Advertisement

European Journal of Pediatrics

, Volume 167, Issue 11, pp 1335–1338 | Cite as

Novel BTK mutation presenting with vaccine-associated paralytic poliomyelitis

  • Setareh Mamishi
  • Shohreh Shahmahmoudi
  • Hamideh Tabatabaie
  • Shahram Teimourian
  • Babak Pourakbari
  • Yousof Gheisari
  • Mehdi Yeganeh
  • Ali Salavati
  • Abdol-Reza Esteghamati
  • Mohammad Mehdi Gooya
  • Rakhshandeh Nategh
  • Nima ParvanehEmail author
Short Report

Abstract

Oral polio vaccine (OPV) has been used safely and efficiently for more than 40 years in preventive medicine. Vaccine-associated paralytic poliomyelitis (VAPP) is a rare adverse event of OPV due to reversion of the vaccine strain virus to a neurovirulent strain. VAPP can occur in healthy recipients or their close contacts. However, persons with primary humoral immunodeficiencies are at a much higher risk. X-linked agammaglobulinemia (XLA) is a prototypic humoral deficiency caused by mutations in the Bruton’s tyrosine kinase (BTK) gene. In addition to susceptibility to bacterial infections, patients with XLA are especially prone to enteroviruses. Here, we describe the occurrence of VAPP in a 15-month old Iranian boy. The child had received four doses of OPV, administered at birth, 2, 4, and 6 months of age. The patient’s infectious history was unremarkable. Laboratory evaluation revealed low levels of immunoglobulin G and CD19+ B cells of less than 1% of the lymphocyte population. A novel insertion (c.685_686insTTAC) in the SH3 domain of the BTK gene was detected as the underlying cause. Immunodeficient recipients of OPV can excrete poliovirus vaccine strains for a long period and are at risk of developing flaccid paralysis. They could also serve as a source of reverted virulent poliovirus to be reintroduced into the general population. This patient presented for the first time with VAPP, without any history of other major infections in 15 months. This suggests that a negative history for recurrent infections does not exclude the presence of a primary defect in the immune system.

Keywords

Bruton’s tyrosine kinase (BTKVaccine-associated paralytic poliomyelitis (VAPP) X-linked agammaglobulinemia (XLA) 

Abbreviations

AFP

acute flaccid paralysis

BTK

Bruton’s tyrosine kinase

IPV

inactivated poliovirus vaccine

iVDPV

immunodeficiency-associated vaccine-derived polioviruses

OPV

oral polio vaccine

PBMCs

peripheral blood mononuclear cells

TLR-8

toll-like receptor 8

VAPP

vaccine-associated paralytic poliomyelitis

VP1

viral capsid protein 1

XLA

X-linked agammaglobulinemia

References

  1. 1.
    Alexander JP Jr, Gary HE Jr, Pallansch MA (1997) Duration of poliovirus excretion and its implications for acute flaccid paralysis surveillance: a review of the literature. J Infect Dis 175(Suppl 1):S176–S182PubMedGoogle Scholar
  2. 2.
    Centers for Disease Control and Prevention (2003) Progress toward poliomyelitis eradication—Ethiopia, Somalia, and Sudan, January 2001–October 2002. JAMA 289:1095–1097CrossRefGoogle Scholar
  3. 3.
    Davis LE, Bodian D, Price D, Butler IJ, Vickers JH (1977) Chronic progressive poliomyelitis secondary to vaccination of an immunodeficient child. N Engl J Med 297:241–245PubMedCrossRefGoogle Scholar
  4. 4.
    Kew OM, Sutter RW, de Gourville EM, Dowdle WR, Pallansch MA (2005) Vaccine-derived polioviruses and the endgame strategy for global polio eradication. Annu Rev Microbiol 59:587–635PubMedCrossRefGoogle Scholar
  5. 5.
    Khetsuriani N, Prevots DR, Quick L, Elder ME, Pallansch M, Kew O, Sutter RW (2003) Persistence of vaccine-derived polioviruses among immunodeficient persons with vaccine-associated paralytic poliomyelitis. J Infect Dis 188:1845–1852PubMedCrossRefGoogle Scholar
  6. 6.
    Lee WI, Torgerson TR, Schumacher MJ, Yel L, Zhu Q, Ochs HD (2005) Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome. Blood 105:1881–1890PubMedCrossRefGoogle Scholar
  7. 7.
    Parvaneh N, Shahmahmoudi S, Tabatabai H, Zahraei M, Mousavi T, Esteghamati AR, Gooya MM, Mamishi S, Nategh R, Kew OM (2007) Vaccine-associated paralytic poliomyelitis in a patient with MHC class II deficiency. J Clin Virol 39:145–148PubMedCrossRefGoogle Scholar
  8. 8.
    Sochorová K, Horváth R, Rozková D, Litzman J, Bartunková J, Sedivá A, Spísek R (2007) Impaired Toll-like receptor 8-mediated IL-6 and TNF-alpha production in antigen-presenting cells from patients with X-linked agammaglobulinemia. Blood 109:2553–2556PubMedCrossRefGoogle Scholar
  9. 9.
    Tsukada S, Saffran DC, Rawlings DJ, Parolini O, Allen RC, Klisak I, Sparkes RS, Kubagawa H, Mohandas T, Quan S, Belmont JW, Cooper MD, Conley ME, Witte ON (1993) Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 72:279–290PubMedCrossRefGoogle Scholar
  10. 10.
    Vetrie D, Vorechovský I, Sideras P, Holland J, Davies A, Flinter F, Hammarström L, Kinnon C, Levinsky R, Bobrow M, Smith CIE, Bentley DR (1993) The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature 361:226–233PubMedCrossRefGoogle Scholar
  11. 11.
    Weibel RE, Benor DE (1996) Reporting vaccine-associated paralytic poliomyelitis: concordance between the CDC and the National Vaccine Injury Compensation Program. Am J Public Health 86:734–737PubMedCrossRefGoogle Scholar
  12. 12.
    Winkelstein JA, Marino MC, Lederman HM, Jones SM, Sullivan K, Burks AW, Conley ME, Cunningham-Rundles C, Ochs HD (2006) X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine (Baltimore) 85:193–202CrossRefGoogle Scholar
  13. 13.
    Wright PF, Hatch MH, Kasselberg AG, Lowry SP, Wadlington WB, Karzon DT (1977) Vaccine-associated poliomyelitis in a child with sex-linked agammaglobulinemia. J Pediatr 91:408–412PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Setareh Mamishi
    • 1
  • Shohreh Shahmahmoudi
    • 2
  • Hamideh Tabatabaie
    • 2
  • Shahram Teimourian
    • 3
  • Babak Pourakbari
    • 1
  • Yousof Gheisari
    • 4
  • Mehdi Yeganeh
    • 3
  • Ali Salavati
    • 1
  • Abdol-Reza Esteghamati
    • 5
  • Mohammad Mehdi Gooya
    • 5
  • Rakhshandeh Nategh
    • 2
  • Nima Parvaneh
    • 1
    Email author
  1. 1.Department of Pediatrics, Infectious Disease Research Center, Children’s Medical CenterMedical Sciences/University of TehranTehranIran
  2. 2.National Polio Laboratory, School of Public Health and Institute of Public Health ResearchMedical Sciences/University of TehranTehranIran
  3. 3.Immunology, Asthma and Allergy Research InstituteMedical Sciences/University of TehranTehranIran
  4. 4.Pasteur Institute of IranTehranIran
  5. 5.Center for Diseases Control and ManagementMinistry of HealthTehranIran

Personalised recommendations