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Phagocytic cells and their functions
Published in Gabriel Virella, Medical Immunology, 2019
Gabriel Virella, John W. Sleasman
Mevalonate kinase deficiency, also known as hyper IgD syndrome, causes a less severe form of periodic fever syndrome associated with chronic adenopathy, oral aphthosis ulcers, chronic diarrhea, and mevalonate acidosis during attacks. Laboratory findings include leukocytosis and elevated IgD levels.
Connective Tissue Diseases: ENT Complications
Published in John C Watkinson, Raymond W Clarke, Louise Jayne Clark, Adam J Donne, R James A England, Hisham M Mehanna, Gerald William McGarry, Sean Carrie, Basic Sciences Endocrine Surgery Rhinology, 2018
They are disorders of the inflammasome with triggers including emotional and physical stress, the menstrual cycle and pregnancy, vaccination reactions in hyper-IgD syndrome (HIDS), local mucosal trauma (e.g. in PFAFA), cold as in some cryopyrin-associated periodic syndromes (CAPS) syndromes: Familial Mediterranean fever (FMF) is due to a gene mutation MEFV, location 16p13.3 proteins affected pyrin and marenostrin. FMF may cause sensorineural hearing loss.Hyperimmunoglobulinemia D (or hyper IgD syndrome) with periodic fever syndrome (HIDS) gene mutation MVK located at 12q24, proteins affected mevalonate kinase deficiency. Most cases have marked reactions to immunizations. Febrile episodes with lymphadenopathy, rashes sometimes with hepatosplenomegaly, arthralgia, abdominal pain, irritability.Tumour necrosis factor (TNF) receptor–associated periodic syndrome (TRAPS) gene TNFRSF1A located 12p13, proteins affected TNF-receptor Type 1
Rheumatology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Clarissa Pilkington, Kiran Nistala, Helen Lachman, Paul Brogan
The periodic fever syndromes are disorders of innate immunity, now usually referred to as autoinflammatory diseases. They are characterised by the following: Recurring episodes of fever and constitutional upset, but with normal health between attacks.Systemic inflammatory symptoms affecting: serosal surfacesjointsskineyes.Biochemical markers of inflammation: raised ESR, CRP and leucocytosis.Near normal life expectancy, except for risk of developing AA amyloidosis in later life.Seven major inherited syndromes are well described, but many new monogenic autoinflammatory diseases have recently been discovered (Table 17.1): FMF.TNF receptor-associated period syndrome (TRAPS).mevalonate kinase deficiency (MKD) (also known as hyperimmunoglobulin D and periodic fever syndrome [HIDS]).cryopyrin-associated periodic syndrome (CAPS) (subdivided into familial cold autoinflammatory syndrome [FCAS], Muckle Wells syndrome [MWS] and chronic infantile, neurological, cutaneous and articular syndrome/neonatal onset multi-system inflammatory disease [CINCA/NOMID]).pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome.deficiency of IL-1 receptor antagonist (DIRA).Blau syndrome/early onset sarcoidosis (EOS).
National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics
Published in Modern Rheumatology, 2019
Takayuki Tanaka, Kohei Yoshioka, Ryuta Nishikomori, Hidemasa Sakai, Junya Abe, Yuriko Yamashita, Ryugo Hiramoto, Akira Morimoto, Eiichi Ishii, Hirokazu Arakawa, Utako Kaneko, Yusei Ohshima, Nami Okamoto, Osamu Ohara, Ikue Hata, Yosuke Shigematsu, Tomoki Kawai, Takahiro Yasumi, Toshio Heike
Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory syndrome caused by disease-causing variants of the gene encoding mevalonate kinase (MVK), an enzyme involved in biosynthesis of cholesterol and isoprenoids [1]. The disease manifests as a continuous spectrum of clinical signs ranging from recurrent febrile attacks, known as hyperimmunoglobulinemia D syndrome (HIDS, MIM no. 260920), to a more severe form known as mevalonic aciduria (MA, MIM no. 610377), which is also associated with psychomotor retardation, facial dysmorphia, cataract, and failure to thrive [2]. Low MVK activity reduces production of cholesterol and non-sterol isoprenoids. A shortage of isoprenoids, mainly geranyl-geranyl groups, leads to decreased geranylgeranylation of RhoA and increased production of IL-1β [3,4]. Currently, treatment of MKD is based on the severity of the symptoms shown by each patient; mild cases require NSAIDs or glucocorticoids, whereas more severe cases require biologics or hematopoietic stem cell transplantation [5,6].
Evaluation of different classification criteria in children with Behcet disease: results from a single referral center
Published in Expert Review of Clinical Immunology, 2020
Rabia Miray Kisla Ekinci, Ebru Esen, Ahmet Hakan Erol, Selcuk Sızmaz, Dilek Karagoz, Derya Ufuk Altintas, Sibel Balcı
The small size of the pediatric BD cohort is the major limitation of the present study. The lack of variable inflammatory diseases including with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenopathy Syndrome (PFAPA) and Mevalonate Kinase Deficiency (MKD) among control subjects could also be a limitation of our study design. Because oral aphthous and genital ulcers may be also present in PFAPA and MKD, including patients with such diseases, would better test the specificity of criteria [25–27].
Hematopoietic stem cell transplantation in systemic autoinflammatory diseases - the first one hundred transplanted patients
Published in Expert Review of Clinical Immunology, 2022
Sara Signa, Gianluca Dell’Orso, Marco Gattorno, Maura Faraci
Mevalonic aciduria (MVA) is an autosomal recessive (AR) disease due to a severe deficiency (<1%) of MVK, an enzyme that plays a crucial role in the early stage of the isoprenoid biosynthesis. MVA is characterized by neurological involvement with psychomotor retardation, cerebellar ataxia, facial dysmorphism, with fever attacks lasting 4 to 7 days, cervical lymphadenopathy, abdominal pain with vomiting, and diarrhea. Biallelic mutations of MVK gene associated to a residual enzymatic activity are also responsible of hyper immunoglobulin D syndrome (HIDS), characterized by recurrent inflammatory episodes but without severe neurological impairment. The treatment of Mevalonate kinase deficiency (MKD) spectrum includes steroids and IL1-inhibitor as anakinra or canakinumab, reported as the most safe and efficacious drugs in this disease. However the most severe form of MKD, namely, MVA, is usually characterized by a persistent inflammation that generally is not completely controlled by anti-IL1 treatment. The first child with MVA who received an allo-HSCT was described in June 2007 by Neven et al [9]. The patient was a 3-year-old boy resistant to conventional treatments who received a related donor (RD) – HSCT. The child obtained a complete remission of inflammatory attacks 15 months after HSCT, while the neurological impairment and magnetic resonance imaging (MRI) findings remained stable as before the HSCT. To date, a total of 10 patients [9–17] with MKD receiving a transplant have been reported. Three patients required also IL-1 inhibition during HSCT period. Two patients died after HSCT for severe sepsis [10,14]. In another case, the underlying disease recurred 18 months after HSCT, requiring the use of anti IL-1β monoclonal antibodies, namely canakinumab [11]. Three patients received haploidentical (haplo) -HSCT with a negative selection of α/β T-cell and CD19 lymphocytes with a good engraftment (one after the second transplant). The conditioning regimens (CR) included Treosulfan (Treo)-Thiotepa (TT)- Fludarabine (Fluda) -antithymocyte globulin (ATG), and Rituximab. Two of them did not develop acute and chronic Graft versus host disease (GvHD) and had a satisfying immune reconstitution without infectious complications [12]. In the third patient, mild acute GvHD was reported [17]. A fourth patient received a haplo-HSCT as second transplant after graft failure and acute myeloid leukemia occurrence, but died few days later for sepsis [14] (Table 1).