• 1
    Notarangelo L, Casanova JL, Fischer A et al. Primary immunodeficiency diseases: an update. J Allergy Clin Immunol 2004; 114:67787.
  • 2
    Stiehm ER, Ochs HD, Winkelstein JA. Immunodeficiency disorders: general considerations. In: StiehmER, OchsHD, WinkelsteinJA, eds. Immunologic disorders in infants and children, 5th edn. Philadelphia: 2004:289355.
  • 3
    Folds JD, Schmitz JL. Clinical and laboratory assessment of immunity. J Allergy Clin Immunol 2003; 111 (2 Suppl.):S70211.
  • 4
    Bonilla FA, Bernstein IL, Khan DA et al. American Academy of Allergy, Asthma and Immunology; American College of Allergy, Asthma and Immunology; Joint Council of Allergy, Asthma and Immunology. Practice parameter for the diagnosis and management of primary immunodeficiency. Ann Allergy Asthma Immunol 2005; 94 (5 Suppl. 1):S163.
  • 5
    Spickett GP, Askew T, Chapel HM. Management of primary antibody deficiency by consultant immunologists in the United Kingdom: a paradigm for other rare diseases. Qual Health Care 1995; 4:2638.
  • 6
    De Vries E, Kuijpers TW, Van Tol MJ, Van Der Meer JW, Weemaes CM, Van Dongen JJ. [Immunology in medical practice. XXXIV. Screening for suspected immunodeficiency. Introduction]. Ned Tijdschr Geneeskd 2000; 144:21926.
  • 7
    De Vries E, Kuijpers TW, Van Tol MJ, Van Der Meer JW, Weemaes CM, Van Dongen JJ. [Immunology in medical practice. XXXV. Screening of suspected immunodeficiency: diagnostic protocols for patients with opportunistic or recurrent severe infections, wasting and failure to thrive]. Ned Tijdschr Geneeskd 2000; 144:2197203.
  • 8
    De Vries E, Kuijpers TW. The Dutch multistage laboratory protocol for the diagnosis of immunodefiency. In: EtzioniA, ed. Proceedings of the European Society for Immunodeficiencies. Bologna: Monduzzi Editore, 2000:16571.
  • 9
    Casanova JL, Fieschi C, Bustamante J, Reichenbach J, Remus N, Von Bernuth H, Picard C. From idiopathic infectious diseases to novel primary immunodeficiencies. J Allergy Clin Immunol 2005; 116:42630.
  • 10
    Stiehm ER, Chin TW, Haas A, Peerless AG. Infectious complications of the primary immunodeficiencies. Clin Immunol Immunopathol 1986; 40:6986.
  • 11
    Arkwright PD, Abinun M, Cant AJ. Autoimmunity in human primary immunodeficiency diseases. Blood 2002; 99:2694702.
  • 12
    Long SS. Distinguishing among prolonged, recurrent, and periodic fever syndromes: approach of a pediatric infectious diseases subspecialist. Pediatr Clin North Am 2005; 52:81135.
  • 13
    Steinbrook R. The AIDS epidemic in 2004. N Engl J Med 2004; 351:1157.
  • 14
    Ballow M. Primary immunodeficiency disorders: antibody deficiency. J Allergy Clin Immunol 2002; 109:58191.
  • 15
    Sjoholm AG, Jonsson G, Braconier JH, Sturfelt G, Truedsson L. Complement deficiency and disease: an update. Mol Immunol 2006; 43:7885.
  • 16
    Cunningham-Rundles C, Bodian C. Common variable immunodeficiency. clinical and immunological features of 248 patients. Clin Immunol 1999; 92:3448.
  • 17
    Heyworth PG, Cross AR, Curnutte JT. Chronic granulomatous disease. Curr Opin Immunol 2003; 15:57884.
  • 18
    Berliner N, Horwitz M, Loughran TP Jr. Congenital and acquired neutropenia. Hematology (Am Soc Hematol Educ Prog) 2004; 2004:6379.
  • 19
    Buckley RH. Primary cellular immunodeficiencies. J Allergy Clin Immunol 2002; 109:74757.
  • 20
    Remus N, Reichenbach J, Picard C et al. Impaired interferon gamma-mediated immunity and susceptibility to mycobacterial infection in childhood. Pediatr Res 2001; 50:813.
  • 21
    Puel A, Picard C, Ku CL, Smahi A, Casanova JL. Inherited disorders of NF-kappaB-mediated immunity in man. Curr Opin Immunol 2004; 16:3441.
  • 22
    Kirkpatrick CH. Chronic mucocutaneous candidiasis. Pediatr Infect Dis J 2001; 20:197206.
  • 23
    Davidson RN, Wall RA. Prevention and management of infections in patients without a spleen. Clin Microbiol Infect 2001; 7:65760.
  • 24
    Oliveira JB, Fleisher T. Autoimmune lymphoproliferative syndrome. Curr Opin Allergy Clin Immunol 2004; 4:497503.
  • 25
    Sneller MC, Dale JK, Straus SE. Autoimmune lymphoproliferative syndrome. Curr Opin Rheumatol 2003; 15:41721.
  • 26
    Betterle C, Greggio NA, Volpato M. Autoimmune polyglandular syndrome type 1. J Clin Endocrinol Metab 1998; 83:104955.
  • 27
    Gambineri E, Torgerson TR, Ochs HD. Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis. Curr Opin Rheumatol 2003; 15:4305.
  • 28
    Ming JE, Stiehm ER, Graham JM Jr. Syndromes associated with immunodeficiency. Adv Pediatr 1999; 46:271351.
  • 29
    Gompels MM, Lock RJ, Abinun M, et al. C1 inhibitor deficiency: consensus document. Clin Exp Immunol 2005; 139:37994.
  • 30
    Rosen FS. Severe combined immunodeficiency: a pediatric emergency. J Pediatr 1997; 130:3456.