Skip to main content
Top
Published in: Journal of Clinical Immunology 8/2014

01-11-2014 | Original Research

Prevalence and Morbidity of Primary Immunodeficiency Diseases, United States 2001–2007

Authors: Lisa Kobrynski, Rachel Waltenburg Powell, Scott Bowen

Published in: Journal of Clinical Immunology | Issue 8/2014

Login to get access

Abstract

Purpose

Few studies have estimated population prevalence and morbidity of primary immunodeficiency diseases (PIDD). We used administrative healthcare databases to estimate the prevalence of PIDD diagnoses in the United States from 2001 to 2007.

Methods

MarketScan databases compile claims from commercial health insurance plans and Medicaid, recording individual diagnoses for outpatient encounters and hospital stays. We used a cross sectional survey to estimate prevalence of PIDD using related ICD-9 codes (279.0, 279.1, 279.2, 279.8, 279.9, 288.1 and 288.2). Persons with secondary immunodeficiency diagnoses were excluded from analysis.

Results

Between 2001 and 2007, prevalence of any PIDD diagnosis increased from 38.9 to 50.5 per 100,000 among privately insured and from 29.1 to 41.1 per 100,000 among publicly insured persons. B cell defects predominated. Prevalence was more than twice as high among Whites as among Blacks or Hispanics.

Conclusion

In this large database, we found a higher prevalence of diagnosed PIDD than has been reported previously from registries. Increased awareness may have contributed to the increasing prevalence.
Appendix
Available only for authorised users
Literature
1.
go back to reference Stadtmauer G, Cunningham-Rundles C. Outcome analysis and cost assessment in immunologic disorders. JAMA. 1997;278(22):2018–23.PubMedCrossRef Stadtmauer G, Cunningham-Rundles C. Outcome analysis and cost assessment in immunologic disorders. JAMA. 1997;278(22):2018–23.PubMedCrossRef
2.
go back to reference Baumgart KW, Britton WJ, Kemp A, et al. The spectrum of primary immunodeficiency disorders in Australia. J Allergy Clin Immunol. 1997;100:415–23.PubMedCrossRef Baumgart KW, Britton WJ, Kemp A, et al. The spectrum of primary immunodeficiency disorders in Australia. J Allergy Clin Immunol. 1997;100:415–23.PubMedCrossRef
3.
go back to reference Eades-Perner AM, Gathmann B, Knerr V, et al. The European internet-based patient and research database for primary immunodeficiencies: results 2004–06. Clin Exp Immunol. 2007;147(2):306–12.PubMedCentralPubMedCrossRef Eades-Perner AM, Gathmann B, Knerr V, et al. The European internet-based patient and research database for primary immunodeficiencies: results 2004–06. Clin Exp Immunol. 2007;147(2):306–12.PubMedCentralPubMedCrossRef
4.
go back to reference Fasth A. Primary immunodeficiency disorders in Sweden: cases among children, 1974–1979. J Clin Immunol. 1982;2:86–92.PubMedCrossRef Fasth A. Primary immunodeficiency disorders in Sweden: cases among children, 1974–1979. J Clin Immunol. 1982;2:86–92.PubMedCrossRef
5.
go back to reference Gathmann B, Grimbacher B, Beauté J, et al. The European internet-based patient and research database for primary immunodeficiencies: results 2006–2008. Clin Exp Immunol. 2009;157:3–11.PubMedCentralPubMedCrossRef Gathmann B, Grimbacher B, Beauté J, et al. The European internet-based patient and research database for primary immunodeficiencies: results 2006–2008. Clin Exp Immunol. 2009;157:3–11.PubMedCentralPubMedCrossRef
6.
go back to reference Geller-Bernstein C, Etzioni A. Pediatric allergy and immunology in Israel. Ped All Immunol. 2013;24:187–94.CrossRef Geller-Bernstein C, Etzioni A. Pediatric allergy and immunology in Israel. Ped All Immunol. 2013;24:187–94.CrossRef
7.
go back to reference Ishimura M, Takada H, Doi T, et al. Nationwide survey of patients with primary immunodeficiency diseases in Japan. J Clin Immunol. 2011;31(6):968–76.PubMedCrossRef Ishimura M, Takada H, Doi T, et al. Nationwide survey of patients with primary immunodeficiency diseases in Japan. J Clin Immunol. 2011;31(6):968–76.PubMedCrossRef
8.
go back to reference Kirkpatrick P, Riminton S. Primary immunodeficiency diseases in Australia and New Zealand. J Clin Immunol. 2007;27(5):517–24.PubMedCrossRef Kirkpatrick P, Riminton S. Primary immunodeficiency diseases in Australia and New Zealand. J Clin Immunol. 2007;27(5):517–24.PubMedCrossRef
9.
go back to reference Lee WI, Huang JL, Jaing TH, et al. Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiencies (PIDs) in a nationwide population based study during 1985–2010. Immunobiology. 2011;216(12):1286–94.PubMedCrossRef Lee WI, Huang JL, Jaing TH, et al. Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiencies (PIDs) in a nationwide population based study during 1985–2010. Immunobiology. 2011;216(12):1286–94.PubMedCrossRef
10.
go back to reference Stray-Pedersen A, Abrahamsen TG, Frøland SS. Primary immunodeficiency diseases in Norway. J Clin Immunol. 2006;20(6):477–85.CrossRef Stray-Pedersen A, Abrahamsen TG, Frøland SS. Primary immunodeficiency diseases in Norway. J Clin Immunol. 2006;20(6):477–85.CrossRef
11.
go back to reference Joshi AY, Iyer VN, Hagan JB, et al. Incidence and temporal trends of primary immunodeficiency: a population-based cohort study. Mayo Clin Proc. 2009;84(1):16–22.PubMedCentralPubMedCrossRef Joshi AY, Iyer VN, Hagan JB, et al. Incidence and temporal trends of primary immunodeficiency: a population-based cohort study. Mayo Clin Proc. 2009;84(1):16–22.PubMedCentralPubMedCrossRef
12.
go back to reference Boyle JM, Buckley RH. Population prevalence of diagnosed primary immunodeficiency diseases in the United States. J Clin Immunol. 2007;27(5):497–502.PubMedCrossRef Boyle JM, Buckley RH. Population prevalence of diagnosed primary immunodeficiency diseases in the United States. J Clin Immunol. 2007;27(5):497–502.PubMedCrossRef
13.
go back to reference CEREDIH: The French PID study group. The French national registry of primary immunodeficiency diseases. Clin Immunol. 2010;135(2):264–72.CrossRef CEREDIH: The French PID study group. The French national registry of primary immunodeficiency diseases. Clin Immunol. 2010;135(2):264–72.CrossRef
14.
go back to reference Leiva LZ, Zelazco M, Oleastro M, et al. Primary immunodeficiency diseases in Latin america: the second report of the LAGID registry. J Clin Immunol. 1997;27:101–8.CrossRef Leiva LZ, Zelazco M, Oleastro M, et al. Primary immunodeficiency diseases in Latin america: the second report of the LAGID registry. J Clin Immunol. 1997;27:101–8.CrossRef
15.
go back to reference Winkelstein JA, Marino MC, Johnston RB, et al. Chronic granulomatous disease: a report on a national registry of 368 patients. Medicine. 2000;79(3):155–69.PubMedCrossRef Winkelstein JA, Marino MC, Johnston RB, et al. Chronic granulomatous disease: a report on a national registry of 368 patients. Medicine. 2000;79(3):155–69.PubMedCrossRef
16.
go back to reference Winkelstein JA, Marino MC, Ochs H, et al. The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. Medicine. 2003;82:373–84.PubMedCrossRef Winkelstein JA, Marino MC, Ochs H, et al. The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. Medicine. 2003;82:373–84.PubMedCrossRef
17.
go back to reference Winkelstein JA, Marino M, Lederman H, et al. X-linked agammaglobulinemia: report on a united states registry of 201 patients. Medicine. 2006;85:193–207.PubMedCrossRef Winkelstein JA, Marino M, Lederman H, et al. X-linked agammaglobulinemia: report on a united states registry of 201 patients. Medicine. 2006;85:193–207.PubMedCrossRef
18.
go back to reference Yarmohammadi H, Estrella L, Doucette J, Cunningham-Rundles C. Recognizing primary immunodeficiencies in clinical practice. Clin Vacc Immunol. 2006;13:329–32.CrossRef Yarmohammadi H, Estrella L, Doucette J, Cunningham-Rundles C. Recognizing primary immunodeficiencies in clinical practice. Clin Vacc Immunol. 2006;13:329–32.CrossRef
19.
go back to reference Edgar JDM, Buckland M, Guzman D, et al. The United Kingdom primary immune deficiency (IKPID) registry: report of the first 4 years’ activity 2008–2012. Clin Exp Immunol. 2013;175:68–78.CrossRef Edgar JDM, Buckland M, Guzman D, et al. The United Kingdom primary immune deficiency (IKPID) registry: report of the first 4 years’ activity 2008–2012. Clin Exp Immunol. 2013;175:68–78.CrossRef
20.
go back to reference Bousfiha AA, Jeddane L, Ailal F, et al. Primary immunodeficiency diseases worldwide: more common than generally thought. J Clin Immun. 2013;33:1–7.PubMedCrossRef Bousfiha AA, Jeddane L, Ailal F, et al. Primary immunodeficiency diseases worldwide: more common than generally thought. J Clin Immun. 2013;33:1–7.PubMedCrossRef
21.
go back to reference Baker MW, Laessig RH, Katcher ML, et al. Implementing routine testing for severe combined immunodeficiency within Wisconsin’s newborn screening program. Public Health Rep. 2010;125(S2):88–95.PubMedCentralPubMed Baker MW, Laessig RH, Katcher ML, et al. Implementing routine testing for severe combined immunodeficiency within Wisconsin’s newborn screening program. Public Health Rep. 2010;125(S2):88–95.PubMedCentralPubMed
22.
go back to reference Gerstel-Thompson JL, Wilkey JF, Baptiste JC, et al. High-throughput multiplexed T-cell-receptor excision circle quantitative PCR assay with internal controls for detection of Severe Combined Immunodeficiency in population based newborn screening. Clin Chem. 2010;56(9):1466–74.PubMedCrossRef Gerstel-Thompson JL, Wilkey JF, Baptiste JC, et al. High-throughput multiplexed T-cell-receptor excision circle quantitative PCR assay with internal controls for detection of Severe Combined Immunodeficiency in population based newborn screening. Clin Chem. 2010;56(9):1466–74.PubMedCrossRef
23.
go back to reference Kwan A, Abraham RS, Currier R, et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the united states. JAMA. 2014;312(7):729–38.PubMedCrossRef Kwan A, Abraham RS, Currier R, et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the united states. JAMA. 2014;312(7):729–38.PubMedCrossRef
25.
26.
go back to reference Champi C. Primary immunodeficiency disorders in children: prompt diagnosis can lead to lifesaving treatment. J Pediatr Health Care. 2003;16(1):6–21. Champi C. Primary immunodeficiency disorders in children: prompt diagnosis can lead to lifesaving treatment. J Pediatr Health Care. 2003;16(1):6–21.
27.
go back to reference Cunningham-Rundles C, Bodian L. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol. 1999;92(1):34–48.PubMedCrossRef Cunningham-Rundles C, Bodian L. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol. 1999;92(1):34–48.PubMedCrossRef
28.
go back to reference Lindegren ML, Kobrynski L, Rasmussen S, et al. Applying public health strategies to primary immunodeficiency diseases: a potential approach to genetic disorders. MMWR Recomm Rep. 2004;53(RR-1):1–29.PubMed Lindegren ML, Kobrynski L, Rasmussen S, et al. Applying public health strategies to primary immunodeficiency diseases: a potential approach to genetic disorders. MMWR Recomm Rep. 2004;53(RR-1):1–29.PubMed
29.
go back to reference Waltenburg R, Kobrynski L, Reyes M, Bowen S, Khoury MJ. Primary immunodeficiency diseases: practice and awareness among the general public, United States, 2008. Genet Med. 2010;12:792–800.PubMedCrossRef Waltenburg R, Kobrynski L, Reyes M, Bowen S, Khoury MJ. Primary immunodeficiency diseases: practice and awareness among the general public, United States, 2008. Genet Med. 2010;12:792–800.PubMedCrossRef
30.
go back to reference AAP position statement. The changing concept of sudden infant death syndrome: diagnostic coding shifts, controversies regarding the sleeping environment, and new variables to consider in reducing risk. Pediatr. 2005;116(5):1245–55.CrossRef AAP position statement. The changing concept of sudden infant death syndrome: diagnostic coding shifts, controversies regarding the sleeping environment, and new variables to consider in reducing risk. Pediatr. 2005;116(5):1245–55.CrossRef
31.
go back to reference de Vries E, the European Society for Immunodeficiencies (ESID) members. Patient-centered screening for primary immunodeficiency: a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. Clin Exp Immunol. 2011;167:108–19.CrossRef de Vries E, the European Society for Immunodeficiencies (ESID) members. Patient-centered screening for primary immunodeficiency: a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. Clin Exp Immunol. 2011;167:108–19.CrossRef
32.
go back to reference Cunningham-Rundles C. Clinical and immunologic analyses of 103 patients with common variable immunodeficiency. J Clin Immunol. 1989;9(1):22–33.PubMedCrossRef Cunningham-Rundles C. Clinical and immunologic analyses of 103 patients with common variable immunodeficiency. J Clin Immunol. 1989;9(1):22–33.PubMedCrossRef
34.
go back to reference Antoine C, Muller S, Cant A, et al. Long-term survival and transplantation of haematopoietic stem cells for immunodeficiencies: report of the European experience 1968–99. Lancet. 2003;361(9357):553–60.PubMedCrossRef Antoine C, Muller S, Cant A, et al. Long-term survival and transplantation of haematopoietic stem cells for immunodeficiencies: report of the European experience 1968–99. Lancet. 2003;361(9357):553–60.PubMedCrossRef
35.
go back to reference Myers LA, Patel DD, Puck JM, Buckley RH. Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood. 2002;99(3):872–8.PubMedCrossRef Myers LA, Patel DD, Puck JM, Buckley RH. Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood. 2002;99(3):872–8.PubMedCrossRef
36.
go back to reference Pai S, Logan BR, Griffith LM, et al. Transplantation outcomes for severe combined immunodeficiency, 2000–2009. N Engl J Med. 2014;371:434–46.PubMedCrossRef Pai S, Logan BR, Griffith LM, et al. Transplantation outcomes for severe combined immunodeficiency, 2000–2009. N Engl J Med. 2014;371:434–46.PubMedCrossRef
37.
go back to reference Resnick ES, Bhatt P, Sidi P, Cunningham-Rundles C. Examining the use of ICD-9 diagnosis codes for primary immune deficiency diseases in New York state. J Clin Immunol. 2013;33:40–8.PubMedCentralPubMedCrossRef Resnick ES, Bhatt P, Sidi P, Cunningham-Rundles C. Examining the use of ICD-9 diagnosis codes for primary immune deficiency diseases in New York state. J Clin Immunol. 2013;33:40–8.PubMedCentralPubMedCrossRef
38.
go back to reference Cunningham-Rundles C, Sidi P, Estrella L, Doucette J. Identifying undiagnosed primary immunodeficiency diseases in minority subjects using computer sorting of diagnosis codes. J Allergy Clin Immunol. 2004;113:747–56.PubMedCrossRef Cunningham-Rundles C, Sidi P, Estrella L, Doucette J. Identifying undiagnosed primary immunodeficiency diseases in minority subjects using computer sorting of diagnosis codes. J Allergy Clin Immunol. 2004;113:747–56.PubMedCrossRef
39.
go back to reference Kwan A, Church J, Cowan M, et al. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. J Allergy Clin Immunol. 2013;132:140–50.PubMedCentralPubMedCrossRef Kwan A, Church J, Cowan M, et al. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. J Allergy Clin Immunol. 2013;132:140–50.PubMedCentralPubMedCrossRef
40.
go back to reference Vogel B, Bonagura V, Weinberg GA. Newborn screening for SCID in New York state: experience from the first 2 years. J Clin Immunol. 2014;34:289–303.PubMedCentralPubMedCrossRef Vogel B, Bonagura V, Weinberg GA. Newborn screening for SCID in New York state: experience from the first 2 years. J Clin Immunol. 2014;34:289–303.PubMedCentralPubMedCrossRef
41.
go back to reference Park M, Li J, Hagan J, Maddox D, Abraham R. Common variable immunodeficiency: a new look at an old disease. Lancet. 2008;372:489–502.PubMedCrossRef Park M, Li J, Hagan J, Maddox D, Abraham R. Common variable immunodeficiency: a new look at an old disease. Lancet. 2008;372:489–502.PubMedCrossRef
Metadata
Title
Prevalence and Morbidity of Primary Immunodeficiency Diseases, United States 2001–2007
Authors
Lisa Kobrynski
Rachel Waltenburg Powell
Scott Bowen
Publication date
01-11-2014
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 8/2014
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-014-0102-8

Other articles of this Issue 8/2014

Journal of Clinical Immunology 8/2014 Go to the issue