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Distribution and Clinical Features of Primary Immunodeficiency Diseases in Chinese Children (2004–2009)

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Abstract

Two hundred and one patients have been diagnosed with primary immunodeficiency diseases (PIDs) in our center from January 2004 to December 2009. The male-to-female ratio was 5.29:1. Spectrums of PIDs were as follows: predominantly antibody deficiency disease was the most common category (94 patients, 48.2%), followed by other well-defined immunodeficiency syndromes (40 patients, 20.5%), combined T and B cell immunodeficiencies (33 patients, 16.9%), congenital defects of phagocyte number and/or function (21 patients, 10.8%), and diseases of immune dysregulation (six patients, 3.1%). Agammaglobulinemia was the most frequent disease type. The median of diagnosis lag was 18.0 months. Pneumonia was the most common manifestation of PID patients. Some manifestations were prone to concentrate in certain diseases. As for therapy, 99 patients (50.8%) received intravenous immunoglobulin replacement therapy; 13 patients received hematopoietic stem cell transplantation and nine of them were still alive. In this study, we sought to describe and analyze the distribution, clinical features, and therapy methods of PIDs among children diagnosed in our country and to compare with reports from other countries and regions.

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Abbreviations

CGD:

Chronic granulomatous disease

CHS:

Chediak-Higashi syndrome

CVID:

Common variable immunodeficiency disorder

ESID:

European society for immunodeficiency

HIGM:

Hyper-IgM syndrome

HSCT:

Hematopoietic stem cell transplantation

IBD:

Inflammatory bowel disease

IUIS:

International Union of Immunological Societies

IVIG:

Intravenous immunoglobulin

PID:

Primary immunodeficiency disease

SCID:

Severe combined immunodeficiency

SLE:

Systermic lupus erythematosus

WAS:

Wiskott-Aldrich syndrome

XLA:

X-linked agammaglobulinemia

References

  1. Rezaei N, Aghamohammadi A, Moin 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;26:519–32.

    Article  PubMed  Google Scholar 

  2. Geha RS, Notarangelo LD, Casanova JL, et al. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol. 2007;120:776–94.

    Article  PubMed  Google Scholar 

  3. Leiva LE, Zelazco M, Oleastro M, et al. Primary immunodeficiency diseases in Latin America: the second report of the LAGID registry. J Clin Immunol. 2007;27:101–8.

    Article  PubMed  Google Scholar 

  4. Gathmann B, Grimbacher B, Beaute J, et al. The European internet-based patient and research database for primary immunodeficiencies: results 2006–2008. Clin Exp Immunol. 2009;157 Suppl 1:3–11.

    Article  PubMed  Google Scholar 

  5. Al-Herz W. Primary immunodeficiency disorders in Kuwait: first report from Kuwait National Primary Immunodeficiency Registry (2004–2006). J Clin Immunol. 2008;28:186–93.

    Article  PubMed  Google Scholar 

  6. Kirkpatrick P, Riminton S. Primary immunodeficiency diseases in Australia and New Zealand. J Clin Immunol. 2007;27:517–24.

    Article  PubMed  CAS  Google Scholar 

  7. Lim DL, Thong BY, Ho SY, et al. Primary immunodeficiency diseases in Singapore—the last 11 years. Singap Med J. 2003;44:579–86.

    CAS  Google Scholar 

  8. Hayakawa H, Iwata T, Yata J, Kobayashi N. Primary immunodeficiency syndrome in Japan. I. Overview of a nationwide survey on primary immunodeficiency syndrome. J Clin Immunol. 1981;1:31–9.

    Article  PubMed  CAS  Google Scholar 

  9. Lee WI, Kuo ML, Huang JL, Lin SJ, Wu CJ. Distribution and clinical aspects of primary immunodeficiencies in a Taiwan pediatric tertiary hospital during a 20-year period. J Clin Immunol. 2005;25:162–73.

    Article  PubMed  Google Scholar 

  10. Al-Attas RA, Rahi AH. Primary antibody deficiency in Arabs: first report from eastern Saudi Arabia. J Clin Immunol. 1998;18:368–71.

    Article  PubMed  CAS  Google Scholar 

  11. Zhan YZ, Yang XQ. Clinical investigation of 135 primary immunodeficiency disorders in children. Chin J Pract Pediatr. 2009;24:132–4.

    Google Scholar 

  12. Lee PP, Chen TX, Jiang LP, et al. Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia. J Clin Immunol. 2010;30:121–31.

    Article  PubMed  CAS  Google Scholar 

  13. Lee PP, Lau YL. Primary immunodeficiencies: “new” disease in an old country. Cell Mol Immunol. 2009;6:397–406.

    Article  PubMed  CAS  Google Scholar 

  14. Notarangelo LD, Fischer A, Geha RS, et al. Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol. 2009;124:1161–78.

    Article  PubMed  CAS  Google Scholar 

  15. National Bureau of Statistics of China. The 5th National Consus. http://www.stats.gov.cn/. 2001

  16. Radovanovic Z, Shah N, Behbehani J. Prevalence and social correlates to consanguinity in Kuwait. Ann Saudi Med. 1999;19:206–10.

    PubMed  CAS  Google Scholar 

  17. Saadat M, Ansari-Lari M, Farhud DD. Consanguineous marriage in Iran. Ann Hum Biol. 2004;31:263–9.

    Article  PubMed  CAS  Google Scholar 

  18. Primary immunodeficiency disease in America: 2007, the third national survey of patients.

  19. Boyle JM, Buckley RH. Population prevalence of diagnosed primary immunodeficiency diseases in the United States. J Clin Immunol. 2007;27:497–502.

    Article  PubMed  CAS  Google Scholar 

  20. Matamoros FN, Mila LJ, Espanol BT, Raga BS, Fontan CG. Primary immunodeficiency syndrome in Spain: first report of the National Registry in Children and Adults. J Clin Immunol. 1997;17:333–9.

    Article  Google Scholar 

  21. Herriot R, Sewell WA. Antibody deficiency. J Clin Pathol. 2008;61:994–1000.

    Article  PubMed  CAS  Google Scholar 

  22. Winkelstein JA, Marino MC, Lederman HM, et al. X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine (Baltimore). 2006;85:193–202.

    Article  Google Scholar 

  23. Glocker E, Ehl S, Grimbacher B. Common variable immunodeficiency in children. Curr Opin Pediatr. 2007;19:685–92.

    Article  PubMed  Google Scholar 

  24. Yel L. Selective IgA deficiency. J Clin Immunol. 2010;30:10–6.

    Article  PubMed  CAS  Google Scholar 

  25. Reda SM, Afifi HM, Amine MM. Primary immunodeficiency diseases in Egyptian children: a single-center study. J Clin Immunol. 2009;29:343–51.

    Article  PubMed  Google Scholar 

  26. Primary Immunodeficiency Database in Japan. http://pidj.rcai.riken.jp/public_shoureisu.html.

  27. ESID. http://www.esid.org/statistics.php?sub=5.

  28. Ballow M. Primary immunodeficiency disorders: antibody deficiency. J Allergy Clin Immunol. 2002;109:581–91.

    Article  PubMed  CAS  Google Scholar 

  29. 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;147:306–12.

    Article  PubMed  Google Scholar 

  30. Casanova JL, Fieschi C, Bustamante J, et al. From idiopathic infectious diseases to novel primary immunodeficiencies. J Allergy Clin Immunol. 2005;116:426–30.

    Article  PubMed  CAS  Google Scholar 

  31. Plebani A, Soresina A, Rondelli R, et al. Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study. Clin Immunol. 2002;104:221–30.

    Article  PubMed  CAS  Google Scholar 

  32. Chun JK, Lee TJ, Song JW, Linton JA, Kim DS. Analysis of clinical presentations of Bruton disease: a review of 20 years of accumulated data from pediatric patients at Severance Hospital. Yonsei Med J. 2008;49:28–36.

    Article  PubMed  CAS  Google Scholar 

  33. de Vries E. Patient-centred screening for primary immunodeficiency: a multi-stage diagnostic protocol designed for non-immunologists. Clin Exp Immunol. 2006;145:204–14.

    Article  PubMed  Google Scholar 

  34. Gu Heng YL, Yongshen L: Survey on the prevalence of childhood atopic dermatitis in ten cities of China. Chinese Journal of Dermatology 37:29–31, 2004

    Google Scholar 

  35. Pons-Estel GJ, Alarcon GS, Scofield L, Reinlib L, Cooper GS. Understanding the epidemiology and progression of systemic lupus erythematosus. Semin Arthritis Rheum. 2010;39:257–68.

    Article  PubMed  Google Scholar 

  36. Huang JL, Yao TC, See LC. Prevalence of pediatric systemic lupus erythematosus and juvenile chronic arthritis in a Chinese population: a nation-wide prospective population-based study in Taiwan. Clin Exp Rheumatol. 2004;22:776–80.

    PubMed  CAS  Google Scholar 

  37. McKenzie BS, Kastelein RA, Cua DJ. Understanding the IL-23-IL-17 immune pathway. Trends Immunol. 2006;27:17–23.

    Article  PubMed  CAS  Google Scholar 

  38. Bouma G, Strober W. The immunological and genetic basis of inflammatory bowel disease. Nat Rev Immunol. 2003;3:521–33.

    Article  PubMed  CAS  Google Scholar 

  39. Ooi CJ, Fock KM, Makharia GK, et al. The Asia-Pacific consensus on ulcerative colitis. J Gastroenterol Hepatol. 2010;25:453–68.

    Article  PubMed  CAS  Google Scholar 

  40. Kugathasan S, Judd RH, Hoffmann RG, et al. Epidemiologic and clinical characteristics of children with newly diagnosed inflammatory bowel disease in Wisconsin: a statewide population-based study. J Pediatr. 2003;143:525–31.

    Article  PubMed  Google Scholar 

  41. Sawczenko A, Sandhu BK, Logan RF, et al. Prospective survey of childhood inflammatory bowel disease in the British Isles. Lancet. 2001;357:1093–4.

    Article  PubMed  CAS  Google Scholar 

  42. Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol. 1999;92:34–48.

    Article  PubMed  CAS  Google Scholar 

  43. Salzer U, Maul-Pavicic A, Cunningham-Rundles C, et al. ICOS deficiency in patients with common variable immunodeficiency. Clin Immunol. 2004;113:234–40.

    Article  PubMed  CAS  Google Scholar 

  44. Quinti I, Soresina A, Spadaro G, et al. Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency. J Clin Immunol. 2007;27:308–16.

    Article  PubMed  Google Scholar 

  45. Gompels MM, Hodges E, Lock RJ, et al. Lymphoproliferative disease in antibody deficiency: a multi-centre study. Clin Exp Immunol. 2003;134:314–20.

    Article  PubMed  CAS  Google Scholar 

  46. Chapel H, Cunningham-Rundles C. Update in understanding common variable immunodeficiency disorders (CVIDs) and the management of patients with these conditions. Br J Haematol. 2009;145:709–27.

    Article  PubMed  CAS  Google Scholar 

  47. Dvorak CC, Cowan MJ. Hematopoietic stem cell transplantation for primary immunodeficiency disease. Bone Marrow Transplant. 2008;41:119–26.

    Article  PubMed  CAS  Google Scholar 

  48. Tsuji Y, Imai K, Kajiwara M, et al. Hematopoietic stem cell transplantation for 30 patients with primary immunodeficiency diseases: 20 years experience of a single team. Bone Marrow Transplant. 2006;37:469–77.

    Article  PubMed  CAS  Google Scholar 

  49. Grunebaum E, Mazzolari E, Porta F, et al. Bone marrow transplantation for severe combined immune deficiency. JAMA. 2006;295:508–18.

    Article  PubMed  CAS  Google Scholar 

  50. Lee WI, Jaing TH, Huang JL. Distribution, infections, treatments and molecular analysis in a large cohort of patients with primary immunodeficiency diseases (PIDs) in Taiwan. J Clin Immunol. 2006;26:274–83.

    Article  PubMed  Google Scholar 

  51. The French PID study group. The French national registry of primary immunodeficiency diseases. Clin Immunol. 2010;135:264–72.

    Article  Google Scholar 

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Acknowledgments

We thank all the patients and their families for their kindness for permission, and we also thank their physicians who first treated and then referred them to our center.

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Authors and Affiliations

  1. Department of Pediatrics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China

    Lin-Lin Wang, Ying-Ying Jin, Juan-Juan Wang, Chun-Mei Yao, Hui Zhang, Yi Chen & Tong-Xin Chen

  2. Department of Immunology, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China

    Yi-Qun Hao, Xi Wang, Rui-Ming Cao & Tong-Xin Chen

  3. Department of Pediatrics, Xinhua Hospital, Shanghai Institute for Pediatrics Research, Shanghai Jiao Tong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China

    Tong-Xin Chen

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  1. Lin-Lin Wang
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Correspondence to Tong-Xin Chen.

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Wang, LL., Jin, YY., Hao, YQ. et al. Distribution and Clinical Features of Primary Immunodeficiency Diseases in Chinese Children (2004–2009). J Clin Immunol 31, 297–308 (2011). https://doi.org/10.1007/s10875-010-9493-3

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  • DOI: https://doi.org/10.1007/s10875-010-9493-3

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