Literature DB >> 23692791

Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature.

Pınar Gençpınar1, Balahan B Makay, Marco Gattorno, Francesco Caroli, Erbil Ünsal.   

Abstract

The hyperimmunoglobulinemia D syndrome (HIDS), so-called mevalonate kinase deficiency, is caused by recessive mutations in the gene encoding mevalonate kinase enzyme. HIDS is characterized by recurrent fever attacks of 3-7 days that begin in infancy and recur every 4-6 weeks. The febrile period is accompanied by lymphadenopathy, arthralgia, abdominal pain, diarrhea, aphthous ulcers, and varying degree of skin involvement. The course and severity of the disease may be quite different. There is no effective or proven therapy for HIDS. We report two cases with HIDS, which had separate clinical findings and treatment strategies.

Entities:  

Mesh:

Substances:

Year:  2012        PMID: 23692791

Source DB:  PubMed          Journal:  Turk J Pediatr        ISSN: 0041-4301            Impact factor:   0.552


  3 in total

Review 1.  Treatment of hyperimmunoglobulinemia D syndrome with biologics in children: review of the literature and Finnish experience.

Authors:  Svetlana Kostjukovits; Liisa Kalliokoski; Kaisu Antila; Matti Korppi
Journal:  Eur J Pediatr       Date:  2015-02-27       Impact factor: 3.183

Review 2.  Periodontal and other oral manifestations of immunodeficiency diseases.

Authors:  M E Peacock; R M Arce; C W Cutler
Journal:  Oral Dis       Date:  2016-10-10       Impact factor: 3.511

3.  Gene Expression Analysis of Mevalonate Kinase Deficiency Affected Children Identifies Molecular Signatures Related to Hematopoiesis.

Authors:  Simona Pisanti; Marianna Citro; Mario Abate; Mariella Caputo; Rosanna Martinelli
Journal:  Int J Environ Res Public Health       Date:  2021-01-28       Impact factor: 3.390

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.