Complement 4 phenotypes and genotypes in Brazilian patients with classical 21-hydroxylase deficiency

Clinical and Experimental Immunology

Volumn 155, Issue 2, 2009, Pages 182-188

  Guerra Jr , G ^a,b   Grumach, A Sevciovic ^c   De Lemos Marini, S H Valente ^a   Kirschfink, M ^d   Neto, A Condino ^a,c   De Araujo, M ^b   De Mello, M Palandi ^b  

^a Faculty of Medical Science   (Brazil)

^b UNIVERSITY OF CAMPINAS   (Brazil)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

^d UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Adrenal disease; Complement; Endocrine immunology disease; MHC; Steroids

Indexed keywords

COMPLEMENT COMPONENT C4; COMPLEMENT COMPONENT C4A; COMPLEMENT COMPONENT C4B; STEROID 21 MONOOXYGENASE;

ADULT; ALLOTYPE; ARTICLE; AUTOIMMUNITY; CHILD; CLINICAL FEATURE; CONCENTRATION (PARAMETERS); CORRELATION ANALYSIS; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; GENE CLUSTER; GENETIC ORGANIZATION; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT INFECTION; RESPIRATORY TRACT INFECTION; SCHOOL CHILD; SOUTHERN BLOTTING; STEROID 21 MONOOXYGENASE DEFICIENCY; URINARY TRACT INFECTION;

ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; AUTOIMMUNE DISEASES; CHILD; CHILD, PRESCHOOL; COMPLEMENT ACTIVATION; COMPLEMENT C4; FEMALE; GENOTYPE; HAPLOTYPES; HUMANS; MALE; OPPORTUNISTIC INFECTIONS; PHENOTYPE; RECURRENCE; STEROID 21-HYDROXYLASE; YOUNG ADULT;

EID: 58149293498     PISSN: 00099104     EISSN: 13652249     Source Type: Journal    
DOI: 10.1111/j.1365-2249.2008.03838.x     Document Type: Article

References (39)

1. Bonilla FA, Bernstein IL, Khan DA et al. Practice parameter for the diagnosis and management of primary immunodeficiency. Ann Allergy Asthma Immunol 2005 94 (5 Suppl. 1 S1 63.
2. Grumach AS, Duarte AJ, Bellinatti-Pires R et al. Brazilian report on primary immunodeficiencies in children: 166 cases studied over a follow-up time of 15 years. J Clin Immunol 1997 17 : 240 5.
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.
4. Hawlisch H, Kohl J. Complement and Toll-like receptors: key regulators of adaptive immune responses. Mol Immunol 2006 43 : 13 21.
5. Lutz HU, Jelezarova E. Complement amplification revisited. Mol Immunol 2006 43 : 2 12.
6. Sjoholm AG, Jonsson G, Braconier JH et al. Complement deficiency and disease: an update. Mol Immunol 2006 43 : 78 85.
7. Blanchong C, Zhou B, Rupert KL et al. Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (CCX) modules in Caucasians: the load of RCCX genetic diversity on major histocompatibility complex-associated disease. J Exp Med 2000 191 : 2183 96.
8. Yu CY. The complete exon-intron structure of a human complement C4A gene. J Immunol 1991 146 : 1057 66.
9. Chung EK, Yang Y, Rupert KL et al. Determining the one, two, three, or four and short loci of human complement C4 in a major histocompatibility complex haplotype encoding C4A or C4B proteins. Am J Hum Genet 2002 71 : 810 22.
10. Yang Y, Chung EK, Zhou B et al. Diversity in intrinsic strengths of the human complement system: serum C4 protein concentrations correlate with C4 gene size and polygenic variations, hemolytic activities and body mass index. J Immunol 2003 171 : 2734 45.
11. Yang Z, Yu CY. Organizations and gene duplications of the human and mouse MHC complement gene clusters. Exp Clin Immunogenet 2000 17 : 1 17.
12. Clayton PE, Miller WL, Oberfield SE et al. Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society. Horm Res 2002 58 : 188 95.
13. Merke DP, Bornstein SR. Congenital adrenal hyperplasia. Lancet 2005 365 : 2125 36.
14. White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000 21 : 245 91.
15. Liszewski MK, Atkinson JP. The role of complement in autoimmunity. Immunol Ser 1991 54 : 13 37.
16. Lokki ML, Circolo A, Ahokas P et al. Deficiency of human complement protein C4 due to identical frameshift mutations in the C4A and C4B genes. J Immunol 1999 162 : 3687 93.
17. Samano ET, Ribeiro LM, Gorescu RG et al. Involvement of C4 allotypes in the pathogenesis of human diseases. Clinics 2004 59 : 138 44.
18. Yang Y, Chung EK, Wu YL et al. Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans. Am J Hum Genet 2007 80 : 1037 54.
19. Bishof NA, Welch TR, Beischel LS. C4B deficiency: a risk factor for bacteremia with encapsulated organisms. J Infect Dis 1990 162 : 248 50.
20. Araujo M, Sanches MP, Suzuki LA et al. Molecular analysis of CYP-21 and C4 genes in Brazilian families with the classical forms of the steroid 21-hydroxylase deficiency. Braz J Med Biol Res 1996 29 : 1 13.
21. Paulino LC, Araujo M, Guerra-Junior G et al. Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21-hydroxylase deficiency. Acta Paediatr 1999 88 : 275 83.
22. Barata RCB, Waldman EA, Moraes JC, Guibu IA, Rozov T, Takimoto S. Gastroenteritis and acute respiratory infections among children up to 5 years old in area of Southeastern Brazil, 1986-1987. I. Acute respiratory infections. Rev Saude Publica 1996 30 : 533 63.
23. Heffelfinger JD, Davis TE, Gebrian B, Bordeau R, Schwartz B, Dowell SF. Evaluation of children with recurrent pneumonia diagnosed by World Health Organization criteria. Pediatr Infect Dis J 2002 21 : 108 12.
24. Le Saux N, Pham B, Moher D. Evaluating the benefits of antimicrobial prophylaxis to prevent urinary tract infections in children: a systematic review. Can Med Assoc J 2000 163 : 523 9.
25. Mayer MM. Complement and complement fixation. In : Kabat EA, Mayer MM, eds. Experimental immuonochemistry. Springfield : Thomas, 1961 : 133 240.
26. Joiner KA, Haiwinger A, Gelfand JA. A study of optimal reaction conditions for assay of the human alternative pathway. Am J Clin Pathol 1983 79 : 65 72.
27. Chrispeels J, Bank S, Rittner C et al. Sandwich enzyme-linked immunosorbent assays for the quantification of the C4 isotypes (C4A and C4B) in human plasma. J Immunol Methods 1989 125 : 5 12.
28. Palsdottir A, Arnason A, Fossdal R et al. Gene organization of haplotypes expressing two different C4A allotypes. Hum Genet 1987 76 : 220 4.
29. Yu CY. Molecular genetics of the human MHC complement gene cluster. Exp Clin Immunogenet 1998 15 : 212 29.
30. Rupert KL, Rennebohm RM, Yu CY. An unequal crossover between the RCCX modules of the human MHC leading to the presence of a CYP21B gene and a tenascin TNXB/TNXA-RP2 recombination between C4A and C4B genes in a patient with juvenile reumathoid arthritis. Exp Clin Immunogenet 1998 16 : 81 97.
31. Schneider PM, Stradmann-Bellinghausen B, Rittner C. Genetic polymorphism of the fourth component of human complement: population study and proposal for a revised nomenclature based on genomic PCR typing of Rodgers and Chido determinants. Eur J Immunogenet 1996 3 : 335 44.
32. Morton L, Podolsky MD. Labial fusion: a cause of recurrent urinary tract infections. Clin Pediatr (Phila) 1973 12 : 345 6.
33. Leung AKC, Robson WLM. Labial fusion and asymptomatic bacteriuria. Eur J Pediatr 1993 152 : 250 1.
34. Elder JS. Urologic disorders in infants and children. In : Kliegman R, Behrman RE, Jenson HB, Stanton BF, eds. Nelson textbook of pediatrics. Philadelphia, PA : Saunders Elsevier, 2007 : 2255.
35. Lorini R, Gastaldi R, Traggiai C, Perucchin PP. Hashimoto's thyroiditis. Pediatr Endocrinol Rev 2003 1 (Suppl. 2 205 11.
36. Demirbilek H, Kandemir N, Gonc EN, Ozon A, Alikasifoglu A, Yordam N. Hashimoto's thyroiditis in children and adolescents: a retrospective study on clinical, epidemiological and laboratory properties of the disease. J Pediatr Endocrinol Metab 2007 20 : 1199 205.
37. Yang Z, Mendoza AR, Welch TR et al. Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and disease associations. J Biol Chem 1999 274 : 12147 56.
38. Collier S, Sinnott PJ, Dyer PA et al. Pulsed field gel electrophoresis identifies a high degree of variability in the number of tandem 21-hydroxylase and complement C4 gene repeats in 21-hydroxylase deficiency haplotypes. EMBO J 1989 8 : 1393 402.
39. Weg-Remers S, Brenden M, Schwarz E et al. Major histocompatibility complex (MHC) class III genetics in two Amerindian tribes from southern Brazil: the Kaingang and the Guarani. Hum Genet 1997 100 : 548 56.