases), mevalonate kinase deficiency (1 case) and NLRP12 gene related autoinflammatory diseases (1 case). In the acute inflammatory phase, the acute phase reactants (erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP)) of 35 cases (100%) were significantly increased. There were 21 cases received ferritin examination, and only 4 cases (19%) showed an increase of it. In terms of autoantibodies, among all 35 patients, 4 cases (11%) were positive for antinuclear antibodies (ANA). Conclusions: Fever, skin rash, and skeletal manifestations are the most common clinical features, accompanied with increased CRP and ESR, and negative results of autoantibodies such as ANA. The clinical manifestations of those diseases are complex and diverse, and it is prone to delayed diagnosis and treatment.


Subject(s)
Child , Female , Humans , Male , Familial Mediterranean Fever , Fever/etiology , Genotype , Hereditary Autoinflammatory Diseases , Retrospective Studies
4.
Med. lab ; 26(2): 115-118, 2022. ilus, Tabs
Article in Spanish | LILACS | ID: biblio-1371148

ABSTRACT

La pericarditis se refiere a la inflamación de las capas del pericardio y es la forma más común de enfermedad pericárdica. Puede estar asociada a derrame pericárdico y resultar en un taponamiento. La enfermedad puede ser una condición aislada o una manifestación cardíaca de un trastorno sistémico (por ejemplo, enfermedades autoinmunes o autoinflamatorias). La pericarditis se categoriza como aguda, incesante, recurrente o crónica, pero se debe tener en cuenta que también se clasifica como de etiología infecciosa y no infecciosa, siendo la presentación idiopática la más común


Pericarditis refers to inflammation of the layers of the pericardium and is the most common form of pericardial disease. It may be associated with pericardial effusion and result in tamponade. The disease may be an isolated condition or a cardiac manifestation of a systemic disorder (e.g., autoimmune or autoinflammatory diseases). Pericarditis is categorized as acute, incessant, recurrent, or chronic, but it should be noted that it is also classified as being of infectious and noninfectious etiology, with the idiopathic presentation being the most common


Subject(s)
Pericarditis , Pericardium , Autoimmune Diseases , Coronary Disease , Hereditary Autoinflammatory Diseases
5.
Arq. Asma, Alerg. Imunol ; 5(1): 51-55, jan.mar.2021. ilus
Article in Portuguese | LILACS | ID: biblio-1398413

ABSTRACT

As síndromes autoinflamatórias são doenças raras, genéticas de envolvimento prioritário da imunidade inata. Avanços nas técnicas de sequenciamento genético permitiram dissecar os genes envolvidos nestas doenças, continuamente organizando o quebra-cabeça genético e fisiopatológico de tais desordens. Este artigo revisa os últimos achados genéticos com seus respectivos fenótipos, código OMIM e ORPHA. Além disso, sugere cautela na triagem clínica e na indicação de métodos restritivos de sequenciamentos genéticos.


Autoinflammatory diseases comprise a group of rare, genetic disorders with priority involvement of innate immunity. Advances in genetic sequencing techniques allowed genetic dissection of genes involved in these diseases, with continuous organization of the genetic and pathophysiologic puzzle of these disorders. This article reviews the most recent genetic findings linked to respective phenotypes and OMIM and ORPHA codes. Moreover, it suggests caution in clinical screening and genetic sequencing indication with restrictive genetic panels.


Subject(s)
Humans , Hereditary Autoinflammatory Diseases , Genetic Diseases, Inborn , Immunity, Innate , Mass Screening , Triage , Databases, Genetic , Rare Diseases
6.
Rev. cuba. hematol. inmunol. hemoter ; 34(1): 5-20, ene.-mar. 2018.
Article in Spanish | LILACS, CUMED | ID: biblio-978402

ABSTRACT

Los desórdenes autoinflamatorios hereditarios constituyen una gama de condiciones heterogéneas que tienen como característica común la aparición de ataques no provocados de inflamación, la cual podría ser sistémica u ocurrir en nichos localizados del organismo. Dentro de estos se encuentran los síndromes hereditarios de fiebre periódica, caracterizados por ataques cortos y recurrentes de fiebre e inflamación localizada grave, que ocurre periódica o irregularmente y que no se explican por las infecciones usuales de la infancia. Forma parte de estas entidades el síndrome periódico asociado al receptor del factor necrosis tumoral, el cual se caracteriza por episodios de fiebre prolongada, mialgias, dolor abdominal, eritema cutáneo migratorio, conjuntivitis o edema periorbitario, con un patrón de herencia autosómico dominante. Lo más importante para el diagnóstico es el análisis genético y su pronóstico está determinado por la aparición de amiloidosis. En 1999, se descubrió su base genética, al identificarse las mutaciones causantes de la enfermedad en el gen que codifica para la superfamilia 1 A del receptor del factor de necrosis tumoral. En años recientes se han logrado avances significativos en el diagnóstico y tratamiento de esta enfermedad gracias a un mejor conocimiento de su patogénesis. En este trabajo se describen los aspectos más relevantes en cuanto a patogénesis, relación de las mutaciones con el fenotipo de la enfermedad, características clínicas y tratamiento(AU)


Hereditary autoinflammatory disorders are a range of heterogeneous conditions that have as a common feature the appearance of unprovoked inflammatory attacks, which may be systemic or occur in localized niches of the body. Among these are hereditary periodic fever syndrome, characterized by short and recurrent attacks of fever and severe localized inflammation, occurring periodically or irregularly and not explained by the usual infections of childhood. Tumor necrosis factor receptor-associated periodic syndrome is part of these entities and is characterized by episodes of prolonged fever, myalgias, abdominal pain, migratory cutaneous erythema, conjunctivitis and/or periorbital edema, with an autosomal dominant inheritance pattern. The most important for the diagnosis is the genetic analysis and its prognosis is determined by the appearance of amyloidosis. In 1999 its genetic basis was discovered by identifying disease-causing mutations in the gene encoding tumor necrosis factor receptor superfamily member 1A. In recent years, significant advances have been achieved in the diagnosis and treatment of this disease, thanks to a better understanding of its pathogenesis. This paper describes the most relevant aspects regarding pathogenesis, relation of mutations with the disease phenotype, clinical characteristics and treatment(AU)


Subject(s)
Humans , Male , Female , Lymphotoxin-alpha/genetics , Hereditary Autoinflammatory Diseases , Hereditary Autoinflammatory Diseases/epidemiology , Seizures, Febrile
7.
Arq. Asma, Alerg. Imunol ; 1(1): 114-119, jan.mar.2017. ilus
Article in Portuguese | LILACS | ID: biblio-1380323

ABSTRACT

As doenças autoinflamatórias são doenças inflamatórias raras cujo cerne imunológico baseia-se na imunidade inata. A maioria das doenças autoinflamatórias tem início na idade pediátrica, mas pouco se sabe sobre as doenças que se iniciam na vida adulta. O diagnóstico é feito por exclusão, e, quando possível, com auxílio de técnicas moleculares. Este artigo tem como objetivo relatar um caso de doença autoinflamatória de início na vida adulta e a partir dele estabelecer fluxograma de auxílio ao diagnóstico.


Autoinflammatory diseases are rare inflammatory conditions whose immunopathology relies essentially on innate immunity. The majority of autoinflammatory diseases have their onset in childhood, but little is known about diseases that initiate in adulthood. Diagnosis is made by exclusion and with the aid of molecular techniques whenever possible. This article describes a case of autoinflammatory disease that started in adulthood, and aims to propose a flowchart to aid in the diagnosis of these conditions.


Subject(s)
Humans , Female , Adult , Familial Mediterranean Fever , Colchicine , Hereditary Autoinflammatory Diseases , Immunity, Innate , Therapeutics , Positron-Emission Tomography , Diagnosis
8.
An. bras. dermatol ; 91(5): 566-578, Sept.-Oct. 2016. tab, graf
Article in English | LILACS | ID: biblio-827764

ABSTRACT

Abstract: Inflammasomes are intracellular multiprotein complexes that comprise part of the innate immune response. Since their definition, inflammasome disorders have been linked to an increasing number of diseases. Autoinflammatory diseases refer to disorders in which local factors lead to the activation of innate immune cells, causing tissue damage when in the absence of autoantigens and autoantibodies. Skin symptoms include the main features of monogenic inflammasomopathies, such as Cryopyrin-Associated Periodic Syndromes (CAPS), Familial Mediterranean Fever (FMF), Schnitzler Syndrome, Hyper-IgD Syndrome (HIDS), PAPA Syndrome, and Deficiency of IL-1 Receptor Antagonist (DIRA). Concepts from other pathologies have also been reviewed in recent years, such as psoriasis, after the recognition of a combined contribution of innate and adaptive immunity in its pathogenesis. Inflammasomes are also involved in the response to various infections, malignancies, such as melanoma, autoimmune diseases, including vitiligo and lupus erythematosus, atopic and contact dermatitis, acne, hidradenitis suppurativa, among others. Inhibition of the inflammasome pathway may be a target for future therapies, as already occurs in the handling of CAPS, through the introduction of IL-1 inhibitors. This study presents a literature review focusing on the participation of inflammasomes in skin diseases.


Subject(s)
Humans , Skin Diseases/immunology , Hereditary Autoinflammatory Diseases/immunology , Inflammasomes/immunology , Immunity, Innate/immunology , Skin Diseases/pathology , Interleukin-1beta/immunology
9.
Medicina (B.Aires) ; 76(3): 166-172, June 2016. ilus
Article in Spanish | LILACS | ID: biblio-841565

ABSTRACT

Las enfermedades autoinflamatorias monogénicas son desórdenes raros que resultan en defectos del sistema inmune innato, originando excesiva respuesta a señales de peligro, activación espontánea de vías inflamatorias o pérdida de reguladores inhibitorios. En los últimos 15 años un creciente número de enfermedades inflamatorias monogénicas han sido descriptas y sus respectivos genes responsables identificados. Las proteínas codificadas por estos genes están involucradas en las vías regulatorias de la inflamación y están expresadas fundamentalmente en las células del sistema inmune innato. Si bien un grupo de pacientes exhibe inflamación sistémica episódica (fiebres periódicas), estos desórdenes están mediados por una continua sobreproducción y liberación de mediadores pro-inflamatorios -especialmente la interleucina 1beta- y su conceptualización como enfermedades autoinflamatorias es preferible por sobre la de fiebres periódicas. Las enfermedades más frecuentes son fiebre mediterránea familiar (FMF), TRAPS, deficiencia de mevalonatocinasa/síndrome de hiper IgD (MKD/HIDS) y los síndromes periódicos asociados a criopirina (CAPS). Sus características clínicas frecuentemente incluyen fiebre, erupciones cutáneas, compromiso de serosas y reactantes de fase aguda. Los autoanticuerpos están usualmente ausentes pero pueden observarse en ciertos síndromes. El diagnóstico es clínico y se basa en las características fenotípicas. El diagnóstico genético es muy importante pero debe ser realizado de manera juiciosa e interpretado con cautela. El tratamiento con agentes biológicos que bloquean citocinas pro-inflamatorias, particularmente IL-1, ha demostrado ser efectivo en muchos pacientes. Sin embargo, en otros tantos casos no se descubren anormalidades genéticas y el tratamiento es subóptimo, planteando la posibilidad de mutaciones patogénicas en genes y vías aún no explorados.


The monogenic autoinflammatory diseases are rare, genetic disorders resulting in constitutive innate immune defects leading to excessive response to danger signals, spontaneous activation of inflammatory mediators or loss of inhibitory regulators. During the past 15 years, a growing number of monogenic inflammatory diseases have been described and their respective responsible genes identified. The proteins encoded by these genes are involved in the regulatory pathways of inflammation and are mostly expressed in cells of the innate immune system. Although a group of patients exhibit episodic systemic inflammation (periodic fevers), these disorders are mediated by continuous overproduction and release of pro-inflammatory mediators, notably IL-1β, and are best considered as autoinflammatory diseases rather than periodic fevers. The most common autoinflammatory diseases are familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency/hyperimmunoglobulin D syndrome (MKD/HIDS) and the cryopyrin-associated periodic syndromes (CAPS). Clinical features often include fever, cutaneous rash, serosal involvement and acute phase reactants. Autoantibodies are usually absent but may accompany certain syndromes. Diagnosis remains clinical and is based on the different phenotypic features. Genetic diagnosis is of utmost importance, but must be performed judiciously and interpreted cautiously. Treatment with biologic agents that block proinflammatory cytokines, particularly IL-1, has proved to be dramatically effective in many patients. Still, in many cases of autoinflammation no genetic abnormalities are detected and treatment remains suboptimal, raising the question of novel pathogenic mutations in unexplored genes and pathways.


Subject(s)
Humans , Hereditary Autoinflammatory Diseases/immunology , Hereditary Autoinflammatory Diseases/pathology , Interleukin-6/immunology , Tumor Necrosis Factors/immunology , Interleukin-1beta/immunology , Hereditary Autoinflammatory Diseases/physiopathology , Hereditary Autoinflammatory Diseases/genetics , Fever/physiopathology , Fever/genetics , Fever/immunology , Fever/pathology , Mutation/immunology
11.
Article in French | AIM | ID: biblio-1264136

ABSTRACT

Les lombosciatalgies sont des pathologies fréquentes sous tous les cieux et souvent récidivantes.Objectif : Analyser les aspects épidémiologiques, cliniques et évolutifs des récidives des lombosciatalgies. Méthode : Étude rétrospective à visée descriptive et analytique, ayant porté sur 126 cas suivis dans le service de rééducation du CNHU de Cotonou, entre janvier 1998 et décembre 2008. Résultats : La fréquence a été de 11,02 % chez les non opérés et 8,17 % chez les opérés (p = 0,11). La récidive est survenue en moyenne à 2,01 ± 1,60 ans. L'atteinte a été bilatérale (47,6 %),unilatérale droite (30,2 %). La racine touchée a été L4 (7,1 %), L5 (62,7 %), S1 (13,5 %) ou double L5 et S1 (16,7 %). Ont été associés à la douleur, claudications intermittentes (61,9 %), paresthésies (33,3 %), déficit moteur (31,0 %), amyotrophie (10,3 %), perturbation des réflexes (38,1 %), troubles sensitifs (35,7 %) et positivité du Lasègue (47,6 %). L'évolution a été peu satisfaisante et a été conditionnée par le respect des conseils d'hygiène du dos. Conclusion : La non existence de différence statistiquement significative de récidive entre les lombosciatalgies opérées et non opérées incite à plus de rigueur dans les indications opératoires


Subject(s)
Benin , Hereditary Autoinflammatory Diseases , Sciatic Neuropathy
12.
Article in English | WPRIM | ID: wpr-133735

ABSTRACT

Autoinflammatory disease (AID) is a newly proposed category of disorders characterized by unprovoked episodes of inflammation without any infectious or autoimmune evidence. We aimed to characterize the clinical and genetic features of patients who had recurrent fever and multi-system inflammation but remain unclassified for any established AIDs. Medical records of 1,777 patients who visited our Rheumatology Clinic between March 2009 and December 2010 were reviewed to identify those who met the following criteria; 1) presence of fever, 2) inflammation in two or more organ systems, 3) recurrent nature of fever or inflammation, 4) no evidence of infection or malignancy, 5) absence of high titer autoantibodies, and 6) failure to satisfy any classification criteria for known AIDs. Genotyping was performed for common missense variants in MEFV, NOD2/CARD15, and TNFRSF1A. A small number of patients (17/1,777, 0.95%) were identified to meet the above criteria. Muco-cutaneous and musculoskeletal features were most common, but there was a considerable heterogeneity in symptom combination. Although they did not satisfy any established classification criteria for AIDs, substantial overlap was observed between the clinical spectrum of these patients and known AIDs. According to the newly proposed Eurofever criteria for periodic fevers, eleven of them were classified as TNF receptor-associated periodic syndrome and two as mevalonate kinase deficiency. However, no examined genetic variants including those in TNFRSF1A were found in these patients. A new set of classification criteria needs to be developed and validated for Asian patients with unclassified AIDs.


Subject(s)
Adolescent , Adult , Female , Humans , Male , Middle Aged , Young Adult , Cytoskeletal Proteins/genetics , Fever/etiology , Genotype , Hereditary Autoinflammatory Diseases/classification , Inflammation/etiology , Mutation, Missense , Nod2 Signaling Adaptor Protein/genetics , Polymorphism, Single Nucleotide , Receptors, Tumor Necrosis Factor, Type I/genetics , Recurrence , Republic of Korea , Retrospective Studies
13.
Article in English | WPRIM | ID: wpr-133734

ABSTRACT

Autoinflammatory disease (AID) is a newly proposed category of disorders characterized by unprovoked episodes of inflammation without any infectious or autoimmune evidence. We aimed to characterize the clinical and genetic features of patients who had recurrent fever and multi-system inflammation but remain unclassified for any established AIDs. Medical records of 1,777 patients who visited our Rheumatology Clinic between March 2009 and December 2010 were reviewed to identify those who met the following criteria; 1) presence of fever, 2) inflammation in two or more organ systems, 3) recurrent nature of fever or inflammation, 4) no evidence of infection or malignancy, 5) absence of high titer autoantibodies, and 6) failure to satisfy any classification criteria for known AIDs. Genotyping was performed for common missense variants in MEFV, NOD2/CARD15, and TNFRSF1A. A small number of patients (17/1,777, 0.95%) were identified to meet the above criteria. Muco-cutaneous and musculoskeletal features were most common, but there was a considerable heterogeneity in symptom combination. Although they did not satisfy any established classification criteria for AIDs, substantial overlap was observed between the clinical spectrum of these patients and known AIDs. According to the newly proposed Eurofever criteria for periodic fevers, eleven of them were classified as TNF receptor-associated periodic syndrome and two as mevalonate kinase deficiency. However, no examined genetic variants including those in TNFRSF1A were found in these patients. A new set of classification criteria needs to be developed and validated for Asian patients with unclassified AIDs.


Subject(s)
Adolescent , Adult , Female , Humans , Male , Middle Aged , Young Adult , Cytoskeletal Proteins/genetics , Fever/etiology , Genotype , Hereditary Autoinflammatory Diseases/classification , Inflammation/etiology , Mutation, Missense , Nod2 Signaling Adaptor Protein/genetics , Polymorphism, Single Nucleotide , Receptors, Tumor Necrosis Factor, Type I/genetics , Recurrence , Republic of Korea , Retrospective Studies
14.
Medical Principles and Practice. 2015; 24 (2): 195-197
in English | IMEMR | ID: emr-171512

ABSTRACT

The aim of this paper is to report the first case of drug-induced eosinophilic myocarditis [EM] in a patient with hereditary periodic fever syndrome [PFS]. Case: A 28-year-old man with hyper-IgD syndrome, one of the PFS, developed a sulfasalazine-induced systemic hypersensitivity reaction complicated by EM. Thirteen days after sulfasalazine introduction, which had been given for arthritis, the patient developed fever, facial/neck edema, rash and cardiogenic shock, and died within 8 h. The autopsy revealed hemophagocytosis, while acute heart failure caused by necrotizing EM was established as the cause of death. This was a case of drug-induced EM in a patient with PFS that had an atypical presentation, rapid evolution and poor outcome


Subject(s)
Humans , Male , Adult , Drug Hypersensitivity Syndrome , Eosinophilia , Sulfasalazine/adverse effects , Hereditary Autoinflammatory Diseases , Mevalonate Kinase Deficiency
15.
Gut and Liver ; : 497-499, 2013.
Article in English | WPRIM | ID: wpr-124619

ABSTRACT

Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by episodic fever and inflammatory polyserositis, which could lead to a variety of manifestations, including recurrent abdominal pain. Herein, a 12-year-old boy who has suffered from fever and bloody diarrhea since early childhood is described. All structural and underlying disorders leading to bleeding were excluded. Genetic studies indicated compound heterozygote mutations of M680I/R761H in the MEFV gene, which confirmed the diagnosis of FMF. Therefore, treatment with colchicine was started, which led to symptom relief. As gastrointestinal manifestations appear to be the main features of FMF, bloody diarrhea could also be considered an initial symptom of FMF.


Subject(s)
Humans , Abdominal Pain , Colchicine , Diarrhea , Familial Mediterranean Fever , Fever , Hemorrhage , Hereditary Autoinflammatory Diseases , Heterozygote
16.
Rev. Méd. Clín. Condes ; 23(4): 473-483, jul. 2012. tab, ilus
Article in Spanish | LILACS | ID: biblio-1145415

ABSTRACT

Las enfermedades autoinmunes son un grupo de enfermedades de relativo reciente conocimiento. Muchas de ellas están genéticamente determinadas (excepto el síndrome de PFAPA). Se caracterizan por episodios recurrentes de fiebre asociada a síntomas que generalmente pueden comprometer la piel, sistema músculo esquelético y gastrointestinal. A pesar de su baja prevalencia, el descubrimiento de los genes comprometidos en algunas de ella, ha permitido una mejor comprensión de los mecanismos de la respuesta inmune innata y en especial del rol de los llamados inflamosomas. Estos avances han permitido terapias más específicas, lo que ha llevado a disminuir en forma importante la morbilidad asociada, tanto a corto como a largo plazo. En el área pediátrica, el síndrome de PFAPA debe ser incluido como alternativa en el diagnóstico diferencial.


Autoimmune diseases are an emerging group of genetically determined diseases (except PFAPA) that affect innate immune system. They are characterized by recurrent episodes of fever associated with symptoms affecting skin, musculoskeletal and gastrointestinal system. Although unfrequent, the discovery of affected genes has allowed a better understanding of molecular mechanisms of innate immune response, specially about the role of inflammasomes. Subsequent targeted therapies have allowed a great improvement in short term and long term morbidity of most of these diseases. In children, PFAPA must be included in the analysis of differential diagnosis.


Subject(s)
Humans , Child , Hereditary Autoinflammatory Diseases/diagnosis , Hereditary Autoinflammatory Diseases/drug therapy , Autoimmune Diseases/diagnosis , Biomarkers , International Classification of Diseases , Hereditary Autoinflammatory Diseases/physiopathology , Hereditary Autoinflammatory Diseases/epidemiology , Cryopyrin-Associated Periodic Syndromes , Fever , Granulomatous Disease, Chronic/diagnosis
17.
Annals of Saudi Medicine. 2012; 32 (1): 43-48
in English | IMEMR | ID: emr-143967

ABSTRACT

Published data from Saudi Arabia regarding autoinflammatory diseases are scarce. In this study, we describe the clinical and laboratory features of autoinflammatory diseases in Saudi children. Restrospective, hospital-based study conducted from January 2010 until June 2010.Patients with autoinflammatory disease treated at the Pediatric Rheumatology Clinic at King Faisal Specialist Hospital and Research Center, Riyadh, over the past 10 years were included. Autoinflammatory diseases included the following: familial Mediterranean fever [FMF]; chronic recurrent multifocal osteomyelitis [CRMO]; early-onset sarcoidosis [EOS]; periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome [PFAPA]; chronic infantile neurologic cutaneous and articular syndrome [CINCA]; and Muckle-Wells syndrome [MWS]. Demographic characteristics, diagnosis, age at onset, disease duration, follow-up duration, clinical and laboratory variables, and outcome data were compiled. Gathered laboratory data were part of patients usual medical care. Thirty-four patients [females, 53%] with autoinflammatory diseases were included [mean age, 151 months]. Mean disease duration was 118 months; mean age at onset was 32 months; consanguinity was present in 40%. Patients were diagnosed as follows: FMF, 50%; CRMO, 23.5%; CINCA, 8.8%; EOS, 8.8%; MWS, 6%; and PFAPA, 2.9%. The referral diagnosis was inaccurate in all patients except for FMF patients. Gene study was informative in 9 of 14 FMF patients who had molecular analyses. None of our cohort had amyloidosis. All CRMO patients had a favorable response to treatment except 1 patient, who had refractory, progressive disease. All patients with EOS had multiorgan involvement, including uveitis. All CINCA patients had a favorable response to anakinra. Our report shows that autoinflammatory diseases other than FMF may be overlooked. Increased awareness among pediatricians about these conditions will help to provide better health care to patients in the form of early diagnosis and management


Subject(s)
Humans , Male , Female , Familial Mediterranean Fever/epidemiology , Child , Hereditary Autoinflammatory Diseases/diagnosis
18.
Egyptian Journal of Medical Human Genetics [The]. 2011; 12 (2): 117-125
in English | IMEMR | ID: emr-126705

ABSTRACT

Hereditary periodic fever syndromes, comprise a group of hereditary disorders with similar clinical features of recurrent short episodes of fever associated with inflammatory manifestations. These are usually self-limited in nature and occur in the absence of infection or autoimmune reaction. Between attacks, patients feel well and regain their normal daily functions until the next episode occurs. The episodes are usually associated with elevated serum levels of acute-phase reactants [e.g., fibrinogen, serum amyloid A [SAA]], an elevated erythrocyte sedimentation rate [ESR], and leukocytosis. These illnesses represent inborn errors in the regulation of innate immunity thus substantiating the distinction from autoimmune disorders, which more directly affect the adaptive immune system. Each of these disorders has a distinct genetic defect. Most of these proteins are members of the Death Domain Superfamily and are involved in inflammation and apoptosis. These proteins mediate the regulation of nuclear factor-kB [NF-kB], cell apoptosis, and interleukin 1beta [IL-1beta] secretion through cross-regulated and common signaling pathways. Six periodic fever syndromes have been characterized. Genetic defects, pathogenesis, epidemiology and management of these fevers will be discussed


Subject(s)
Hereditary Autoinflammatory Diseases/classification , Disease Management , Review Literature as Topic , Chromosome Aberrations
19.
J. pediatr. (Rio J.) ; 86(5): 353-366, out. 2010.
Article in Portuguese | LILACS | ID: lil-564218

ABSTRACT

OBJETIVO: Descrever as principais síndromes autoinflamatórias hereditárias na faixa etária pediátrica. FONTES DOS DADOS: Foi realizada uma revisão da literatura nas bases de dados PubMed e SciELO, utilizando as palavras-chave "síndromes autoinflamatórias” e "criança”, e incluindo referências bibliográficas relevantes. SÍNTESE DOS DADOS: As principais síndromes autoinflamatórias são causadas por defeitos monogênicos em proteínas da imunidade inata, sendo consideradas imunodeficiências primárias. Elas são caracterizadas clinicamente por sintomas inflamatórios sistêmicos recorrentes ou contínuos e devem ser diferenciadas das doenças infecciosas, autoimunes e outras imunodeficiências primárias. Nesta revisão, foram enfatizadas características epidemiológicas, manifestações clínicas, alterações laboratoriais, prognóstico e terapia das principais síndromes autoinflamatórias: febre familiar do Mediterrâneo; síndrome periódica associada ao receptor de fator de necrose tumoral; criopirinopatias; deficiência de mevalonato-quinase; artrite granulomatosa pediátrica; síndrome de pioderma gangrenoso, artrite piogênica e acne; síndrome de Majeed; e deficiência do antagonista do receptor de interleucina-1. As criopirinopatias discutidas foram: doença inflamatória multissistêmica de início neonatal ou síndrome neurológica, cutânea e articular crônica infantil, síndrome de Muckle-Wells e síndrome autoinflamatória familiar associada ao frio. CONCLUSÕES: É importante que o pediatra reconheça as síndromes autoinflamatórias hereditárias mais prevalentes, pois o encaminhamento ao reumatologista pediátrico pode permitir um diagnóstico precoce e uma instituição de tratamento adequado, possibilitando uma melhora da qualidade de vida dos pacientes.


OBJECTIVE: To describe the most prevalent pediatric hereditary autoinflammatory syndromes. SOURCES: A review of the literature including relevant references from the PubMed and SciELO was carried out using the keywords autoinflammatory syndromes and child. SUMMARY OF THE FINDINGS: The hereditary autoinflammatory syndromes are caused by monogenic defects of innate immunity and are classified as primary immunodeficiencies. These syndromes are characterized by recurrent or persistent systemic inflammatory symptoms and must be distinguished from infectious diseases, autoimmune diseases, and other primary immunodeficiencies. This review describes the epidemiological, clinical and laboratory features, prognosis, and treatment of the main autoinflammatory syndromes, namely: familial Mediterranean fever; TNF receptor associated periodic syndrome; the cryopyrinopathies; mevalonate kinase deficiency; pediatric granulomatous arthritis; pyogenic arthritis, pyoderma gangrenosum and acne syndrome; Majeed syndrome; and deficiency of interleukin 1 receptor antagonist. The cryopyrinopathies discussed include neonatal-onset multisystem inflammatory disease (also known as chronic infantile neurologic, cutaneous and articular syndrome) Muckle-Wells syndrome, and familial cold autoinflammatory syndrome. CONCLUSIONS: Pediatricians must recognize the clinical features of the most prevalent autoinflammatory syndromes. Early referral to a pediatric rheumatologist may allow early diagnosis and institution of treatment, with improvement in the quality of life of these patients.


Subject(s)
Child , Humans , Hereditary Autoinflammatory Diseases , Hereditary Autoinflammatory Diseases/diagnosis , Hereditary Autoinflammatory Diseases/epidemiology , Hereditary Autoinflammatory Diseases/genetics , Hereditary Autoinflammatory Diseases/therapy , Syndrome
20.
Rev. colomb. reumatol ; 17(2): 86-95, Apr.-June 2010. ilus, tab
Article in Spanish | LILACS | ID: lil-636825

ABSTRACT

Presentamos un artículo de revisión sobre las enfermedades autoinflamatorias, narrando su origen histórico y describiendo la estructura proteica y molecular del Inflamosoma, la clasificación actual de los trastornos autoinflamatorios y una descripción de las características inmunogenéticas y clínicas más sobresalientes de cada enfermedad.


We present a review article on the autoinflammatory diseases, narrating its historical origin and describing the protein and molecular structure of the Inflammasome, the current classification of the autoinflammatory diseases and a description of the immunogenetics and clinical characteristics more important of every disease.


Subject(s)
Humans , Molecular Structure , Protein Structural Elements , Classification , Hereditary Autoinflammatory Diseases , Cryopyrin-Associated Periodic Syndromes , Inflammasomes , Immunogenetics
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