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Volumn 33, Issue 1, 2013, Pages 1-7

Primary immunodeficiency diseases worldwide: More common than generally thought

Author keywords

Incidence; Mortality; Prevalence; Primary immunodeficiency

Indexed keywords

ARTICLE; ASIA; AUSTRALIA; EPIDEMIOLOGICAL DATA; EUROPE; FRANCE; HUMAN; IMMUNE DEFICIENCY; INCIDENCE; IRAN; JAPAN; MOROCCO; NEW ZEALAND; NORTH AMERICA; PACIFIC ISLANDS; PREVALENCE; PRIORITY JOURNAL; RARE DISEASE; REGISTER; SOUTH AMERICA; TELEPHONE INTERVIEW; ADOLESCENT; CHILD; CHRONIC GRANULOMATOUS DISEASE; COMMON VARIABLE IMMUNODEFICIENCY; IMMUNOLOGY; INFANT; PRESCHOOL CHILD; QUALITY OF LIFE; QUESTIONNAIRE;

EID: 84876442493     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-012-9751-7     Document Type: Article
Times cited : (243)

References (43)
  • 1
    • 84857728047 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases: An update on the classification from the international union of immunological societies expert committee for primary immunodeficiency
    • doi:10.3389/fimmu.2011.00054
    • Al-Herz W, Bousfiha A, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, et al. Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency. Front Immunol. 2011;2:54. doi:10.3389/fimmu.2011.00054.
    • (2011) Front Immunol. , vol.2 , pp. 54
    • Al-Herz, W.1    Bousfiha, A.2    Casanova, J.L.3    Chapel, H.4    Conley, M.E.5    Cunningham-Rundles, C.6
  • 3
    • 34547732069 scopus 로고    scopus 로고
    • Primary immunodeficiencies: A field in its infancy
    • Casanova JL, Abel L. Primary immunodeficiencies: a field in its infancy. Science. 2007;317:617-9.
    • (2007) Science. , vol.317 , pp. 617-619
    • Casanova, J.L.1    Abel, L.2
  • 4
    • 70349790195 scopus 로고    scopus 로고
    • Primary immunodeficiencies: Increasing market share
    • Notarangelo LD, Casanova JL. Primary immunodeficiencies: increasing market share. Curr Opin Immunol. 2009;21:461-5.
    • (2009) Curr Opin Immunol. , vol.21 , pp. 461-465
    • Notarangelo, L.D.1    Casanova, J.L.2
  • 6
    • 22944461763 scopus 로고    scopus 로고
    • Inborn errors of immunity to infection: The rule rather than the exception
    • Casanova JL, Abel L. Inborn errors of immunity to infection: the rule rather than the exception. J Exp Med. 2005;202(2):197-201.
    • (2005) J Exp Med. , vol.202 , Issue.2 , pp. 197-201
    • Casanova, J.L.1    Abel, L.2
  • 8
    • 61849157792 scopus 로고    scopus 로고
    • X-linked lymphoproliferative disease (XLP): A model of impaired anti-viral, anti-tumor and humoral immune responses
    • Bassiri H, Janice Yeo WC, Rothman J, Koretzky GA, Nichols KE. X-linked lymphoproliferative disease (XLP): a model of impaired anti-viral, anti-tumor and humoral immune responses. Immunol Res. 2008;42:145-59.
    • (2008) Immunol Res. , vol.42 , pp. 145-159
    • Bassiri, H.1    Janice Yeo, W.C.2    Rothman, J.3    Koretzky, G.A.4    Nichols, K.E.5
  • 9
    • 33644931175 scopus 로고    scopus 로고
    • Complement and properidin deficiencies in meningococcal disease
    • Mathew S, Overturf GD. Complement and properidin deficiencies in meningococcal disease. Pediatr Infect Dis J. 2006;25:255-6.
    • (2006) Pediatr Infect Dis J. , vol.25 , pp. 255-256
    • Mathew, S.1    Overturf, G.D.2
  • 10
    • 33749430257 scopus 로고    scopus 로고
    • Genetics of epidermodysplasia verruciformis: Insights into host defense against papillomaviruses
    • Orth G. Genetics of epidermodysplasia verruciformis: insights into host defense against papillomaviruses. Semin Immunol. 2006;18:362-74.
    • (2006) Semin Immunol. , vol.18 , pp. 362-374
    • Orth, G.1
  • 11
    • 0037471003 scopus 로고    scopus 로고
    • Pyogenic bacterial infections in humans with IRAK-4 deficiency
    • Picard C, Puel A, Bonnet M, Ku CL, Bustamante J, Yang K, et al. Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science. 2003;299:2076-9.
    • (2003) Science. , vol.299 , pp. 2076-2079
    • Picard, C.1    Puel, A.2    Bonnet, M.3    Ku, C.L.4    Bustamante, J.5    Yang, K.6
  • 15
    • 79953284685 scopus 로고    scopus 로고
    • Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity
    • Puel A, Cypowyj S, Bustamante J, Wright JF, Liu L, Lim HK, et al. Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science. 2011;332:65-8.
    • (2011) Science. , vol.332 , pp. 65-68
    • Puel, A.1    Cypowyj, S.2    Bustamante, J.3    Wright, J.F.4    Liu, L.5    Lim, H.K.6
  • 18
    • 84892831186 scopus 로고    scopus 로고
    • Rare diseases
    • Accessed 11 Sept 2011
    • Rare diseases. In: Health-EU: The Public Health Portal of European Union. 2011. http://ec.europa.eu/health-eu/health-problems/rare-diseases/index-en.htm. Accessed 11 Sept 2011.
    • (2011) Health-EU: The Public Health Portal of European Union
  • 19
    • 84892782314 scopus 로고    scopus 로고
    • ESID database statistics, Accessed 26 Jan 2012
    • ESID database statistics. In: European Society for Immunodeficiencies. 2011. http://www.esid.org/statistics.php. Accessed 26 Jan 2012.
    • (2011) European Society for Immunodeficiencies
  • 20
    • 34548263269 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases in Australia and New Zealand
    • Kirkpatrick P, Riminton S. Primary immunodeficiency diseases in Australia and New Zealand. J Clin Immunol. 2007;27:517-24.
    • (2007) J Clin Immunol. , vol.27 , pp. 517-524
    • Kirkpatrick, P.1    Riminton, S.2
  • 21
    • 34548233320 scopus 로고    scopus 로고
    • Population prevalence of diagnosed primary immunodeficiency diseases in the United States
    • Boyle JM, Buckley RH. Population prevalence of diagnosed primary immunodeficiency diseases in the United States. J Clin Immunol. 2007;27:497-502.
    • (2007) J Clin Immunol. , vol.27 , pp. 497-502
    • Boyle, J.M.1    Buckley, R.H.2
  • 22
    • 58749107902 scopus 로고    scopus 로고
    • Incidence and temporal trends of primary immunodeficiency: A populationbased cohort study
    • Joshi AY, Iyer VN, Hagan JB, Sauver JLS, Boyce TG. Incidence and temporal trends of primary immunodeficiency: a populationbased cohort study. Mayo Clin Proc. 2009;84(1):16-22.
    • (2009) Mayo Clin Proc. , vol.84 , Issue.1 , pp. 16-22
    • Joshi, A.Y.1    Iyer, V.N.2    Hagan, J.B.3    Sauver, J.L.S.4    Boyce, T.G.5
  • 23
    • 77950611467 scopus 로고    scopus 로고
    • The French national registry of primary immunodeficiency diseases
    • CEREDIH: The French PID study group
    • CEREDIH: The French PID study group. The French national registry of primary immunodeficiency diseases. Clin Immunol. 2010;135:264-72.
    • (2010) Clin Immunol. , vol.135 , pp. 264-272
  • 25
    • 33751084044 scopus 로고    scopus 로고
    • Frequency and clinical manifestations of patients with primary immunodeficiency disorders in Iran: Update from the Iranian Primary Immunodeficiency Registry
    • Rezaei N, Aghamohammadi A, Moin M, Pourpak Z, Movahedi M, Gharagozlou M, et al. Frequency and clinical manifestations of patients with primary immunodeficiency disorders in Iran: update from the Iranian Primary Immunodeficiency Registry. J Clin Immunol. 2006;26(6):519-32.
    • (2006) J Clin Immunol. , vol.26 , Issue.6 , pp. 519-532
    • Rezaei, N.1    Aghamohammadi, A.2    Moin, M.3    Pourpak, Z.4    Movahedi, M.5    Gharagozlou, M.6
  • 27
    • 84892801958 scopus 로고    scopus 로고
    • Total number of patients in the USIDnet registry, Accessed 6 Feb 2012
    • Total number of patients in the USIDnet registry. In: US Immunodeficiency Network. 2004. http://www.usidnet.org/index.cfm. Accessed 6 Feb 2012.
    • (2004) US Immunodeficiency Network.
  • 28
    • 84892787646 scopus 로고    scopus 로고
    • Accessed 11 Sept 2011
    • African Society for Immunodeficiencies ASID. 2009. http://www.asid.ma. Accessed 11 Sept 2011.
    • (2009)
  • 29
    • 84857050426 scopus 로고    scopus 로고
    • Nationwide survey of patients with primary immunodeficiency diseases in Japan
    • Ishimura M, Takada H, Doi T, Imai K, Sasahara Y, Kanegane H, et al. Nationwide survey of patients with primary immunodeficiency diseases in Japan. J Clin Immunol. 2011;31:968-76.
    • (2011) J Clin Immunol. , vol.31 , pp. 968-976
    • Ishimura, M.1    Takada, H.2    Doi, T.3    Imai, K.4    Sasahara, Y.5    Kanegane, H.6
  • 30
    • 80053574800 scopus 로고    scopus 로고
    • Global study of primary immunodeficiency diseases (PI) diagnosis, treatment, and economic impact: An updated report from the Jeffrey Modell Foundation
    • Modell V, Gee B, Lewis DB, Orange JS, Roifman CM, Routes JM, et al. Global study of primary immunodeficiency diseases (PI) diagnosis, treatment, and economic impact: an updated report from the Jeffrey Modell Foundation. Immunol Res. 2011;51:61-70.
    • (2011) Immunol Res. , vol.51 , pp. 61-70
    • Modell, V.1    Gee, B.2    Lewis, D.B.3    Orange, J.S.4    Roifman, C.M.5    Routes, J.M.6
  • 32
    • 0013401756 scopus 로고    scopus 로고
    • SEER Stat Fact Sheets: Leukemia, Accessed 1 Aug 2011
    • SEER Stat Fact Sheets: Leukemia. In: Surveillance, Epidemiology, and End Results Program. 2010. http://seer.cancer.gov/statfacts/html/leuks.html. Accessed 1 Aug 2011.
    • (2010) Surveillance, Epidemiology, and End Results Program.
  • 34
    • 79952111520 scopus 로고    scopus 로고
    • The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: Evidence for a founder effect in the Moroccan population
    • Naamane H, El Maataoui O, Ailal F, Barakat A, Bennani S, Najib J, et al. The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population. Eur J Pediatr. 2010;169(9):1069-74.
    • (2010) Eur J Pediatr. , vol.169 , Issue.9 , pp. 1069-1074
    • Naamane, H.1    El Maataoui, O.2    Ailal, F.3    Barakat, A.4    Bennani, S.5    Najib, J.6
  • 35
    • 0036158322 scopus 로고    scopus 로고
    • Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds
    • Picard C, Fieschi C, Altare F, Al-Jumaah S, Al-Hajjar S, Feinberg J, et al. Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. Am J Hum Genet. 2002;70(2):336-48.
    • (2002) Am J Hum Genet. , vol.70 , Issue.2 , pp. 336-348
    • Picard, C.1    Fieschi, C.2    Altare, F.3    Al-Jumaah, S.4    Al-Hajjar, S.5    Feinberg, J.6
  • 36
    • 84869088825 scopus 로고    scopus 로고
    • A strong founder effect for a 10-bp deletion in the CD18 gene in North African leukocyte adhesion deficiency type i patients
    • Ben Mustapha I, Kammoun A, Mellouli F, Abdelmoula MS, Chemli J, Largueche B, et al. A strong founder effect for a 10-bp deletion in the CD18 gene in North African leukocyte adhesion deficiency type I patients. Clin Exp Immunol. 2008;154:105.
    • (2008) Clin Exp Immunol. , vol.154 , pp. 105
    • Ben Mustapha, I.1    Kammoun, A.2    Mellouli, F.3    Abdelmoula, M.S.4    Chemli, J.5    Largueche, B.6
  • 37
    • 34247172562 scopus 로고    scopus 로고
    • Carrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestry
    • Sanchez JJ, Monaghan G, Børsting C, Norbury G, Morling N, Gaspar HB. Carrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestry. Ann Hum Genet. 2006;71:336-47.
    • (2006) Ann Hum Genet. , vol.71 , pp. 336-347
    • Sanchez, J.J.1    Monaghan, G.2    Børsting, C.3    Norbury, G.4    Morling, N.5    Gaspar, H.B.6
  • 39
    • 57149142642 scopus 로고    scopus 로고
    • Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor beta1 deficiency and ataxia-telangiectasia
    • Ehlayel M, de Beaucoudrey L, Fike F, Nahas SA, Feinberg J, Casanova JL, Gatti RA. Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor beta1 deficiency and ataxia-telangiectasia. J Allergy Clin Immunol. 2008;122(6):1217-9.
    • (2008) J Allergy Clin Immunol. , vol.122 , Issue.6 , pp. 1217-1219
    • Ehlayel, M.1    De Beaucoudrey, L.2    Fike, F.3    Nahas, S.A.4    Feinberg, J.5    Casanova, J.L.6    Gatti, R.A.7
  • 41
    • 79955505659 scopus 로고    scopus 로고
    • Clinical features that identify children with primary immunodeficiency diseases
    • Subbarayan A, Colarusso G, Hughes SM, Gennery AR, Slatter M, Cant AJ, et al. Clinical features that identify children with primary immunodeficiency diseases. Pediatr. 2011;127(5):810-6.
    • (2011) Pediatr. , vol.127 , Issue.5 , pp. 810-816
    • Subbarayan, A.1    Colarusso, G.2    Hughes, S.M.3    Gennery, A.R.4    Slatter, M.5    Cant, A.J.6
  • 42
    • 82555179335 scopus 로고    scopus 로고
    • Ten warning signs of primary immunodeficiency: A new paradigm is needed for the 21st century
    • Arkwright PD, Gennery AR. Ten warning signs of primary immunodeficiency: a new paradigm is needed for the 21st century. Ann NY Acad Sci. 2011;1238:7-14.
    • (2011) Ann NY Acad Sci. , vol.1238 , pp. 7-14
    • Arkwright, P.D.1    Gennery, A.R.2
  • 43
    • 29144484290 scopus 로고    scopus 로고
    • Tuberculosis in children and adults: Two distinct genetic diseases
    • Alcais A, Fieschi C, Abel L, Casanova JL. Tuberculosis in children and adults: two distinct genetic diseases. J Exp Med. 2005;202:1617-21.
    • (2005) J Exp Med. , vol.202 , pp. 1617-1621
    • Alcais, A.1    Fieschi, C.2    Abel, L.3    Casanova, J.L.4


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