메뉴 건너뛰기




Volumn 61, Issue 3, 2005, Pages 201-206

Clinical and immunological characteristics of twenty patients with DiGeorge syndrome;Características clínicas e inmunológicas de veinte pacientes con síndrome de DiGeorge

Author keywords

Chomosome abnormalities; Chromosomes; DiGeorge syndrome; Human; Pair 22

Indexed keywords

CD3 ANTIGEN; CD4 ANTIGEN; CD8 ANTIGEN;

EID: 21744451155     PISSN: 0034947X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (1)

References (26)
  • 1
    • 0000399572 scopus 로고
    • Congenital absence of the thymus and its immunological consequences: Concurrence with congenital hypoparathyroidsm
    • DiGeorge AM. Congenital absence of the thymus and its immunological consequences: concurrence with congenital hypoparathyroidsm. Birth Defects 1968; 4: 116-21.
    • (1968) Birth Defects , vol.4 , pp. 116-121
    • DiGeorge, A.M.1
  • 2
    • 0024468206 scopus 로고
    • What defines DiGeorge anomaly?
    • Greenberg F. What defines DiGeorge anomaly? J Pediatr 1989; 115: 412-3.
    • (1989) J Pediatr , vol.115 , pp. 412-413
    • Greenberg, F.1
  • 4
    • 0023919253 scopus 로고
    • The DiGeorge Syndrome, Clinical evaluation and course of partial and complete forms of the syndrome
    • Muller W, Peter H, Wilken M, Jüppner H, Kallfelz HC, Krohn H, et al. The DiGeorge Syndrome, Clinical evaluation and course of partial and complete forms of the syndrome. Eur J Pediatr 1988; 147: 496-502.
    • (1988) Eur J Pediatr , vol.147 , pp. 496-502
    • Muller, W.1    Peter, H.2    Wilken, M.3    Jüppner, H.4    Kallfelz, H.C.5    Krohn, H.6
  • 5
    • 0024310736 scopus 로고
    • The DiGeorge sequence II. Immunological findings in complete and partial forms of the disorder
    • Muller W, Peter HH, Kalfelz HC, Franz A, Rieger CH. The DiGeorge sequence II. Immunological findings in complete and partial forms of the disorder. Eur J Pediatr 1989; 149: 96-103.
    • (1989) Eur J Pediatr , vol.149 , pp. 96-103
    • Muller, W.1    Peter, H.H.2    Kalfelz, H.C.3    Franz, A.4    Rieger, C.H.5
  • 6
    • 0022520161 scopus 로고
    • Cardiovascular anomalies in DiGeorge Syndrome and importance of neural crest as a possible pathogenetic factor
    • Van Mierop LHS, Kutsche LM. Cardiovascular anomalies in DiGeorge Syndrome and importance of neural crest as a possible pathogenetic factor. Am J Cardiol 1986; 58: 133-7.
    • (1986) Am J Cardiol , vol.58 , pp. 133-137
    • Van Mierop, L.H.S.1    Kutsche, L.M.2
  • 8
    • 0035196580 scopus 로고    scopus 로고
    • Immunologic features of Chromosome 22q11.2 deletion Syndrome (DiGeorge syndrome / velocardiofacial syndrome)
    • Jawad A, Mc Donald-Mc Ginn D, Zackai E, Sullivan K. Immunologic features of Chromosome 22q11.2 deletion Syndrome (DiGeorge syndrome / velocardiofacial syndrome). J Pediatrics 2001; 139: 715-23.
    • (2001) J Pediatrics , vol.139 , pp. 715-723
    • Jawad, A.1    Mc Donald-Mc Ginn, D.2    Zackai, E.3    Sullivan, K.4
  • 9
    • 12544258195 scopus 로고    scopus 로고
    • Manifestaciones clínicas y variabilidad inmunológica en nueve pacientes con síndrome de di George
    • Aglony M, Lizama M, Méndez C, Navarrete C, Garay F, Repetto G, et al. Manifestaciones clínicas y variabilidad inmunológica en nueve pacientes con síndrome de Di George. Rev Med Chile 2004; 132: 26-32.
    • (2004) Rev Med Chile , vol.132 , pp. 26-32
    • Aglony, M.1    Lizama, M.2    Méndez, C.3    Navarrete, C.4    Garay, F.5    Repetto, G.6
  • 10
    • 0030731665 scopus 로고    scopus 로고
    • Pulmonary disease in children with severe combined immune deficiency and DiGeorge Syndrome
    • Deerojanawong J, Chang AB, Eng PA, Robertson CF, Kemp AS. Pulmonary disease in children with Severe Combined Immune Deficiency and DiGeorge Syndrome. Pediatr.Pulmonol. 1997; 24: 324-30.
    • (1997) Pediatr.Pulmonol. , vol.24 , pp. 324-330
    • Deerojanawong, J.1    Chang, A.B.2    Eng, P.A.3    Robertson, C.F.4    Kemp, A.S.5
  • 11
    • 0030780570 scopus 로고    scopus 로고
    • Severe laringomalacia and bronchomalacia in DiGeorge Syndrome and CHARGE Associacion
    • Markert ML, Majure M, Harville TO, Hulka Gregory, Oldham. Severe Laringomalacia and Bronchomalacia in DiGeorge Syndrome and. CHARGE Associacion. Pediatric Pulmonol 1997; 24: 364-9.
    • (1997) Pediatric Pulmonol , vol.24 , pp. 364-369
    • Markert, M.L.1    Majure, M.2    Harville, T.O.3    Hulka, G.4    Oldham5
  • 12
    • 0035350258 scopus 로고    scopus 로고
    • Heterogeneidad de la presentación clínica del síndrome de microdeleción del cromosoma 22, region q11
    • Muñoz S, Garay F, Flores I, Heusser F, Talesnik E, Aracena M, et al. Heterogeneidad de la presentación clínica del síndrome de microdeleción del cromosoma 22, region q11. Rev Méd Chile 2001; 129: 515-21.
    • (2001) Rev Méd Chile , vol.129 , pp. 515-521
    • Muñoz, S.1    Garay, F.2    Flores, I.3    Heusser, F.4    Talesnik, E.5    Aracena, M.6
  • 14
    • 0027370619 scopus 로고
    • Prevalence of 22q11 microdeletion in DiGeorge syndrome and velocardiofacial syndromes: Implications for genetic counseling and prenatal diagnosis
    • Driscoll DA, Salvin J, Sellinger B. Prevalence of 22q11 microdeletion in DiGeorge syndrome and velocardiofacial syndromes: implications for genetic counseling and prenatal diagnosis. J Med Genet 1993; 30: 813-7.
    • (1993) J Med Genet , vol.30 , pp. 813-817
    • Driscoll, D.A.1    Salvin, J.2    Sellinger, B.3
  • 15
    • 0026056420 scopus 로고
    • Assessment of a clinical scoring system for detection of immunodeficiency in children with recurrent infections
    • Lyall H, Eden O, Dixon R, Sutherland R, Thomson A. Assessment of a clinical scoring system for detection of immunodeficiency in children with recurrent infections. Pediatr Infect Dis J 1991; 10: 673-76.
    • (1991) Pediatr Infect Dis J , vol.10 , pp. 673-676
    • Lyall, H.1    Eden, O.2    Dixon, R.3    Sutherland, R.4    Thomson, A.5
  • 17
    • 0036889598 scopus 로고    scopus 로고
    • Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes)
    • Pérez E, Sullivan K. Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes). Curr Opin Pediatr 2002; 14: 678-83.
    • (2002) Curr Opin Pediatr , vol.14 , pp. 678-683
    • Pérez, E.1    Sullivan, K.2
  • 18
    • 0842327784 scopus 로고    scopus 로고
    • Incidence and prevalence of the 22q11 deletion syndrome: A population-based study in western Sweden
    • Oskardóttir S, Vujic M, Fasth A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in western Sweden. Arch Dis Child 2004; 89: 148-51.
    • (2004) Arch Dis Child , vol.89 , pp. 148-151
    • Oskardóttir, S.1    Vujic, M.2    Fasth, A.3
  • 20
    • 0038419517 scopus 로고    scopus 로고
    • A population-based study of the 22q11.2 deletion:, phenotipe, incidence, and contribution to major birth defects in the population
    • Botto LD, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen SA, et al. A population-based study of the 22q11.2 deletion:, phenotipe, incidence, and contribution to major birth defects in the population. Pediatrics 2003; 112: 101-7.
    • (2003) Pediatrics , vol.112 , pp. 101-107
    • Botto, L.D.1    May, K.2    Fernhoff, P.M.3    Correa, A.4    Coleman, K.5    Rasmussen, S.A.6
  • 21
    • 0642333838 scopus 로고    scopus 로고
    • Chromosome 22q11.2 Deletion in patients with ventricular septal defect: Frequency and associated cardiovascular anomalies
    • McElhinney DB, Discroll DA, Levin ER, Jawad AF, Emanuel BS, Goldmuntz E. Chromosome 22q11.2 Deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies. Pediatrics 2003; 112: 472-6.
    • (2003) Pediatrics , vol.112 , pp. 472-476
    • McElhinney, D.B.1    Discroll, D.A.2    Levin, E.R.3    Jawad, A.F.4    Emanuel, B.S.5    Goldmuntz, E.6
  • 23
    • 0033807974 scopus 로고    scopus 로고
    • Structural airway anomalies in patients with DiGeorge Syndrome: A current review
    • Huang RY, Shapiro NL. Structural airway anomalies in patients with DiGeorge Syndrome: A current review. Am J Otolaryngol 2000; 21: 326-30.
    • (2000) Am J Otolaryngol , vol.21 , pp. 326-330
    • Huang, R.Y.1    Shapiro, N.L.2
  • 24
    • 0029151334 scopus 로고
    • Humoral immunity in DiGeorge Syndrome
    • Junker AK, Driscoll DA. Humoral immunity in DiGeorge Syndrome. J Pediatr 1995; 127: 231-7.
    • (1995) J Pediatr , vol.127 , pp. 231-237
    • Junker, A.K.1    Driscoll, D.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.