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

Journal of Clinical Immunology

Volumn 34, Issue 8, 2014, Pages 954-961

  Kobrynski, Lisa ^a   Powell, Rachel Waltenburg ^b   Bowen, Scott ^b  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NATIONAL CENTER ON BIRTH DEFECTS AND DEVELOPMENTAL DISABILITIES   (United States)

Author keywords

epidemiology; genetic diseases; immunology; prevalence; Primary immunodeficiency

Indexed keywords

ADULT; AGED; ARTICLE; AWARENESS; B LYMPHOCYTE; BLACK PERSON; CAUCASIAN; CHILD; COMMON VARIABLE IMMUNODEFICIENCY; DATA BASE; FEMALE; HEALTH INSURANCE; HISPANIC; HOSPITALIZATION; HUMAN; IMMUNE DEFICIENCY; IMMUNOGLOBULIN DEFICIENCY; MAJOR CLINICAL STUDY; MALE; MEDICAID; MORBIDITY; OUTPATIENT; PREVALENCE; REGISTER; UNITED STATES; ADOLESCENT; ANCESTRY GROUP; FACTUAL DATABASE; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; MIDDLE AGED; MORTALITY; PATHOPHYSIOLOGY; PRESCHOOL CHILD; RETROSPECTIVE STUDY; RISK FACTOR;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CONTINENTAL POPULATION GROUPS; DATABASES, FACTUAL; FEMALE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; MALE; MIDDLE AGED; PREVALENCE; RETROSPECTIVE STUDIES; RISK FACTORS; UNITED STATES;

EID: 84911998725     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-014-0102-8     Document Type: Article

References (41)

1. Stadtmauer G, Cunningham-Rundles C. Outcome analysis and cost assessment in immunologic disorders. JAMA. 1997;278(22):2018–23.
2. Baumgart KW, Britton WJ, Kemp A, et al. The spectrum of primary immunodeficiency disorders in Australia. J Allergy Clin Immunol. 1997;100:415–23.
3. 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.
4. Fasth A. Primary immunodeficiency disorders in Sweden: cases among children, 1974–1979. J Clin Immunol. 1982;2:86–92.
5. 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.
6. Geller-Bernstein C, Etzioni A. Pediatric allergy and immunology in Israel. Ped All Immunol. 2013;24:187–94.
7. 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.
8. Kirkpatrick P, Riminton S. Primary immunodeficiency diseases in Australia and New Zealand. J Clin Immunol. 2007;27(5):517–24.
9. 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.
10. Stray-Pedersen A, Abrahamsen TG, Frøland SS. Primary immunodeficiency diseases in Norway. J Clin Immunol. 2006;20(6):477–85.
11. 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.
12. Boyle JM, Buckley RH. Population prevalence of diagnosed primary immunodeficiency diseases in the United States. J Clin Immunol. 2007;27(5):497–502.
13. CEREDIH: The French PID study group. The French national registry of primary immunodeficiency diseases. Clin Immunol. 2010;135(2):264–72.
14. 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.
15. 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.
16. 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.
17. 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.
18. Yarmohammadi H, Estrella L, Doucette J, Cunningham-Rundles C. Recognizing primary immunodeficiencies in clinical practice. Clin Vacc Immunol. 2006;13:329–32.
19. 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.
20. Bousfiha AA, Jeddane L, Ailal F, et al. Primary immunodeficiency diseases worldwide: more common than generally thought. J Clin Immun. 2013;33:1–7.
21. 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.
22. 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.
23. 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.
24. U.S. Census Bureau. Profile of general demographic characteristics: 2005. http://www.census.gov/popest/datasets/demographic_profile/0_United_States/2kh00.pdf, Accessed August 10, 2014.
25. Gathmann B, Goldacker S, Klima M, et al. German national registry for primary immunodeficiencies (PID). Clin Exp Immunol. 2013;173(2):372–80.
26. Champi C. Primary immunodeficiency disorders in children: prompt diagnosis can lead to lifesaving treatment. J Pediatr Health Care. 2003;16(1):6–21.
27. Cunningham-Rundles C, Bodian L. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol. 1999;92(1):34–48.
28. 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.
29. 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.
30. 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.
31. 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.
32. Cunningham-Rundles C. Clinical and immunologic analyses of 103 patients with common variable immunodeficiency. J Clin Immunol. 1989;9(1):22–33.
33. Buckley RH. Variable phenotypic expression of mutations in genes of the immune system. J Clin Invest. 2005;115:2974.
34. 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.
35. 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.
36. Pai S, Logan BR, Griffith LM, et al. Transplantation outcomes for severe combined immunodeficiency, 2000–2009. N Engl J Med. 2014;371:434–46.
37. 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.
38. 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.
39. 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.
40. 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.
41. 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.