Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children

2011 ◽  
Vol 32 (10) ◽  
pp. 3253-3260 ◽  
Author(s):  
E. Lainka ◽  
U. Neudorf ◽  
P. Lohse ◽  
C. Timmann ◽  
M. Bielak ◽  
...  
Keyword(s):  
Clinical Features ◽  
Periodic Fever ◽  
Mevalonate Kinase ◽  
Periodic Fever Syndrome ◽  
German Children

scholarly journals Two cases of periodic fever syndrome with coexistent mevalonate kinase and mediterranean fever gene mutations

2017 ◽  
Vol 59 (4) ◽  
pp. 467 ◽  
Author(s):  
Mustafa Çakan ◽  
Nuray Aktay-Ayaz ◽  
Gonca Keskindemirci ◽  
Şerife Gül Karadağ
Keyword(s):  
Periodic Fever ◽  
Gene Mutations ◽  
Mevalonate Kinase ◽  
Periodic Fever Syndrome ◽  
Mediterranean Fever

Hereditary periodic fever syndromes

2020 ◽  
pp. 2207-2218
Author(s):  
Helen J. Lachmann ◽  
Stefan Berg ◽  
Philip N. Hawkins
Keyword(s):  
Clinical Features ◽  
Periodic Fever ◽  
Mevalonate Kinase ◽  
Tnf Receptor ◽  
Aa Amyloidosis ◽  
Periodic Fever Syndromes ◽  
Hereditary Periodic Fever Syndromes ◽  
Hereditary Periodic Fever ◽  
Fever Syndromes ◽  
Wells Syndrome

The hereditary periodic fever syndromes or hereditary autoinflammatory diseases are disorders of innate immunity that mostly present in childhood and are characterized by recurrent, self-limiting, seemingly unprovoked episodes of fever and systemic inflammation that occur in the absence of autoantibody production or identifiable infection. Disorders include (1) familial Mediterranean fever (FMF), due to mutations in the gene encoding pyrin; (2) tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS), due to mutations in a gene for a TNF receptor; (3) mevalonate kinase deficiency and period fever (MKD), caused by mutations in the mevalonate kinase gene; and (4) the cryopyrin-associated periodic syndromes (CAPS), which include (a) familial cold urticarial syndrome, (b) Muckle–Wells syndrome, and (c) chronic infantile neurological, cutaneous, and articular syndrome. With advances in genetics, further syndromes are continually being recognized. These are all extremely rare and in the majority are only known to affect a handful of kindred or individuals. Diagnosis relies on recognition of suggestive clinical features that are almost always accompanied by a substantial acute phase response, and is supported by genetic testing. With the exception of FMF, which is a common disease in certain geographic areas, hereditary periodic fever syndromes are rare and easily overlooked in the differential diagnosis of recurrent fevers. Clinical features and management—attacks can be mild to debilitating and short to prolonged, while their most feared complication is AA amyloidosis. Effective therapies are available for some syndromes, for example: (1) FMF—daily prophylactic colchicine prevents clinical attacks and susceptibility to AA amyloidosis, (2) CAPS—treatment with anti-IL-1 agents produces rapid and often complete clinical and serological remission, and (3) TRAPS—anti-IL therapies are extremely effective.

Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome

10.1038/9696 ◽  
1999 ◽  
Vol 22 (2) ◽  
pp. 178-181 ◽  
Author(s):  
Joost P.H. Drenth ◽  
Laurence Cuisset ◽  
Gilles Grateau ◽  
Christian Vasseur ◽  
Saskia D. van de Velde-Visser ◽  
...  
Keyword(s):  
Periodic Fever ◽  
Mevalonate Kinase ◽  
Periodic Fever Syndrome ◽  
Gene Encoding

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

10.1038/9691 ◽  
1999 ◽  
Vol 22 (2) ◽  
pp. 175-177 ◽  
Author(s):  
Sander M. Houten ◽  
Wietse Kuis ◽  
Marinus Duran ◽  
Tom J. de Koning ◽  
Annet van Royen-Kerkhof ◽  
...  
Keyword(s):  
Periodic Fever ◽  
Mevalonate Kinase ◽  
Periodic Fever Syndrome

Molecular Analysis of the Mevalonate Kinase Gene in a Cohort of Patients with the Hyper-IgD and Periodic Fever Syndrome: Its Application as a Diagnostic Tool

2001 ◽  
Vol 135 (5) ◽  
pp. 338 ◽  
Author(s):  
Anna Simon ◽  
Laurence Cuisset ◽  
M.-Françoise Vincent ◽  
Saskia D. van der Velde-Visser ◽  
Marc Delpech ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Diagnostic Tool ◽  
Periodic Fever ◽  
Mevalonate Kinase ◽  
Periodic Fever Syndrome ◽  
Kinase Gene ◽  
Mevalonate Kinase Gene

O007. Register of hereditary auto-inflammatory diseases in a pediatric rheumatology unit

Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_5) ◽  
Author(s):  
M Souali ◽  
F Semlali ◽  
G Benbrahim ◽  
A Sakhi ◽  
N Mikou ◽  
...  
Keyword(s):  
Clinical Features ◽  
Periodic Fever ◽  
Diagnostic Delay ◽  
Chronic Recurrent Multifocal Osteomyelitis ◽  
Recurrent Fever ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Genetic Syndromes ◽  
Mediterranean Fever ◽  
Wells Syndrome

Abstract Background Autoinflammatory diseases (AID) are a group of genetic syndromes resulting from an excessive activation of the innate immune system, caused by mutations in genes regulating the inflammatory pathways and can involve several organs. The aim of this study is to evaluate the clinical, paraclinical, epidemiogical and genetic data of Moroccan patients with confirmed AID, in order to allow a first experience of AID registry in our unit. Material We have retrospectively analyzed 30 cases of patients in our unit over a period of 13 years (between 2006 and 2019), according to inclusion criterias (recurrent fever > 3 episodes and a CRP > 40mg/L) and having excluded immune deficiency, autoimmune disease, neoplasia and infectious diseases. Results The mean age of our patients at 1st consultation was 6.9 years (with extremes ranging from 8 months to 14 years). Consanguinity was reported in 16 cases, and unknown in one case of an adopted child. The patients were classified as follows: 66% of cases with Familial Mediterranean Fever (FMF) including 1 case with a characteristic phenotype of Marshall/Periodic Fever Aphtous Pharyngitis Adenitis (PFAPA) syndrome, 16% of cases with Mevalonate Kinase Deficiency (MKD), 10% of cases with Chronic Recurrent Multifocal Osteomyelitis (CRMO), 1 patient with Familial Pustular Psoriasis (FPP) and another symptomatic patient with Muckle Wells syndrome. An association with Henoch Schonlein purpura was reported in 30% of cases and with periarteritis nodosa in 1 case in FMF patients. The mean diagnostic delay was 3 years (with extremes ranging from 1 month to 12 years). The main clinical features found in our patients included fever (83%), abdominal pain (90%), arthralgia (83%), arthritis (46%), adenopathies (40%), aphtous (30%) and other specific signs. Genetic analysis revealed that M694V was the most frequent mutation (60%), followed by A744S (15%), E148Q (10%), K695R (10%) and P369S/ R408Q (5%) in all FMF patients, and V337I found in 1 patient with MKD while the 4 others were confirmed basing on a high rate of urinary mevalonic acid. CRMO patients were confirmed by radiological and histological analysis. The case of FPP was confirmed histologically by skin biopsy and the patients with Muckle Wells and PFAPA syndroms were diagnosed basing on characteristic clinical features. Therapeutically, all FMF patients were treated with colchicine in addition of corticosteroids in 1 case of PFAPA syndrome. Patients with MKD received targeted therapy (Anakinra, Etanercept) and Ibuprofen in 1 case. CRMO patients were treated with targeted therapy and NSAIDs. The case of FPP was treated with Methotrexate combined with Etanercept and the patient with Muckel Wells Syndrome received corticosteroid therapy combined with Azathioprine and then Anakinra. The clinical and biological evolution was considered favorable in 76% of cases, partial in 13% of cases and 3 death cases were reported. Conclusion AIDs remain rare genetic syndromes whose lack of knowledge explains the late diagnostic delay. Therefore, it is necessary for any pediatrician to know how to evoke an AID in front of recurrent fever with free intervals, clinical features and inflammatory syndrome, in order to choose the optimal treatment as well as to make the genetic counseling. Abbreviations AID: Auto-Inflammatory Disease CAPS: Cryopyrin Associated Periodic Syndromes CARD14: Caspase Recruitment Domain Family Member 14 CIAS1: Cold-Induced Autoinflammatory Syndrome 1 CRMO: Chronic Recurrent Multifocal Osteomyelitis CRP: C-Reactive Protein CT scan: Computerized Tomography scan DNA: DeoxyriboNucleic Acid ESR: Erythrocyte Sedimentation Rate FMF: Familial Mediterranean Fever FPP: Familial Pustular Psoriasis IL-1β: Interleukine-1beta IL-17A: Interleukine 17A MEFV: Mediterranean fever gene MKD: Mevalonate Kinase Deficiency MVK: Mevalonate Kinase MW: Muckle Wells NALP3: NAcht Leucine-rich repeat Protein 3 NLRP3: NOD-like receptor family, pyrin domain containing 3 NSAID: Non-Steroidal Anti Inflammatory Drugs PFAPA: Periodic Fever Aphtous Pharyngitis Adenitis PRINTO: Pediatric Rheumatology INternational Trials Organization SAA: Serum Amyloid A TRAPS: TNF Receptor Associated Periodic Syndroms TNF: Tumor Necrosis Factor

scholarly journals Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome

2001 ◽  
Vol 9 (4) ◽  
pp. 253-259 ◽  
Author(s):  
Sander M Houten ◽  
Janet Koster ◽  
Gerrit-Jan Romeijn ◽  
Joost Frenkel ◽  
Maja Di Rocco ◽  
...  
Keyword(s):  
Periodic Fever ◽  
Mevalonate Kinase ◽  
Periodic Fever Syndrome ◽  
Novel Mutations ◽  
Mevalonic Aciduria ◽  
Mvk Gene
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