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Autoinflammatory disease in children

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https://www.readbyqxmd.com/read/29652766/-chronic-recurrent-multifocal-osteomyelitis-of-the-mandible-a-diagnostic-challenge
#1
Liliana Camison, Rick S Mai, Jesse A Goldstein, Bernard J Costello, Kathryn S Torok, Joseph E Losee
Chronic recurrent multifocal osteomyelitis (CRMO) is a rare autoinflammatory bone disorder of children and adolescents characterized by mono- or multi-focal inflammatory bone lesions that are culture-negative on biopsy, associated with periods of exacerbation and resolution that can last over several months to years. Although it is predominantly a disease of long bones and the spine, craniofacial involvement is not uncommon, affecting the mandible in up to a fifth of cases. Similarities with other etiologies of osteitis in clinical presentation and imaging, as well as the lack of specific symptoms or laboratory tests, make CRMO mainly a diagnosis of exclusion...
March 28, 2018: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29622022/il-6-blockade-in-systemic-juvenile-idiopathic-arthritis-achievement-of-inactive-disease-and-remission-data-from-the-german-aid-registry
#2
M Bielak, E Husmann, N Weyandt, J-P Haas, B Hügle, G Horneff, U Neudorf, T Lutz, E Lilienthal, T Kallinich, K Tenbrock, R Berendes, T Niehues, H Wittkowski, E Weißbarth-Riedel, G Heubner, P Oommen, J Klotsche, Dirk Foell, E Lainka
BACKGROUND: Systemic juvenile idiopathic arthritis (sJIA) is a complex disease with an autoinflammatory component of unknown etiology related to the innate immune system. A major role in the pathogenesis has been ascribed to proinflammatory cytokines like interleukin-6 (IL-6), and effective drugs inhibiting their signaling are being developed. This study evaluates sJIA patients treated with the IL-6 inhibitor tocilizumab (TCZ) concerning clinical response rate, disease course and adverse effects in a real-life clinical setting...
April 5, 2018: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/29610179/inherited-immunodeficiency-a-new-association-with-early-onset-childhood-panniculitis
#3
Brigitte Bader-Meunier, Frédéric Rieux-Laucat, Fabien Touzot, Marie-Louise Frémond, Isabelle André-Schmutz, Sylvie Fraitag, Christine Bodemer
We report on 4 children who presented with aseptic panniculitis associated with inherited immunodeficiency. Three patients had a B-cell immunodeficiency resulting from mutations in the TRNT1 and NF-κb2 genes (no mutation was found in the third patient), and 1 had a T-cell deficiency (mutation in the LCK gene). Panniculitis occurred before the age of 2 years in the 4 patients and preceded the onset of recurrent infections because of immunodeficiency in 2. It presented either as nodules, which resolved spontaneously within 1 to 2 weeks (3 patients), or chronic ulcerative lesions (1 patient) associated with unexplained fever and elevated acute phase reactants, without evidence of infection or high-titer autoantibodies...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29574969/neutrophilic-urticarial-dermatosis-as-a-presenting-feature-of-systemic-juvenile-idiopathic-arthritis
#4
Thomas Stringer, Julia Gittler, Shane Meehan, Philip Kahn, Vikash S Oza
This report describes a case of chronic neutrophilic urticarial dermatosis as a presenting feature of systemic juvenile idiopathic arthritis. When encountered in children, neutrophilic urticarial dermatosis should raise suspicion of autoimmune or autoinflammatory disease.
March 25, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29500522/multigene-sequencing-reveals-heterogeneity-of-nlrp12-related-autoinflammatory-disorders
#5
Mikhail M Kostik, Evgeny N Suspitsin, Marina N Guseva, Anastasia S Levina, Anastasia Y Kazantseva, Anna P Sokolenko, Evgeny N Imyanitov
NLRP12-related autoinflammatory disease (NLRP12-AID) is an exceptionally rare autosomal dominant disorder caused by germline mutations in NLRP12 gene. Very few patients with NLRP12-AD have been identified worldwide; therefore, there is a scarcity of data on phenotypic presentation of this syndrome. Here we provide evidence that NLRP12-AID may have clinical manifestations characteristic for primary immune deficiencies (PID). 246 children with periodic fever (PF) of unknown origin were subjects to the next generation sequencing (NGS) analysis; 213 of these patients had signs of primary immunodeficiency (PID) manifested by recurrent infections, while 33 kids had isolated PF...
March 2, 2018: Rheumatology International
https://www.readbyqxmd.com/read/29287595/dealing-with-chronic-non-bacterial-osteomyelitis-a-practical-approach
#6
REVIEW
Andrea Taddio, Giovanna Ferrara, Antonella Insalaco, Manuela Pardeo, Massimo Gregori, Martina Finetti, Serena Pastore, Alberto Tommasini, Alessandro Ventura, Marco Gattorno
BACKGROUND: Chronic Non-Bacterial Osteomyelitis (CNO) is an inflammatory disorder that primarily affects children. Although underestimated, its incidence is rare. For these reasons, no diagnostic and no therapeutic guidelines exist. The manuscript wants to give some suggestions on how to deal with these patients in the every-day clinical practice. MAIN BODY: CNO is characterized by insidious onset of bone pain with local swelling. Systemic symptoms such as fever, skin involvement and arthritis may be sometimes present...
December 29, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/29247329/understanding-childhood-diabetes-mellitus-new-pathophysiological-aspects
#7
REVIEW
Juergen Grulich-Henn, Daniela Klose
Diabetes mellitus (DM) is not a single disease, but several pathophysiological conditions where synthesis, release, and/or action of insulin are disturbed. A progressive autoimmune/autoinflammatory destruction of islet cells is still considered the main pathophysiological event in the development of T1DM, but there is evidence that T1DM itself is a heterogeneous disease. More than 50 gene regions are closely associated with T1DM and a variety of epigenetic factors and metabolic patterns have been characterized, which may play a role in the development of T1DM...
January 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29239128/efficacy-of-anakinra-in-a-patient-with-systemic-amyloidosis-presenting-as-amyloidoma
#8
Hulya Nalcacioglu, Ozan Ozkaya, Gurkan Genc, Suat Ayyildiz, Mehmet Kefeli, Murat Elli, Oguz Aydin, Meltem Ceyhan Bilgici
Amyloidosis is a heterogeneous group of disorders characterized by extracellular deposition of unique protein fibrils. The least common presentation of an amyloid deposition is as a discrete mass called amyloidoma or amyloid tumor. We report a case of a soft tissue amyloidoma in the abdomen of a 16-year-old girl who was diagnosed as having systemic amyloidosis. A girl aged 16 years was referred to our hospital with a pre-diagnosis of a retroperitoneal mass documented with abdominal ultrasonography and tomography...
February 2018: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29229448/characteristics-and-disease-course-in-a-cohort-of-children-with-pfapa-syndrome-in-the-community-of-madrid-spain
#9
María de Las Mercedes Ibáñez Alcalde, Laura Caldevilla Asenjo, Cristina Calvo Rey, Fernando García-Mon Marañés, Daniel Blázquez Gamero, Jesús Saavedra Lozano, María Luisa Navarro Gómez, Teresa Hernández-Sampelayo Matos, Mar Santos Sebastián
INTRODUCTION: PFAPA syndrome is an autoinflammatory disease whose diagnosis is mainly clinical. Several treatments have been proposed; among them, tonsillectomy could be an effective one. MATERIAL AND METHODS: Retrospective multicenter study. Patients included were diagnosed with PFAPA syndrome, according to the Thomas criteria, in 3 hospitals in Madrid between 2009-2013. RESULTS: Thirty-two cases were included. Median age at onset and at diagnosis were 32 months (IQR 24-44) and 47...
December 8, 2017: Reumatología Clinica
https://www.readbyqxmd.com/read/29198619/new-mosaic-tiles-in-childhood-hereditary-autoinflammatory-disorders
#10
REVIEW
Donato Rigante
The protean clinical phenotypes of hereditary autoinflammatory disorders (HAID) are caused by abnormal activation of innate immunity and consist of seemingly unprovoked inflammatory flares localized to multiple organs, such as the skin, joints, serosal membranes, gut, and central nervous system. Different mutations in genes implied in activation of the interleukin-1 (IL-1)-structured inflammasome, cytoskeletal signaling and apoptosis contribute to the pathogenesis of different HAID, which mostly start in childhood with self-limited flares unrelated to infectious agents, autoantibody production or autoreactive cells...
January 2018: Immunology Letters
https://www.readbyqxmd.com/read/29122972/eating-disorders-autoimmune-and-autoinflammatory-disease
#11
Stephanie Zerwas, Janne Tidselbak Larsen, Liselotte Petersen, Laura M Thornton, Michela Quaranta, Susanne Vinkel Koch, David Pisetsky, Preben Bo Mortensen, Cynthia M Bulik
OBJECTIVES: Identifying factors associated with risk for eating disorders is important for clarifying etiology and for enhancing early detection of eating disorders in primary care. We hypothesized that autoimmune and autoinflammatory diseases would be associated with eating disorders in children and adolescents and that family history of these illnesses would be associated with eating disorders in probands. METHODS: In this large, nationwide, population-based cohort study of all children and adolescents born in Denmark between 1989 and 2006 and managed until 2012, Danish medical registers captured all inpatient and outpatient diagnoses of eating disorders and autoimmune and autoinflammatory diseases...
December 2017: Pediatrics
https://www.readbyqxmd.com/read/29079714/tocilizumab-for-the-treatment-of-slc29a3-mutation-positive-phid-syndrome
#12
Nadia K Rafiq, Khalid Hussain, Paul A Brogan
Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) is associated with recessive mutations in SLC29A3 , encoding the equilibrative nucleoside transporter hENT3 expressed in mitochondria, causing PHID and H syndromes, familial Rosai-Dorfman disease, and histiocytosis-lymphadenopathy-plus syndrome. Autoinflammation is increasingly recognized in these syndromes. We previously reported a 16-year-old girl with PHID syndrome associated with severe autoinflammation that was recalcitrant to interleukin-1 and tumor necrosis factor-α blockade...
November 2017: Pediatrics
https://www.readbyqxmd.com/read/29027576/neonatal-ulcerative-colitis-associated-with-familial-mediterranean-fever-a-case-report
#13
Elif Sag, Ferhat Demir, Mustafa Emre Ercin, Mukaddes Kalyoncu, Murat Cakir
Neonatal inflammatory bowel disease (IBD) is a subclass of very early onset IBD that includes children younger than 1 month. It is characterized by more colonic involvement and monogenetic etiology, resistance to classical anti-inflammatory/immunomodulatory treatments and associated with colitis in first-degree family members. Herein we report a 3 month-old girl who was admitted with bloody diarrhea since 10 days of age. Her symptoms persist despite diet elimination. She was diagnosed with neonatal ulcerative colitis (UC) based on clinical, laboratory and histopathological examination...
January 2018: Rheumatology International
https://www.readbyqxmd.com/read/29025800/approach-to-recurrent-fever-in-childhood
#14
REVIEW
Gordon S Soon, Ronald M Laxer
OBJECTIVE: To provide an approach to recurrent fever in childhood, explain when infections, malignancies, and immunodeficiencies can be excluded, and describe the features of periodic fever and other autoinflammatory syndromes. SOURCES OF INFORMATION: PubMed was searched for relevant articles regarding the pathogenesis, clinical findings, diagnosis, prognosis, and treatment of periodic fever and autoinflammatory syndromes. MAIN MESSAGE: Fever is a common sign of illness in children and is most frequently due to infection...
October 2017: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/28983775/deficiency-of-adenosine-deaminase-2-dada2-an-inherited-cause-of-polyarteritis-nodosa-and-a-mimic-of-other-systemic-rheumatologic-disorders
#15
REVIEW
Hasan Hashem, Susan J Kelly, Nancy J Ganson, Michael S Hershfield
PURPOSE OF REVIEW: A new autoinflammatory disease, deficiency of adenosine deaminase 2 (DADA2), caused by mutations in the CECR1 gene, was first reported in 2014. This review aims to update progress in defining, treating, and understanding this multi-faceted disorder. RECENT FINDINGS: DADA2 was first described in patients with systemic inflammation, mild immune deficiency, and vasculopathy manifested as recurrent stroke or polyarteritis nodosa (PAN). More than 125 patients have now been reported, and the phenotype has expanded to include children and adults presenting primarily with pure red cell aplasia (PRCA), or with antibody deficiency...
October 5, 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28900629/siae-rare-variants-in-juvenile-idiopathic-arthritis-and-primary-antibody-deficiencies
#16
Eirini Sevdali, Elena Tsitsami, Maria Tsinti, Evangelia Farmaki, Efimia Papadopoulou-Alataki, Anastasios E Germenis, Matthaios Speletas
Sialic acid acetylesterase (SIAE) deficiency was suggested to lower the levels of ligands for sialic acid-binding immunoglobulin-like receptors, decreasing the threshold for B-cell activation. In humans, studies of rare heterozygous loss-of-function mutations in SIAE gene in common autoimmune diseases, including juvenile idiopathic arthritis (JIA), yielded inconsistent results. Considering the distinct pathogenesis of the two main subtypes of JIA, autoinflammatory systemic (sJIA) and autoimmune oligo/polyarticular (aJIA), and a predisposition to autoimmunity displayed by patients and families with primary antibody deficiencies (PADs), the aim of our study was to analyze whether SIAE rare variants are associated with both the phenotype of JIA and the autoimmunity risk in families with PADs...
2017: Journal of Immunology Research
https://www.readbyqxmd.com/read/28814674/rilonacept-maintains-long-term-inflammatory-remission-in-patients-with-deficiency-of-the-il-1-receptor-antagonist
#17
Megha Garg, Adriana A de Jesus, Dawn Chapelle, Paul Dancey, Ronit Herzog, Rafael Rivas-Chacon, Theresa L Wampler Muskardin, Ann Reed, James C Reynolds, Raphaela Goldbach-Mansky, Gina A Montealegre Sanchez
BACKGROUND: Deficiency of IL-1 receptor antagonist (DIRA) is a rare autoinflammatory disease that presents with life-threatening systemic inflammation, aseptic multifocal osteomyelitis, and pustulosis responsive to IL-1-blocking treatment. This study was performed (a) to investigate rilonacept, a long-acting IL-1 inhibitor, in maintaining anakinra-induced inflammatory remission in DIRA patients, (b) to determine doses needed to maintain remission, and (c) to evaluate the safety and pharmacokinetics of rilonacept in young children (<12 years)...
August 17, 2017: JCI Insight
https://www.readbyqxmd.com/read/28693592/bone-metabolism-and-inflammatory-characteristics-in-14-cases-of-chronic-nonbacterial-osteomyelitis
#18
Yurika Ata, Yutaka Inaba, Hyonmin Choe, Naomi Kobayashi, Jiro Machida, Naoyuki Nakamura, Tomoyuki Saito
BACKGROUND: Chronic nonbacterial osteomyelitis (CNO) is a multifocal autoinflammatory disease that often impairs daily life in children. This study aimed to investigate the bone metabolic and inflammatory characteristics of patients with CNO, and to assess the differences between responders and nonresponders to conservative treatment. METHODS: We investigated the clinical symptoms; laboratory data including inflammatory and bone metabolic biomarkers; and imaging findings from plain radiography, magnetic resonance imaging (MRI), fluorodeoxyglucose-positron emission tomography (FDG-PET), and dual-energy x-ray absorption (DEXA) in 14 patients with CNO...
July 11, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28690860/the-detection-of-a-novel-insertion-mutation-in-exon-2-of-the-mefv-gene-associated-with-familial-mediterranean-fever-in-a-moroccan-family
#19
Touhami Mejtoute, Hanane Sayel, Jamila El-Akhal, Fatima Z Moufid, Laila Bouguenouch, Ihssane El Bouchikhi, Mustapha Hida, Driss Couissi, Karim Ouldim
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease that is inherited in an autosomal recessive manner and is caused by mutations in the MEFV gene. As the name indicates, FMF occurs within families and is more common in individuals of Mediterranean descent than in persons of any other ethnicity. To date, 314 mutations have been reported. We studied a Moroccan family with a total of five members, including a mother who was presenting with symptoms of FMF, while her four children remained asymptomatic...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28585601/canakinumab-treatment-in-four-children-with-colchicine-resistant-familial-mediterranean-fever
#20
Solmaz Ozkan, Bulent Atas
Familial Mediterranean Fever (FMF) is an autosomal recessive and autoinflammatory disease, characterized with inflammation of serous membranes such as peritoneum, pleura, synovium with fever and pain. Colchicine is the main treatment of FMF, but 5-10 % of patients are unresponsive to colchicine. We report using anti-interleukin-1 agents anakinra and canakinumab in four colchicine-resistant patients who were successfully treated. Three of the patients were siblings.
June 2017: JPMA. the Journal of the Pakistan Medical Association
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