Intermittent neutropenia as an early feature of mild mevalonate kinase deficiency

Journal of Clinical Immunology

Volumn 34, Issue 1, 2014, Pages 123-126

  Parvaneh, Nima ^a   Ziaee, Vahid ^a   Moradinejad, Mohammad Hassan ^a   Touitou, Isabelle ^b  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b MONTPELLIER UNIVERSITY HOSPITAL   (France)

Author keywords

auto inflammatory disorder; Hyper IgD and periodic fever syndrome; mevalonate kinase; mutation; neutropenia

Indexed keywords

C REACTIVE PROTEIN; DEXAMETHASONE; IMMUNOGLOBULIN D; ISOLEUCINE; MEVALONATE KINASE; VALINE;

ABDOMINAL PAIN; AMINO ACID SUBSTITUTION; APHTHOUS ULCER; ARTICLE; CASE REPORT; CHILD; DIARRHEA; DISEASE COURSE; EXON; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; HYPERIMMUNOGLOBULINEMIA D AND PERIODIC FEVER SYNDROME; IMMUNOGLOBULIN BLOOD LEVEL; INTERMITTENT NEUTROPENIA; LEUKOCYTE COUNT; LEUKOCYTOSIS; LYMPHADENOPATHY; MACULOPAPULAR RASH; MALE; MONOCYTOSIS; NEUTROPENIA; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; RASH; RECURRENT FEVER;

CONSANGUINITY; EXONS; HUMANS; IMMUNOGLOBULIN D; INFANT; LEUKOCYTE COUNT; MALE; MEVALONATE KINASE DEFICIENCY; MUTATION; NEUTROPENIA; PHENOTYPE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR);

EID: 84896723460     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-013-9955-5     Document Type: Article

References (22)

1. Simon A, van der Meer JW. Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes. Am J Physiol Regul Integr Comp Physiol. 2007;292(1):R86-98.
2. van der Meer JW, Vossen JM, Radl J, van Nieuwkoop JA, Meyer CJ, Lobatto S, et al. Hyperimmunoglobulinaemia D and periodic fever: a new syndrome. Lancet. 1984;1(8386):1087-90.
3. Steichen O, van der Hilst J, Simon A, Cuisset L, Grateau G. A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever. J Rheumatol. 2009;36(8):1677-81.
4. van der Hilst JC, Bodar EJ, Barron KS, Frenkel J, Drenth JP, van der Meer JW, et al. Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine (Baltimore). 2008;87(6):301-10.
5. Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, De Jong JG, et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet. 1999;22(2):178-81.
6. Stoffels M, Simon A. Hyper-IgD syndrome or mevalonate kinase deficiency. Curr Opin Rheumatol. 2011;23(5):419-23.
7. Drenth JP, Haagsma CJ, van der Meer JW. Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group. Medicine (Baltimore). 1994;73(3):133-44.
8. Houten SM, Wanders RJ, Waterham HR. Biochemical and genetic aspects of mevalonate kinase and its deficiency. Biochim Biophys Acta. 2000;1529(1-3):19- 32.
9. Mandey SH, Schneiders MS, Koster J, Waterham HR. Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. Hum Mutat. 2006;27(8):796-802.
10. Simon A, Kremer HP, Wevers RA, Scheffer H, De Jong JG, van der Meer JW, et al. Mevalonate kinase deficiency: evidence for a phenotypic continuum. Neurology. 2004;62(6):994-7.
11. Horwitz M, Benson KF, Person RE, Aprikyan AG, Dale DC. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat Genet. 1999;23(4):433-6.
12. Drenth JP, van der Meer JW. Hereditary periodic fever. N Engl J Med. 2001;345(24):1748-57.
13. Bader-Meunier B, Florkin B, Sibilia J, Acquaviva C, Hachulla E, Grateau G, et al. Mevalonate kinase deficiency: a survey of 50 patients. Pediatrics. 2011;128(1):e152-9.
14. Cuisset L, Drenth JP, Simon A, Vincent MF, van der Velde-Visser S, van der Meer JW, et al. Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Eur J Hum Genet. 2001;9(4):260-6.
15. D'Osualdo A, Picco P, Caroli F, Gattorno M, Giacchino R, Fortini P, et al. MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. Eur J Hum Genet. 2005;13(3):314-20.
16. Houten SM, van Woerden CS, Wijburg FA, Wanders RJ, Waterham HR. Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands. Eur J Hum Genet. 2003;11(2):196-200.
17. Dale DC, Bolyard AA, Aprikyan A. Cyclic neutropenia. Semin Hematol. 2002;39(2):89-94.
18. Boxer LA. How to approach neutropenia. Hematology Am Soc Hematol Educ Program. 2012;2012:174-82.
19. Dale DC, Hammond WP. Cyclic neutropenia: a clinical review. Blood Rev. 1988;2(3):178-85.
20. Samkari A, Borzutzky A, Fermo E, Treaba DO, Dedeoglu F, Altura RA. A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia. Pediatrics. 2010;125(4):e964-8.
21. Leung KF, Baron R, Seabra MC. Thematic review series: lipid posttranslational modifications. geranylgeranylation of Rab GTPases. J Lipid Res. 2006;47(3):467-75.
22. Ganiou TK, Ailal F, Najib J, Bellanne-Chantelot C, Donadieu J, Bousfiha AA. Intermittent chronic neutropenia in a patient with familial Mediterranean fever. Pediatr Blood Cancer. 2008;51(5):701-3.