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https://www.readbyqxmd.com/read/28440359/ultrasonographic-findings-in-hyperimmunoglobulin-d-syndrome-a-case-report
#1
Laura Otilia Damian, Otilia Fufezan, Mihaela Farcău, Simona Tătar, Călin Lazăr, Dorin-Ioan Farcău
Hyperimmunoglobulin D syndrome due to mevalonate kinase deficiency is a rare autoinflammatory disease with digestive tract involvement. We report an 11-year female child who has presented since the age of 1 year, bouts of fever, rash, joint swelling, pulmonary consolidation, lymph node involvement and hepatosplenomegaly. Hyperimmunglobulin D and increased urinary mevalonic acid were detected. The ultrasonographic features of hepatosplenomegaly ranged from increment in size to pseudotumoral involvement, with hypoechogenic masses without apparent wall...
April 22, 2017: Medical Ultrasonography
https://www.readbyqxmd.com/read/28438265/autoinflammatory-diseases-in-pediatric-dermatology-part-2-histiocytic-macrophage-activation-and-vasculitis-syndromes
#2
S Hernández-Ostiz, G Xirotagaros, L Prieto-Torres, L Noguera-Morel, A Torrelo
The discovery of new autoinflammatory syndromes and novel mutations has advanced at breakneck speed in recent years. Part 2 of this review focuses on vasculitis syndromes and the group of histiocytic and macrophage activation syndromes. We also include a table showing the mutations associated with these autoinflammatory syndromes and treatment alternatives.
April 21, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28427379/novel-mutation-identified-in-severe-early-onset-tumor-necrosis-factor-receptor-associated-periodic-syndrome-a-case-report
#3
Suhas M Radhakrishna, Amy Grimm, Lori Broderick
BACKGROUND: Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) is the second most common heritable autoinflammatory disease, typically presenting in pre-school aged children with fever episodes lasting 1-3 weeks. Systemic symptoms can include rash, myalgia, ocular inflammation, and serositis. CASE PRESENTATION: Here we report an unusual presentation of TRAPS in a 7 month old girl who presented with only persistent fever. She was initially diagnosed with incomplete Kawasaki Disease and received IVIG and infliximab; however, her fevers quickly recurred...
April 20, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28413100/colchicine-resistance-and-intolerance-in-familial-mediterranean-fever-definition-causes-and-alternative-treatments
#4
REVIEW
Seza Ozen, Isabelle Kone-Paut, Ahmet Gül
BACKGROUND: Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory syndrome characterized by recurrent serositis or arthritis attacks and, in some patients, chronic subclinical inflammation that predisposes to secondary amyloidosis. Colchicine is the gold standard of treatment, which reduces attack frequency and amyloidosis risk. However, up to 5% of patients are considered resistant or inadequately respond to colchicine, and some others cannot tolerate the side effects of effective doses of colchicine (colchicine intolerant)...
March 20, 2017: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/28403691/novel-nlrc4-mutation-causes-a-syndrome-of-perinatal-autoinflammation-with-hemophagocytic-lymphohistiocytosis-hepatosplenomegaly-fetal-thrombotic-vasculopathy-and-congenital-anemia-and-ascites
#5
Jiancong Liang, Danielle N Alfano, James E Squires, Melissa M Riley, W Tony Parks, Julia Kofler, Areeg El-Gharbawy, Suneeta Madan-Kheterpal, Roxanne Acquaro, Jennifer Picarsic
Autoinflammatory diseases are caused by pathologic activation of the innate immune system. Primary hemophagocytic lymphohistiocytosis (HLH) is an aggressive syndrome of excessive immune activation caused by monogenic mutations resulting in cytotoxic cell defects and subsequent failure to eliminate activated macrophages. Secondary HLH is often diagnosed in cases without a known Mendelian inheritance. However, some cases of "secondary" HLH have been shown to harbor mutations with partial dysfunction of the cytotoxic system...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28396659/disease-phenotype-and-outcome-depending-on-the-age-at-disease-onset-in-patients-carrying-the-r92q-low-penetrance-variant-in-tnfrsf1a-gene
#6
Estíbaliz Ruiz-Ortiz, Estíbaliz Iglesias, Alessandra Soriano, Segundo Buján-Rivas, Marta Español-Rego, Raul Castellanos-Moreira, Adrià Tomé, Jordi Yagüe, Jordi Antón, José Hernández-Rodríguez
BACKGROUND: Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal-dominant autoinflammatory disease caused by mutations in the TNFRSF1A gene. R92Q, a low-penetrance variant, is usually associated with a milder TRAPS phenotype than structural or pathogenic mutations. No studies differentiating R92Q-related disease in patients with pediatric and adult onset have been performed to date. OBJECTIVE: To analyze clinical features and disease outcomes in patients diagnosed with TRAPS associated with R92Q variant and to investigate differences between patients with pediatric and adult disease onset...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28387826/clinical-update-on-inflammasomopathies
#7
Hafize Emine Sönmez, Seza Özen
Inflammasomes are important elements of the innate immune defense. The most common autoinflammatory syndromes, as well a number of rare ones, are due to hereditary defects in the inflammasomes, hence are called inflammasomopathies. The recent clinical advances in these diseases will be reviewed, with special emphasis on reflecting the international collaborative work in the field. Recent recommendations for familial Mediterranean fever (FMF), cryopyrin-associated periodic syndromes (CAPS) and hyper-IgD syndrome (HIDS) / mevalonate kinase deficiency (MKD) will be presented and diagnostics tests, treatment alternatives, and follow-up recommendations will be summarized...
April 6, 2017: International Immunology
https://www.readbyqxmd.com/read/28382039/genetic-and-epigenetic-determinants-in-autoinflammatory-diseases
#8
REVIEW
Damiana Álvarez-Errico, Roser Vento-Tormo, Esteban Ballestar
The concept of autoinflammation has evolved over the past 20 years, beginning with the discovery that mutations in the Mediterranean Fever (MEFV) gene were causative of Familial Mediterranean Fever. Currently, autoinflammatory diseases comprise a wide range of disorders with the common features of recurrent fever attacks, prevalence of hyperreactive innate immune cells, and signs of inflammation that can be systemic or organ specific in the absence of pathogenic infection of autoimmunity. Innate immune cells from the myeloid compartment are the main effectors of uncontrolled inflammation that is caused in great extent by the overproduction of inflammatory cytokines such as IL-1β and IL-18...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28381287/munchausen-by-proxy-syndrome-mimicking-systemic-autoinflammatory-disease-case-report-and-review-of-the-literature
#9
Helmut Wittkowski, Claas Hinze, Sigrid Häfner-Harms, Vinzenz Oji, Katja Masjosthusmann, Martina Monninger, Ulrike Grenzebach, Dirk Foell
BACKGROUND: Systemic autoinflammatory diseases (SAIDs) represent a growing number of monogenic, polygenic or multifactorial disorders that are often difficult to diagnose. CASE PRESENTATION: Here we report a patient who was initially erroneously diagnosed and treated for SAID. Symptoms consisted of recurrent fever, erythematous and/or blistering skin lesions, angioedema, susceptibility to bleeding, external ear infections and reversible anisocoria in the absence of laboratory evidence of systemic inflammation...
April 5, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28362189/canakinumab-for-the-treatment-of-familial-mediterranean-fever
#10
Huri Ozdogan, Serdal Ugurlu
Familial Mediterranean fever (FMF) is the most frequent of all hereditary autoinflammatory syndromes. It is characterized by recurrent attacks of fever and serositis. If not treated it may be complicated with AA amyloidosis. It is caused by mutations in the MEFV gene that encodes pyrin which is involved in the regulation of IL-1β. The mainstay of treatment is colchicine, however a subset of patients requires an alternative treatment either due to inadequate response or intolerance. The accumulating data indicates that anti IL-1 drugs are effective in treating colchicine resistant FMF cases and improving their quality of life...
April 10, 2017: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/28361334/chronic-recurrent-multifocal-osteomyelitis-and-related-diseases-update-on-pathogenesis
#11
REVIEW
Allison J Cox, Yongdong Zhao, Polly J Ferguson
PURPOSE OF REVIEW: We focus on recent advances in the understanding of the genetic, molecular, immunologic, and environmental factors implicated in the pathogenesis of autoinflammatory bone diseases including the syndromic and non-syndromic forms of chronic recurrent multifocal osteomyelitis (CRMO). RECENT FINDINGS: Evidence implicating the IL-1 pathway in the pathogenesis of the Mendelian forms of CRMO is growing. LIPIN2 can regulate the NLRP3 inflammasome by affecting P2X7 receptor activation, and intracellular cholesterol can modulate P2X7R currents...
April 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28361096/clinical-dose-effect-and-functional-consequences-of-r92q-in-two-families-presenting-with-a-traps-pfapa-like-phenotype
#12
Sylvie Grandemange, Sébastien Cabasson, Guillaume Sarrabay, Jérôme Pène, Cécile Rittore, Elodie Sanchez, Marie-Caroline Chastang, Gaël Guyon, Pascal Pillet, Isabelle Touitou
BACKGROUND: TNF receptor-associated syndrome (TRAPS) is a dominantly inherited autoinflammatory condition caused by mutations in the TNFRSF1A gene. The mechanism underlying the variable expressivity of the common variant R92Q (rs4149584; c.362G>A; p.Arg121Gln) is unclear and is of critical importance for patient care and genetic counseling. This study evaluated the impact of the number of R92Q mutations in two unique unrelated families. METHODS: Two patients with undefined but clear autoinflammatory symptoms were referred for genetic diagnosis...
March 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28345207/autoinflammatory-syndromes-associated-with-hidradenitis-suppurativa-and-or-acne
#13
REVIEW
Caroline Vinkel, Simon F Thomsen
Autoinflammatory syndromes associated with hidradenitis suppurativa (HS) and/or acne are rare but potentially debilitating disorders if not diagnosed and treated correctly. They share a common pathogenesis involving a dysregulated innate immune system with abnormal interleukin (IL)-1 signaling leading to sterile neutrophilic inflammation. The clinical features are recurrent episodes of fever, painful arthritis, and skin lesions consistent with HS, acne, and pyoderma gangrenosum (PG) accompanied by elevated systemic inflammatory markers in blood...
March 27, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28343210/periodic-fever-aphthous-stomatitis-pharyngitis-and-cervical-adenitis-pfapa-syndrome-in-children
#14
Vira B Semianchuk
INTRODUCTION: Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome refers to a group of primary immunodeficiencies, namely autoinflammatory diseases. Most pediatricians and otolaryngologists do not suspect PFAPA syndrome when treating recurrent pharyngitis (according to Ukrainian classification - tonsillitis) and stomatitis. Therefore, patients with a given syndrome receive unnecessary treatment (antibiotic therapy or antiviral drugs) and the diagnosis is made late...
2017: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28342280/clinical-and-histopathological-features-of-cutaneous-manifestations-of-adult-onset-still-disease
#15
Erin Santa, Jeanne M McFalls, Joya Sahu, Jason B Lee
Adult-onset Still disease (AOSD) is a rare autoinflammatory syndrome characterized by recurring fevers, arthralgia, and consistent laboratory abnormalities that include leukocytosis and hyperferritinemia. Skin findings accompany the disease in nearly 90% of the cases. Early reports described evanescent, pruritic, salmon-pink or urticarial lesions, referred to as the typical eruption of AOSD. Histopathologic findings consist of superficial perivascular dermatitis with varying number of interstitial neutrophils...
March 25, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28301468/recessive-coding-and-regulatory-mutations-in-fblim1-underlie-the-pathogenesis-of-chronic-recurrent-multifocal-osteomyelitis-crmo
#16
Allison J Cox, Benjamin W Darbro, Ronald M Laxer, Gabriel Velez, Xinyu Bing, Alexis L Finer, Albert Erives, Vinit B Mahajan, Alexander G Bassuk, Polly J Ferguson
Chronic recurrent multifocal osteomyelitis (CRMO) is a rare, pediatric, autoinflammatory disease characterized by bone pain due to sterile osteomyelitis, and is often accompanied by psoriasis or inflammatory bowel disease. There are two syndromic forms of CRMO, Majeed syndrome and DIRA, for which the genetic cause is known. However, for the majority of cases of CRMO, the genetic basis is unknown. Via whole-exome sequencing, we detected a homozygous mutation in the filamin-binding domain of FBLIM1 in an affected child with consanguineous parents...
2017: PloS One
https://www.readbyqxmd.com/read/28258405/-genetics-of-autoinflammatory-syndromes
#17
EDITORIAL
G Horneff, R E Schmidt
No abstract text is available yet for this article.
March 3, 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28236224/papa-pash-and-papash-syndromes-pathophysiology-presentation-and-treatment
#18
REVIEW
Massimo Cugno, Alessandro Borghi, Angelo V Marzano
Pyoderma gangrenosum (PG) is a neutrophilic dermatosis usually manifesting as skin ulcers with undermined erythematous-violaceous borders. It may be isolated, associated with systemic conditions or occurring in the context of autoinflammatory syndromes such as PAPA (pyogenic arthritis, PG and acne), PASH (PG, acne and suppurative hidradenitis) or PAPASH (pyogenic arthritis, acne, PG and suppurative hidradenitis). From a physiopathological point of view, all these conditions share common mechanisms consisting of over-activation of the innate immune system leading to increased production of the interleukin (IL)-1 family and 'sterile' neutrophil-rich cutaneous inflammation...
February 25, 2017: American Journal of Clinical Dermatology
https://www.readbyqxmd.com/read/28230570/refractory-pure-red-cell-aplasia-manifesting-as-deficiency-of-adenosine-deaminase-2
#19
Hasan Hashem, Rachel Egler, Jignesh Dalal
Primary progress has been made in the last 2 years, particularly in finding novel disease-causing genes for a number of autoinflammatory diseases and primary immunodeficiencies. Whole-exome sequencing has dramatically increased the pace at which causative genes are being discovered. CECR1 (Cat eye syndrome chromosome region, candidate 1) gene encodes adenosine deaminase 2 (ADA2) protein. Patients who carry CECR1 mutation(s) suffer from deficiency of ADA2 (DADA2). Here, we describe a patient with pure red cell aplasia discovered to have DADA2...
February 22, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28229991/a-novel-mutation-in-the-pyrin-domain-of-the-nod-like-receptor-family-pyrin-domain-containing-protein-3-in-muckle-wells-syndrome
#20
Jian Hu, Yun Zhu, Jian-Zhong Zhang, Rong-Guang Zhang, Hou-Min Li
BACKGROUND: Cryopyrin-associated periodic syndrome (CAPS) is a group of rare, heterogeneous autoinflammatory disease characterized by interleukin (IL)-1β-mediated systemic inflammation and clinical symptoms involving skin, joints, central nervous system, and eyes. It encompasses a spectrum of three clinically overlapping autoinflammatory syndromes including familial cold autoinflammatory syndrome, Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease. CAPS is associated with gain-of-function missense mutations in NOD-like receptor family pyrin domain-containing protein 3 (NLRP3), the gene encoding NLRP3...
March 5, 2017: Chinese Medical Journal
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