Primary immunodeficiencies: "New" disease in an old country

Cellular and Molecular Immunology

Volumn 6, Issue 6, 2009, Pages 397-406

  Lee, Pamela P W ^a   Lau, Yu Lung ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

China; Development; Immunodeficiencies; Primary immunodeficiency disorders; Research

Indexed keywords

GAMMA INTERFERON; INTERLEUKIN 12; GAMMA INTERFERON RECEPTOR 1; I KAPPA B KINASE GAMMA; INTERLEUKIN 12 RECEPTOR BETA1; INTERLEUKIN 12P40; PROTEIN KINASE TYK2; STAT1 PROTEIN;

ALLERGY; AUTOIMMUNITY; BIOINFORMATICS; CHINA; CHRONIC GRANULOMATOUS DISEASE; DATA ANALYSIS; DIAGNOSTIC TEST; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; HEALTH PROGRAM; HUMAN; HYPER IMMUNOGLOBULIN M SYNDROME; IMMUNE DEFICIENCY; IMMUNOGLOBULIN M DEFICIENCY; INFECTION; LEUKOCYTE ADHESION DEFICIENCY; LYMPHOCYTE PROLIFERATION; MEDICAL RESEARCH; NEOPLASM; PATIENT CARE; PHENOTYPE; PRIMARY IMMUNODEFICIENCY DISORDER; REVIEW; SEVERE COMBINED IMMUNODEFICIENCY; WISKOTT ALDRICH SYNDROME; X LINKED AGAMMAGLOBULINEMIA; AWARENESS; CHINESE; CYTOKINE PRODUCTION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEALTH SERVICE; HONG KONG; HYPERIGM SYNDROME; IMMUNOLOGY; PATIENT REFERRAL; REGISTER; SEVERE COMBINED IMMUNODEFICIENCY DISORDER; SOCIOLOGY; X CHROMOSOME LINKED DISORDER;

CHINA; GENETIC TESTING; GENETIC VARIATION; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; SOCIOLOGY, MEDICAL;

EID: 73649095879     PISSN: 16727681     EISSN: None     Source Type: Journal    
DOI: 10.1038/cmi.2009.51     Document Type: Review

References (68)

1. Bruton OC. Agammaglobulinemia. Pediatrics. 1952;9:722-728.
2. Hitzig WH, Biro Z, Bosch H, Huser HJ. Agammaglobulinamie und Alymphozytose mit Schwund des lymphatischen Gewebes. Helv Paediatr Acta. 1950;13:551-585.
3. Tobler R, Cottier H. Familliare Lymphopenie mit Agamma-globulineamie und schwerer Moniliase. Helv Paediatr Acta. 1958;13:313-318.
4. Bridges RA, Berendes H, Good RA. A fatal granulomatous disease of childhood; the clinical, pathological, and laboratory features of a new syndrome. AMA J Dis Child. 1959;97: 387-408.
5. de Vaal O, Seynhaeve V. Reticular dysgenesia. Lancet. 1959;2: 1123-1125.
6. Good RA. Agammaglobulinemia-a provocative experiment of nature. Bull Univ Minn Med Found. 1954;26:1-19.
7. Sanford JP, Favour CB, Tribeman MS. Absence of serum gamma globulins in an adult. N Engl J Med. 1954;250:1027-1029.
8. Kostman R. Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria. Acta Paediatr Suppl. 1956;45:1-78.
9. Rosen FS, Kevy SV, Merler E, Janeway CA, Gitlin D. Recurrent bacterial infections and dysgamma-globulinemia: deficiency of 7S gamma-globulins in the presence of elevated 19S gamma-globulins. Report of two cases. Pediatrics. 1961;28: 182-195.
10. DiGeorge AM. A new concept of the cellular basis of immunity (discussion). J Pediatr. 1965;67:907-908.
11. Klemperer M, Woodworth HC, Rosen FS, Austen KF. Hereditary deficiency of the second component of complement in man. J Clin Invest. 1966;45:880-890.
12. Rosen FS. A brief history of immunodeficiency disease. Immunol Rev. 2000;178:8-12.
13. Stiehm ER, Johnston RB. A history of pediatric immunology. Pediatr Res. 2005;57:458-467.
14. Geha RS, Notarangelo LD, Casanova JL, et al. International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol. 2007;120: 776-794.
15. Schulman ST. The history of pediatric infectious diseases. Pediatr Res. 2004;55:163-176.
16. Cao XT. Immunology in China: the past, present and future. Nat Immunol. 2008;9:339-342.
17. Yang XQ. The past, present and future of primary immunodeficiency disorders. Chin J Pediatr. 2004;42:561-563.
18. Yang XQ. Directions for development of paediatric immunology in China. Zhong Guo Er Ke Za Zhi. 1996; 34:221-222.
19. Li CR, Yang XQ. Protocol for screening and diagnostic procedures for primary immunodeficiency disorders (draft). Zhong Guo Er Ke Za Zhi. 1996;34:274-277.
20. Li YP, Wang HW, Yang XQ. Minutes of the 5th National Pediatric Immunology Conference. Zhong Guo Er Ke Za Zhi. 1999;37:327-328.
21. Li YP, Yang XQ. Progress in clinical research on pediatric allergy and immunological disorders. Zhong Guo Shi Yong Er Ke Za Zhi. 1999;14:331-333.
22. Li YP, Yang XQ. Progress in clinical research on pediatric allergy and immunological disorders. Zhong Guo Shi Yong Er Ke Za Zhi. 2000;15:213-214.
23. Li YP, Yang XQ. Progress in clinical research on pediatric allergy and immunological disorders. Zhong Guo Shi Yong Er Ke Za Zhi. 2001;16:274-275.
24. Zhao XD. Yang XQ. Progress in clinical research on pediatric allergy and immunological disorders. Zhong Guo Shi Yong Er Ke Za Zhi. 2002;17:268-270.
25. Yang XQ. Progress in clinical research on pediatric allergy and immunological disorders. Zhong Guo Shi Yong Er Ke Za Zhi. 2003;18: 339-341.
26. Zhao XD, Liu EM, Yang XQ. Progress in clinical research on pediatric allergy and immunological disorders. Zhong Guo Shi Yong Er Ke Za Zhi. 2006;21:347-350.
27. Zhao XD, Liu EM, Yang XQ. Progress in clinical research on pediatric allergy and immunological disorder. Zhong Guo Shi Yong Er Ke Za Zhi. 2007;22:345-347.
28. Zhao XD. Progress in diagnosis and treatment of primary immunodeficiency disorders. J Appl Clin Pediatr. 2008;23: 1633-1635.
29. Zhan YZ, Jiang LP, Zhou Y, Xie N, Yang XQ. Clinical investigation of 135 primary immunodeficiency disorders in children. Zhong Guo Shi Yong Er Ke Za Zhi. 2009;24: 132-134.
30. Zhao WJ, Chen TX, Hao YQ, Zhou YF, Ying DM. Review on the clinical features of primary immunodeficiency disorders . Zhong Guo Er Ke Za Zhi. 2006;44:403-406.
31. Liu YZ, Liu G, Jiang ZF. Analysis on 72 cases of primary immunodeficiency disorders in children. Zhong Guo Shi Yong Er Ke Za Zhi. 2007;22:612-615.
32. Lau YL, Wong SN, Lawton JWM, Chow CB. Chronic granulomatous disease: a different pattern in Hong Kong? J Paediatr Child Health. 1991;27:235-239.
33. Lau YL, Low LCK, Jones BM, Lawton JWM. Defective neutrophil and lymphocyte function in leucocyte adhesion deficiency. Clin Exp Immunol. 1991;85:202-208.
34. Lau YL, Jones BM, Low LCK, Wong SN, Leung NK. Defective B-cell and regulatory T-cell function in Wiskott-Aldrich syndrome. Eur J Pediatr. 1992;151:680-683.
35. Jones BM, Lau YL, Wong KL. B-cell and T-regulatory cell dysfunction in six Chinese children with hypogamma-globulinaemia. Eur J Pediatr. 1993;152:409-413.
36. Lau YL, Jones BM, Yeung CY. Biphasic rise of serum immunoglobulins G and A and sex influence on serum immunoglobulin M in normal Chinese children. J Paediatr Child Health. 1992;28:240-243.
37. Lau YL, Jones BM, Ng KW, Yeung CY. Percentile ranges for serum IgG subclass concentrations in healthy Chinese children. Clin Exp Immunol. 1993;91:337-341.
38. Lee TL, Chan GC, Ha SY, Lau YL. A single center experience of primary immunodeficiency in Hong Kong. Hong Kong J Paediatr. 1999;4:16-20.
39. Hui YF, Chan SY, Lau YL. Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease. Blood. 1996;88:4021-4028.
40. Yip KL, Chan SY, Ip WK, Lau YL. Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agamma-globulinemia. Hum Mutat. 2000;15:385-388.
41. Chan SY, Hui YF, Lau YL. An 11-bp deletion in exon 10 (c1295del11) of WASP responsible for Wiskott Aldrich syndrome. Hum Mutat. 1999;13:507-508.
42. Chan KW, Lee TL, Chung BHY, Yang XQ, Lau YL. Identification of five novel WASP mutations in Chinese families with Wiskott-Aldrich syndrome. Hum Mutat. 2002;20: 151-152.
43. Lam DST, Lee TL, Chan KW, Ho HK, Lau YL. Primary immunodeficiency in Hong Kong and the use of genetic analysis for diagnosis. Hong Kong J Med. 2005;11:90-96.
44. Lee PPW, Chan KW, Jiang LP, et al. Susceptibility to mycobacterial infections in children with X-linked chronic granulomatous disease. Pediatr Infect Dis J. 2008;27:224-230.
45. Lee PPW, Jiang LP, Wang XC, Chan KW, Tu WW, Lau YL. Severe mycobacterial infections in two pairs of Chinese siblings with interleukin-12 receptor β1 deficiency. Eur J Pediatr. 2008; 167:231-232.
46. Lee PPW, Chen TX, Jiang LP, et al. Clinical and molecular characteristics of 35 Chinese Children with Wiskott-Aldrich syndrome. J Clin Immunol. 2009;29:490-500.
47. Chan KW, Chen T, Jiang LP, et al. Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinemia by long PCR-direct sequencing. Int J Immunogenet. 2006;33:205-209.
48. Lee PPW, Chen TX, Jiang LP, et al. Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia. J Clin Immunol 2009; Nov 11 (Epub ahead of print). DOI 10.1007/s10875-009-9341- 5.
49. Wang Y, Kanegane H, Wang X, et al. Mutation of the BTK gene and clinical features of X-linked agammaglobulinemia in Mainland China. J Clin Immunol. 2009;29:352-356.
50. Zhang ZO, Zhao XD, Wang M, et al. Clinical and genetic analysis of 10 cases with X-linked agammaglobulinemia (abstract). Keystone Symposia, Human Immunology and Immunodeficiencies. May 12-17, 2009, Beijing.
51. Lin MT, Chien YH, Shyur SD, Huang LH, Chiang YC, Wen DC, Liang PH, Yang HC. De novo mutation in the BTK gene of atypical X-linked agammaglobulinemia in a patient with recurrent pyoderma. Ann Allergy Asthma Immunol. 2006; 96:744-748.
52. Lee WI, Huang JL, Kuo ML, et al. Analysis of genetic defects in patients with the common variable immunodeficiency phenotype in a single Taiwanese tertiary care hospital. Ann Allergy Asthma Immunol. 2007;99:433-442.
53. López-Granados E, Pérez de Diego R, Ferreira Cerdán A, Fontán Casariego G, García Rodríguez MC. A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia. J Allergy Clin Immunol 2005; 116:690-697.
54. Broides A, Yang W, Conley ME. Genotype/phenotype correlations in X-linked agammaglobulinemia. Clin Immunol. 2006;118:195-200.
55. Durandy A, Peron S, Fischer A. Hyper-IgM syndromes. Curr Opin Rheumatol. 2006;18:369-376.
56. Lee WI, Yang CY, Jaing TH, Huang JL, Chien YH, Chang KW. Clinical aspects and molecular analysis of Chinese patients with Wiskott-Aldrich syndrome in Taiwan. Int Arch Allergy Immunol. 2008;145:15-23.
57. Xiao HQ, Zhang ZY, Jiang LP, Yang XQ, Zhao XD. Clinical features and molecular analysis of eleven patients with Wiskott-Aldrich syndrome in China (abstract). Keystone Symposia, Human Immunology and Immunodeficiencies. May 12-17, 2009, Beijing.
58. Yu J, Guan XM, Dai BT, et al. Successful treatment of a patient with Wiskott-Aldrich syndrome using hematopoietic stem cell transplantation-case report and literature review. Zhong Guo Er Ke Za Zhi. 2009;47:183-188.
59. Holland SM. Chronic Granulomatous Disease. Clin Rev Allergy Immunol. 2009; in press.
60. Lau YL, Chan GCF, Ha SY, Hui YF, Yuen KY. The role of phagocytic respiratory burst in host defense against Mycobacterium tuberculosis. Clin Infect Dis. 1998;26:226-227.
61. Bustamante J, Aksu G, Vogt G, et al. BCG-osis and tuberculosis in a child with chronic granulomatous disease. J Allergy Clin Immunol. 2007;120:32-38.
62. Al-Muhsen S, Casanova JL. The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases. J Allergy Clin Immunol. 2008;122:1043-1051.
63. Lee WI, Huang JL, Lin TY, et al. Chinese patients with defective IL-12/23-Interferon-γ circuit in Taiwan: partial dominant interferon-γ receptor 1 mutation presenting as cutaneous granuloma and IL-12 receptor β1 mutation as pneumotocele. J Clin Immunol. 2009;29:238-245.
64. Casanova JL, Abel L. Primary immunodeficiencies: a field in its infancy. Science. 2007;317:617-619.
65. Casanova JL, Fieschi C, Zhang SY, Abel L. Revisiting human primary immunodeficiencies. J Intern Med. 2008;264:115-127.
66. Chen TX. Raising awareness about primary immunodeficiency disorders and its management. Lin Chuang Er Ke Za Zhi. 2004; 22:579-582.
67. Chen TX. Early recognition and intervention of primary immunodeficiency disorders. Zhong Guo Er Ke Za Zhi. 2006;44: 427-430.
68. Zhao XD, Yang XQ. Management of primary immunodeficiency disorders in China: current perspectives and future directions. Zhong Guo Er Ke Za Zhi. 2008; 46:801-804.