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Periodic Fever Syndrome (periodic + fever_syndrome)

Distribution by Scientific Domains

Medical Sciences	87%

Selected Abstracts

Periodic fever syndromes: a diagnostic challenge for the allergist

ALLERGY, Issue 12 2007
M. Lierl
The objective was to present a case of periodic fever with aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA), summarize the medical literature on PFAPA, review the differential diagnosis and suggest a diagnostic approach to periodic fevers in children. A PubMed search was conducted for all case reports and series of patients with PFAPA. The references of these papers yielded further case reports. Review articles or large case series were used for sources of information regarding the other periodic fever and autoinflammatory syndromes. All cases reported as PFAPA were included in the review, even though a few of the cases may not have been accurately diagnosed. The periodic fever and autoinflammatory syndromes of childhood are a group of diseases that cause repeated febrile illnesses with various associated symptoms. Except for PFAPA, each of these diseases is caused by a known genetic mutation. Effective treatment options and long-term prognosis varies among these syndromes. Children with periodic fever or autoinflammatory syndromes sometimes present to an Allergy/Immunology clinic for immunologic evaluation. It is important for the Allergy/Immunology specialist to be familiar with the clinical presentation, diagnostic approach and treatment of these conditions. [source]

Mutational spectrum and genotype,phenotype correlations in mevalonate kinase deficiency,

HUMAN MUTATION, Issue 8 2006
Saskia H.L. Mandey
Abstract Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory disorder caused by mutations in the MVK gene resulting in deficient activity of mevalonate kinase (MK). Depending on the clinical severity, MKD may present as hyper-IgD and periodic fever syndrome (HIDS) or the more severe mevalonic aciduria (MA). We analyzed the MVK gene in 57 patients with MKD and found 39 different mutations including 15 novel mutations, expanding the total mutational spectrum of MKD to 63 mutations. To get more insight into the genotype,phenotype correlation in MKD, we studied the effect of selected missense mutations on MK protein stability and activity in various patient fibroblast cell lines. All MKD cell lines showed markedly decreased MK activities that correlated well with the clinical severity and, for most of the cell lines, with the amount of MK protein. When fibroblasts of MKD patients were cultured under conditions known to promote a more controlled protein folding, all cell lines of patients with the HIDS phenotype and few cell lines of patients with the MA phenotype showed an increase in the residual MK activity. This increase in enzyme activity correlates well with an increase in the MK protein levels in these cell lines, indicating that most of the mutations in MKD affect stability and/or folding of the MK protein rather than affecting the catalytic properties of the enzyme. The finding that the residual activity in MKD can be manipulated by environmental conditions may offer therapeutic options to alleviate or prevent the clinical symptoms associated with MKD. Hum Mutat 27(8), 796,802, 2006. © 2006 Wiley-Liss, Inc. [source]

The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever

ARTHRITIS & RHEUMATISM, Issue 11 2009
Massimo Ferretti
Objective Hereditary periodic fever syndromes (HPFs) develop as a result of uncontrolled activation of the inflammatory response, with a substantial contribution from interleukin-1, or tumor necrosis factor , (TNF,). The HPFs include familial Mediterranean fever (FMF), hyperimmunoglobulinemia D with periodic fever syndrome (HIDS), TNF receptor,associated syndrome (TRAPS), and cryopyrinopathies, which are attributable to mutations of the MEFV, MVK, TNFRSF1A, and CIAS1 genes, respectively. However, in many patients, the mutated gene has not been determined; therefore, the condition in these patients with an HPF-like clinical picture is referred to as idiopathic periodic fever (IPF). The aim of this study was to assess involvement of X-linked inhibitor of apoptosis (XIAP), which plays a role in caspase inhibition and NF-,B signaling, both of which are processes that influence the development of inflammatory cells. Methods The XIAP gene (X-linked) was sequenced in 87 patients with IPF, 46 patients with HPF (13 with HIDS, 17 with TRAPS, and 16 with FMF), and 182 healthy control subjects. The expression of different alleles was evaluated by sequencing XIAP -specific complementary DNA mini-libraries and by real-time polymerase chain reaction and Western blot analyses. The functional effect of XIAP on caspase 9 activity was assessed by a fluorimetric assay, and cytokine secretion was evaluated by enzyme-linked immunosorbent assay. Results Sequencing disclosed a 1268A>C variation that caused a Q423P amino acid substitution. The frequency of 423Q-homozygous female patients and 423Q-hemizygous male patients was significantly higher in the IPF group than in the control group (69% versus 51%; odds ratio 2.17, 95% confidence interval 1.23,3.87, P = 0.007), whereas no significant difference was detected in the HPF group (59%) compared with controls. In primary lymphocytes and transfected cell lines, 423Q, as compared with 423P, was associated with higher XIAP protein and messenger RNA expression and lower caspase 9 activation. In lipopolysaccharide-activated monocytes, 423Q was associated with higher secretion of TNF,. Conclusion These results suggest that 423Q is a predisposing factor for IPF development, possibly through its influence on monocyte function. [source]

4252: An introduction to autoinflammatory syndromes

ACTA OPHTHALMOLOGICA, Issue 2010
B BODAGHI
To define the spectrum and pathophysiology of autoinflammatory syndromes. This term has been proposed to describe a new group of diseases characterized by attacks of seemingly unprovoked inflammation in the absence of pathogens, without significant levels of autoantibodies and autoreactive T cells. Hereditary periodic fever syndrome, Crohn's disease, Blau syndrome, Chronic infantile neurologic cutaneous and articular syndrome and Muckle-Wells syndrome are examples of autoinflammatory conditions characterized by recurrent attacks of inflammation without any association with auto-antigens. The study of autoinflammatory diseases has progressed from genetics to definition of the functional defects. Although a direct association between defective innate immune responses to bacterial components and these diseases has not been established yet, this hypothesis remains highly plausible. Mutations in genes encoding the tumour necrosis factor (TNF) receptor and pyrin superfamilies of molecules may induce persistence of leukocytes that would ordinarily undergo apoptosis with further amplification of inflammatory stimuli. The use of biologics may control some of these conditions. [source]

A clinical review of 105 patients with PFAPA (a periodic fever syndrome)

ACTA PAEDIATRICA, Issue 2 2010
HM Feder
Abstract Aims:, We describe the presentations and clinical outcomes of pediatric patients diagnosed with PFAPA (Periodic Fever, Aphthous lesions, Pharyngitis, and cervical Adenitis). Materials and methods:, The medical records of children with recurrent fever and referred between 1998 and 2007 to a tertiary pediatric care hospital were reviewed. Children who met clinical criteria for PFAPA were then asked to participate in a follow-up study. Results:, One hundred and five children met study criteria for PFAPA which included at least six episodes of periodic fever. Most (62%) were males, the mean age at onset of PFAPA was 39.6 months (80% were <5 years at onset), the mean duration of individual fever episodes was 4.1 days, and the mean interval between episodes was 29.8 days. Accompanying signs and symptoms included aphthous stomatitis (38%), pharyngitis (85%), cervical adenitis (62%), headache (44%), vomiting with fever spikes (27%) and mild abdominal pain (41%). A prodrome (usually fatigue) preceded the fever in 62% of patients. Parents noted that when their child with PFAPA had fever, other family members remained well. Laboratory tests in patients with PFAPA were nonspecific. Individual episodes of fever usually resolved with a single oral dose (,1 mg/kg) of prednisilone. The interval between fever episodes shortened in 50% of patients who used prednisilone. PFAPA resolved spontaneously (mean length 33.2 months) in 211105 (20%) patients. PFAF'A episodes continued (mean length 23 months) at the end of this study in 661105 (63%) patients. Cimetidine therapy was associated with the resolution of the fevers in 7/26 (27%) patients; tonsillectomy was associated with the resolution of the fevers in 11/11 (100%) patients. Conclusion:, PFAPA can usually be defined by its clinical characteristics. Individual febrile episodes usually resolve dramatically with oral prednisilone. The cause of PFAPA is unknown and research is needed to define its etiology. The overall prognosis for children with PFAPA is excellent. [source]

Neutrophilic Dermatoses in Children

PEDIATRIC DERMATOLOGY, Issue 5 2008
David R. Berk M.D.
The neutrophilic dermatoses share similar clinical appearances and associated conditions, including inflammatory bowel disease, malignancies, and medications. Overlap forms of disease demonstrating features of multiple neutrophilic dermatoses may be seen. The manuscript attempts to provide an up-to-date review of (i) classical neutrophilic dermatoses, focusing on distinctive features in children and (ii) neutrophilic dermatoses which may largely be pediatric or genodermatosis-associated (Majeed, SAPHO [synovitis, severe acne, sterile palmoplantar pustulosis, hyperostosis, and osteitis] syndrome, PAPA (pyogenic sterile arthritis, pyoderma gangrenosum, and acne), PFAPA (periodic fever with aphthous stomatitis, pharyngitis, and cervical adenopathy), and other periodic fever syndromes, and congenital erosive and vesicular dermatosis healing with reticulated supple scarring). [source]

Autoinflammatory syndromes with a dermatological perspective

THE JOURNAL OF DERMATOLOGY, Issue 9 2007
Nobuo KANAZAWA
ABSTRACT The term autoinflammatory syndromes describes a distinct group of systemic inflammatory diseases apparently different from infectious, autoimmune, allergic and immunodeficient ones. Originally, it was almost synonymous with clinically defined hereditary periodic fever syndromes, including familial Mediterranean fever, hyper immunoglobulin D syndrome with periodic fever and tumor necrosis factor receptor-associated periodic syndrome. Similar but distinct periodic fever syndromes accompanied by urticarial rash, familial cold autoinflammatory syndrome, Muckle,Wells syndrome and chronic infantile neurological cutaneous articular syndrome, have all been reportedly associated with CIAS1 mutations and are collectively called cryopyrin-associated periodic syndromes. Consequently, the concept of autoinflammatory syndromes has been spread to contain other systemic inflammatory diseases: rare hereditary diseases with or without periodic fevers, such as pyogenic sterile arthritis, pyoderma gangrenosum and acne syndrome, Blau syndrome and chronic recurrent multifocal osteomyelitis, and the more common collagen disease-like diseases, such as Behcet's disease, Crohn's disease, sarcoidosis and psoriatic arthritis. These diseases are all caused by or associated with mutations of genes regulating innate immunity and have common clinical features accompanied with activation of neutrophils and/or monocytes/macrophages. In this review, major autoinflammatory syndromes are summarized and the pathophysiology of related skin disorders is discussed in association with dysregulated innate immune signaling. [source]