Modern management of primary B-cell immunodeficiencies

Pediatric Allergy and Immunology

Volumn 22, Issue 8, 2011, Pages 758-769

  Hoernes, Miriam ^a   Seger, Reinhard ^a   Reichenbach, Janine ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

Agammaglobulinaemia; B cell immunodeficiencies; Class switch recombination defects; Common variable immunodeficiency; Hyper IgM syndromes; Immunoglobulin substitution; IVIg; Modern Management B cell defects; SCIg

Indexed keywords

AMOXICILLIN; AMOXICILLIN PLUS CLAVULANIC ACID; ANTIBIOTIC AGENT; AZATHIOPRINE; BUDESONIDE; CIPROFLOXACIN; CORTICOSTEROID; COTRIMOXAZOLE; CYCLOSPORIN A; ETANERCEPT; GENTAMICIN; HYDROXYCHLOROQUINE; IMMUNOGLOBULIN; IMMUNOGLOBULIN G; IMMUNOSUPPRESSIVE AGENT; INFLIXIMAB; INFLUENZA VACCINE; MERCAPTOPURINE; METHOTREXATE; MYCOPHENOLIC ACID 2 MORPHOLINOETHYL ESTER; PAROMOMYCIN;

ABDOMINAL CRAMP; ACUTE KIDNEY FAILURE; AGAMMAGLOBULINEMIA; ANAPHYLAXIS; ANTIBIOTIC PROPHYLAXIS; ANTIBIOTIC THERAPY; ARTHRALGIA; ASEPTIC MENINGITIS; B LYMPHOCYTE; BRONCHIECTASIS; CHILL; COMMON VARIABLE IMMUNODEFICIENCY; CRYPTOSPORIDIOSIS; DEEP VEIN THROMBOSIS; DISEASE SEVERITY; ENTEROPATHY; FEVER; HEADACHE; HEART INFARCTION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HOT FLUSH; HUMAN; HYPER IGM SYNDROME; IMMUNE DEFICIENCY; INFECTION; INJECTION SITE ERYTHEMA; INJECTION SITE PRURITUS; INJECTION SITE SWELLING; INTERSTITIAL PNEUMONIA; LOWER RESPIRATORY TRACT INFECTION; MALAISE; MYALGIA; NAUSEA; NONHUMAN; PATIENT COMPLIANCE; PNEUMOCYSTIS PNEUMONIA; PRIORITY JOURNAL; RASH; RECURRENT INFECTION; REVIEW; STROKE; TREATMENT INDICATION; TREATMENT OUTCOME; VACCINATION;

ANIMALS; ANTIGENS, CD19; B-LYMPHOCYTES; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; IMMUNOGLOBULIN CLASS SWITCHING; IMMUNOGLOBULINS; IMMUNOGLOBULINS, INTRAVENOUS; IMMUNOLOGIC DEFICIENCY SYNDROMES;

EID: 82455175987     PISSN: 09056157     EISSN: 13993038     Source Type: Journal    
DOI: 10.1111/j.1399-3038.2011.01236.x     Document Type: Review

References (116)

1. Van der Burg M, van Zelm MC, Driessen GJ, van Dongen JJ. Dissection of B-cell development to unravel defects in patients with a primary antibody deficiency. Adv Exp Med Biol 2011: 697: 183-96.
2. Conley ME, Dobbs AK, Farmer DM, et al. Primary B cell immunodeficiencies: comparisons and contrasts. Annu Rev Immunol 2009: 27: 199-227.
3. Conley ME, Howard V. Clinical findings leading to the diagnosis of X-linked agammaglobulinemia. J Pediatr 2002: 141: 566-71.
4. Lederman HM, Winkelstein JA. X-linked agammaglobulinemia: an analysis of 96 patients. Medicine (Baltimore) 1985: 64: 145-56.
5. Davis LE, Bodian D, Price D, Butler IJ, Vickers JH. Chronic progressive poliomyelitis secondary to vaccination of an immunodeficient child. N Engl J Med 1977: 297: 241-5.
6. McKinney RE Jr, Katz SL, Wilfert CM. Chronic enteroviral meningoencephalitis in agammaglobulinemic patients. Rev Infect Dis 1987: 9: 334-56.
7. Hertel NT, Pedersen FK, Heilmann C. Coxsackie B3 virus encephalitis in a patient with agammaglobulinaemia. Eur J Pediatr 1989: 148: 642-3.
8. Roifman CM, Rao CP, Lederman HM, Lavi S, Quinn P, Gelfand EW. Increased susceptibility to Mycoplasma infection in patients with hypogammaglobulinemia. Am J Med 1986: 80: 590-4.
9. Taylor-Robinson D, Furr PM. Protection of mice against vaginal colonisation by Mycoplasma pulmonis. J Med Microbiol 1994: 40: 197-201.
10. Cuccherini B, Chua K, Gill V, et al. Bacteremia and skin/bone infections in two patients with X-linked agammaglobulinemia caused by an unusual organism related to Flexispira/Helicobacter species. Clin Immunol (Orlando, FL) 2000: 97: 121-9.
11. Nonoyama S, Tsukada S, Yamadori T, et al. Functional analysis of peripheral blood B cells in patients with X-linked agammaglobulinemia. J Immunol 1998: 161: 3925-9.
12. Broides A, Yang W, Conley ME. Genotype/phenotype correlations in X-linked agammaglobulinemia. Clin Immunol (Orlando, FL) 2006: 118: 195-200.
13. Lopez Granados E, Porpiglia AS, Hogan MB, et al. Clinical and molecular analysis of patients with defects in micro heavy chain gene. J Clin Invest 2002: 110: 1029-35.
14. Yong PL, Boyle J, Ballow M, et al. Use of intravenous immunoglobulin and adjunctive therapies in the treatment of primary immunodeficiencies: a working group report of and study by the Primary Immunodeficiency Committee of the American Academy of Allergy Asthma and Immunology. Clini Immunol 2010: 135: 255-63.
15. Hendriks RW, Bredius RG, Pike-Overzet K, Staal FJ. Biology and novel treatment options for XLA, the most common monogenetic immunodeficiency in man. Expert Opin Ther Targets 2011: 15: 1003-21.
16. Davies EG, Thrasher AJ. Update on the hyper immunoglobulin M syndromes. Br J Haematol 2010: 149: 167-80.
17. Levy J, Espanol-Boren T, Thomas C, et al. Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr 1997: 131: 47-54.
18. Winkelstein JA, Marino MC, Ochs H, et al. The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. Medicine (Baltimore) 2003: 82: 373-84.
19. Gennery AR, Khawaja K, Veys P, et al. Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002. Blood 2004: 103: 1152-7.
20. Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clinical immunology (Orlando, FL) 1999: 92: 34-48.
21. Park MA, Li JT, Hagan JB, Maddox DE, Abraham RS. Common variable immunodeficiency: a new look at an old disease. Lancet 2008: 372: 489-502.
22. Yong PF, Tarzi M, Chua I, Grimbacher B, Chee R. Common variable immunodeficiency: an update on etiology and management. Immunol Allergy Clin North Am 2008; 28: 367-86, ix-x.
23. Notarangelo LD, Fischer A, Geha RS, et al. Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol 2009: 124: 1161-78.
24. Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol (Orlando, FL) 1999: 93: 190-7.
25. Hermans PE, Diaz-Buxo JA, Stobo JD. Idiopathic late-onset immunoglobulin deficiency. Clinical observations in 50 patients. Am J Med 1976: 61: 221-37.
26. Wehr C, Kivioja T, Schmitt C, et al. The EUROclass trial: defining subgroups in common variable immunodeficiency. Blood 2008: 111: 77-85.
27. Chapel H, Lucas M, Lee M, et al. Common variable immunodeficiency disorders: division into distinct clinical phenotypes. Blood 2008: 112: 277-86.
28. Rizzi M, Neumann C, Fielding AK, et al. Outcome of allogeneic stem cell transplantation in adults with common variable immunodeficiency. J Allergy Clin Immunol doi:10.1016/j.jaci.2011.07.055.
29. Bonilla FA, Bernstein IL, Khan DA, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. Ann Allergy Asthma Immunol 2005: 94: S1-63.
30. Bruton OC. Agammaglobulinemia. Pediatrics 1952: 9: 722-8.
31. Berger M, Cupps TR, Fauci AS. Immunoglobulin replacement therapy by slow subcutaneous infusion. Ann Intern Med 1980: 93: 55-6.
32. Gardulf A, Hammarstrom L, Smith CI. Home treatment of hypogammaglobulinaemia with subcutaneous gammaglobulin by rapid infusion. Lancet 1991: 338: 162-6.
33. Gardulf A. Immunoglobulin treatment for primary antibody deficiencies: advantages of the subcutaneous route. BioDrugs 2007: 21: 105-16.
34. Wahn V. Klinischer Einsatz von Immunglobulinen, 4th edn. Bremen, Germany: UNI-MED Verlag, 2007.
35. Cunningham-Rundles C, Siegal FP, Smithwick EM, et al. Efficacy of intravenous immunoglobulin in primary humoral immunodeficiency disease. Ann Intern Med 1984: 101: 435-9.
36. Roifman CM, Lederman HM, Lavi S, Stein LD, Levison H, Gelfand EW. Benefit of intravenous IgG replacement in hypogammaglobulinemic patients with chronic sinopulmonary disease. Am J Med 1985: 79: 171-4.
37. Busse PJ, Razvi S, Cunningham-Rundles C. Efficacy of intravenous immunoglobulin in the prevention of pneumonia in patients with common variable immunodeficiency. J Allergy Clin Immunol 2002: 109: 1001-4.
38. de Gracia J, Vendrell M, Alvarez A, et al. Immunoglobulin therapy to control lung damage in patients with common variable immunodeficiency. Int Immunopharmacol 2004: 4: 745-53.
39. Quartier P, Debre M, De Blic J, et al. Early and prolonged intravenous immunoglobulin replacement therapy in childhood agammaglobulinemia: a retrospective survey of 31 patients. J Pediatr 1999: 134: 589-96.
40. Quartier P, Bustamante J, Sanal O, et al. Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency. Clini Immunol (Orlando, FL) 2004: 110: 22-9.
41. Burks AW, Sampson HA, Buckley RH. Anaphylactic reactions after gamma globulin administration in patients with hypogammaglobulinemia. Detection of IgE antibodies to IgA. N Eng J Med 1986: 314: 560-4.
42. Caress JB, Cartwright MS, Donofrio PD, Peacock JE Jr. The clinical features of 16 cases of stroke associated with administration of IVIg. Neurology 2003: 60: 1822-4.
43. Stamboulis E, Theodorou V, Kilidireas K, Apostolou T. Acute myocardial infarction following intravenous immunoglobulin therapy for chronic inflammatory demyelinating polyneuropathy in association with a monoclonal immunoglobulin G paraprotein. Eur Neurol 2004: 51: 51.
44. Go RS, Call TG. Deep venous thrombosis of the arm after intravenous immunoglobulin infusion: case report and literature review of intravenous immunoglobulin-related thrombotic complications. Mayo Clin Proc 2000: 75: 83-5.
45. Alliot C, Rapin JP, Besson M, Bedjaoui F, Messouak D. Pulmonary embolism after intravenous immunoglobulin. J R Soc Med 2001: 94: 187-8.
46. Kato E, Shindo S, Eto Y, et al. Administration of immune globulin associated with aseptic meningitis. JAMA 1988: 259: 3269-71.
47. Sati HI, Ahya R, Watson HG. Incidence and associations of acute renal failure complicating high-dose intravenous immunoglobulin therapy. Br J Haematol 2001: 113: 556-7.
48. Rachid R, Castells M, Cunningham-Rundles C, Bonilla FA. Association of anti-IgA antibodies with adverse reactions to gamma-globulin infusion. J Allergy Clin Immunol 2011: 128: 228-30 e1.
49. Rachid R, Bonilla FA. The role of anti-IgA antibodies in causing adverse reactions to gamma globulin infusion in immunodeficient patients: a comprehensive review of the literature. J Allergy Clin Immunol doi:10.1016/j.jaci.2011.06.047.
50. Gardulf A, Borte M, Ochs HD, Nicolay U. Prognostic factors for health-related quality of life in adults and children with primary antibody deficiencies receiving SCIG home therapy. Clin Immunol 2008: 126: 81-8.
51. Bhole MV, Burton J, Chapel HM. Self-infusion programmes for immunoglobulin replacement at home: feasibility, safety and efficacy. Immunol Allergy Clin North Am 2008: 28: 821-32, ix.
52. Chapel HM, Spickett GP, Ericson D, Engl W, Eibl MM, Bjorkander J. The comparison of the efficacy and safety of intravenous versus subcutaneous immunoglobulin replacement therapy. J Clin Immunol 2000: 20: 94-100.
53. Beaute J, Levy P, Millet V, et al. Economic evaluation of immunoglobulin replacement in patients with primary antibody deficiencies. Clin Exp Immunol 2010: 160: 240-5.
54. Gardulf A, Andersen V, Bjorkander J, et al. Subcutaneous immunoglobulin replacement in patients with primary antibody deficiencies: safety and costs. Lancet 1995: 345: 365-9.
55. Gaspar J, Gerritsen B, Jones A. Immunoglobulin replacement treatment by rapid subcutaneous infusion. Arch Dis Child 1998: 79: 48-51.
56. Hogy B, Keinecke HO, Borte M. Pharmacoeconomic evaluation of immunoglobulin treatment in patients with antibody deficiencies from the perspective of the German statutory health insurance. Eur J Health Econ 2005: 6: 24-9.
57. Gardulf A, Nicolay U, Asensio O, et al. Rapid subcutaneous IgG replacement therapy is effective and safe in children and adults with primary immunodeficiencies - a prospective, multi-national study. J Clin Immunol 2006: 26: 177-85.
58. Waniewski J, Gardulf A, Hammarstrom L. Bioavailability of gamma-globulin after subcutaneous infusions in patients with common variable immunodeficiency. J Clin Immunol 1994: 14: 90-7.
59. Berger M. Subcutaneous immunoglobulin replacement in primary immunodeficiencies. Clin Immunol 2004: 112: 1-7.
60. Ochs HD, Gupta S, Kiessling P, Nicolay U, Berger M. Safety and efficacy of self-administered subcutaneous immunoglobulin in patients with primary immunodeficiency diseases. J Clin Immunol 2006: 26: 265-73.
61. Stein MR, Nelson RP, Church JA, et al. Safety and efficacy of Privigen, a novel 10% liquid immunoglobulin preparation for intravenous use, in patients with primary immunodeficiencies. J Clin Immunol 2009: 29: 137-44.
62. Skoda-Smith S, Torgerson TR, Ochs HD. Subcutaneous immunoglobulin replacement therapy in the treatment of patients with primary immunodeficiency disease. Ther Clin Risk Manag 2010: 6: 1-10.
63. Thomas MJ, Brennan VM, Chapel HH. Rapid subcutaneous immunoglobulin infusions in children. Lancet 1993: 342: 1432-3.
64. Radinsky S, Bonagura VR. Subcutaneous immunoglobulin infusion as an alternative to intravenous immunoglobulin. J Allergy Clin Immunol 2003: 112: 630-3.
65. Hagan JB, Fasano MB, Spector S, et al. Efficacy and safety of a new 20% immunoglobulin preparation for subcutaneous administration, IgPro20, in patients with primary immunodeficiency. J Clin Immunol 2010: 30: 734-45.
66. Thomas JR, Yocum RC, Haller MF, von Gunten CF. Assessing the role of human recombinant hyaluronidase in gravity-driven subcutaneous hydration: the INFUSE-LR study. J Palliat Med 2007: 10: 1312-20.
67. Frost GI. Recombinant human hyaluronidase (rHuPH20): an enabling platform for subcutaneous drug and fluid administration. Expert Opin Drug Deliv 2007: 4: 427-40.
68. Shapiro R. Subcutaneous immunoglobulin therapy by rapid push is preferred to infusion by pump: a retrospective analysis. J Clin Immunol 2010: 30: 301-7.
69. Misbah S, Sturzenegger MH, Borte M, et al. Subcutaneous immunoglobulin: opportunities and outlook. Clin Exp Immunol 2009: 158 (Suppl 1): 51-9.
70. Shehata N, Palda V, Bowen T, et al. The use of immunoglobulin therapy for patients with primary immune deficiency: an evidence-based practice guideline. Transfus Med Rev 2010: 24 (Suppl 1): S28-50.
71. Gustafson R, Gardulf A, Hansen S, et al. Rapid subcutaneous immunoglobulin administration every second week results in high and stable serum immunoglobulin G levels in patients with primary antibody deficiencies. Clin Exp Immunol 2008: 152: 274-9.
72. Borte M, Bernatowska E, Ochs HD, Roifman CM. Efficacy and safety of home-based subcutaneous immunoglobulin replacement therapy in paediatric patients with primary immunodeficiencies. Clin Exp Immunol 2011: 164: 357-64.
73. Ugazio AG, Duse M, Re R, Mangili G, Burgio GR. Subcutaneous infusion of gammaglobulins in management of agammaglobulinaemia. Lancet 1982: 1: 226.
74. Gardulf A, Bjorvell H, Andersen V, et al. Lifelong treatment with gammaglobulin for primary antibody deficiencies: the patients' experiences of subcutaneous self-infusions and home therapy. J Adv Nurs 1995: 21: 917-27.
75. Favre O, Leimgruber A, Nicole A, Spertini F. Intravenous immunoglobulin replacement prevents severe and lower respiratory tract infections, but not upper respiratory tract and non-respiratory infections in common variable immune deficiency. Allergy 2005: 60: 385-90.
76. Lucas M, Lee M, Lortan J, Lopez-Granados E, Misbah S, Chapel H. Infection outcomes in patients with common variable immunodeficiency disorders: relationship to immunoglobulin therapy over 22years. J Allergy Clin Immunol 2010: 125: 1354-60 e4.
77. Quinti I, Soresina A, Guerra A, et al. Effectiveness of immunoglobulin replacement therapy on clinical outcome in patients with primary antibody deficiencies: results from a multicenter prospective cohort study. J Clin Immunol 2011: 31: 315-22.
78. Orange JS, Grossman WJ, Navickis RJ, Wilkes MM. Impact of trough IgG on pneumonia incidence in primary immunodeficiency: a meta-analysis of clinical studies. Clin Immunol 2010: 137: 21-30.
79. 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.
80. Kainulainen L, Varpula M, Liippo K, Svedstrom E, Nikoskelainen J, Ruuskanen O. Pulmonary abnormalities in patients with primary hypogammaglobulinemia. J Allergy Clin Immunol 1999: 104: 1031-6.
81. Notarangelo LD, Plebani A, Mazzolari E, Soresina A, Bondioni MP. Genetic causes of bronchiectasis: primary immune deficiencies and the lung. Respiration 2007: 74: 264-75.
82. Rich AL, Le Jeune IR, McDermott L, Kinnear WJ. Serial lung function tests in primary immune deficiency. Clin Exp Immunol 2008: 151: 110-3.
83. Haidopoulou K, Calder A, Jones A, Jaffe A, Sonnappa S. Bronchiectasis secondary to primary immunodeficiency in children: longitudinal changes in structure and function. Pediatr Pulmonol 2009: 44: 669-75.
84. Lindberg K, Gustafson R, Samuelson A, Rynnel-Dagoo B. Impact of IgG replacement therapy and antibiotic treatment on the colonization of non-encapsulated Haemophilus influenzae in the nasopharynx in patients with hypogammaglobulinaemia. Scand J Infect Dis 2001: 33: 904-8.
85. Sewell WA, Buckland M, Jolles SR. Therapeutic strategies in common variable immunodeficiency. Drugs 2003: 63: 1359-71.
86. Shalit I. Immunological aspects of new quinolones. Eur J Clin Microbiol Infect Dis 1991: 10: 262-6.
87. Ochs HD, Smith CI, Puck J (eds). Primary Immunodeficiency Diseases. A Molecular and Genetic Approach. Oxford: Oxford University Press, 2007.
88. Plebani A, Fischer MB, Meini A, Duse M, Thon V, Eibl MM. T cell activity and cytokine production in X-linked agammaglobulinemia: implications for vaccination strategies. Int Arch Allergy Immunol 1997: 114: 90-3.
89. Goldacker S, Draeger R, Warnatz K, et al. Active vaccination in patients with common variable immunodeficiency (CVID). Clin Immunol 2007: 124: 294-303.
90. Rezaei N, Aghamohammadi A, Siadat SD, et al. Serum bactericidal antibody responses to meningococcal polysaccharide vaccination as a basis for clinical classification of common variable immunodeficiency. Clin Vaccine Immunol 2008: 15: 607-11.
91. Ko J, Radigan L, Cunningham-Rundles C. Immune competence and switched memory B cells in common variable immunodeficiency. Clin Immunol 2005: 116: 37-41.
92. Pedersen G, Halstensen A, Sjursen H, Naess A, Kristoffersen EK, Cox RJ. Pandemic influenza vaccination elicits influenza-specific CD4(+) Th1-cell responses in hypogammaglobulinaemic patients: four case reports. Scand J Immunol 2011: 74: 210-8.
93. Wang J, Cunningham-Rundles C. Treatment and outcome of autoimmune hematologic disease in common variable immunodeficiency (CVID). J Autoimmun 2005: 25: 57-62.
94. Michel M, Chanet V, Galicier L, et al. Autoimmune thrombocytopenic purpura and common variable immunodeficiency: analysis of 21 cases and review of the literature. Medicine 2004: 83: 254-63.
95. 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.
96. Cunningham-Rundles C. Autoimmune manifestations in common variable immunodeficiency. J Clin Immunol 2008: 28 (Suppl 1): S42-5.
97. Carbone J, Escudero A, Mayayo M, et al. Partial response to anti-CD20 monoclonal antibody treatment of severe immune thrombocytopenic purpura in a patient with common variable immunodeficiency. Ann N Y Acad Sci 2005: 1051: 666-71.
98. El-Shanawany TM, Williams PE, Jolles S. Response of refractory immune thrombocytopenic purpura in a patient with common variable immunodeficiency to treatment with rituximab. J Clin Pathol 2007: 60: 715-6.
99. Mahevas M, Le PageL, Salle V, et al. Efficiency of rituximab in the treatment of autoimmune thrombocytopenic purpura associated with common variable immunodeficiency. Am J Hematol 2006: 81: 645-6.
100. Wakim M, Shah A, Arndt PA, et al. Successful anti-CD20 monoclonal antibody treatment of severe autoimmune hemolytic anemia due to warm reactive IgM autoantibody in a child with common variable immunodeficiency. Am J Hematol 2004: 76: 152-5.
101. Notarangelo LD. Primary immunodeficiencies (PIDs) presenting with cytopenias. Hematology Am Soc Hematol Educ Program 2009: 139-43.
102. Mechanic LJ, Dikman S, Cunningham-Rundles C. Granulomatous disease in common variable immunodeficiency. Ann Intern Med 1997: 127: 613-7.
103. Knight AK, Cunningham-Rundles C. Inflammatory and autoimmune complications of common variable immune deficiency. Autoimmun Rev 2006: 5: 156-9.
104. Hatab AZ, Ballas ZK. Caseating granulomatous disease in common variable immunodeficiency treated with infliximab. J Allergy Clin Immunol 2005: 116: 1161-2.
105. Thatayatikom A, Thatayatikom S, White AJ. Infliximab treatment for severe granulomatous disease in common variable immunodeficiency: a case report and review of the literature. Ann Allergy Asthma Immunol 2005: 95: 293-300.
106. Smith KJ, Skelton H. Common variable immunodeficiency treated with a recombinant human IgG, tumour necrosis factor-alpha receptor fusion protein. Br J Dermatol 2001: 144: 597-600.
107. Chua I, Standish R, Lear S, et al. Anti-tumour necrosis factor-alpha therapy for severe enteropathy in patients with common variable immunodeficiency (CVID). Clin Exp Immunol 2007: 150: 306-11.
108. Agarwal S, Cunningham-Rundles C. Autoimmunity in common variable immunodeficiency. Curr Allergy Asthma Rep 2009: 9: 347-52.
109. Mazzolari E, Lanzi G, Forino C, et al. First report of successful stem cell transplantation in a child with CD40 deficiency. Bone Marrow Transplant 2007: 40: 279-81.
110. Jacobsohn DA, Emerick KM, Scholl P, et al. Nonmyeloablative hematopoietic stem cell transplant for X-linked hyper-immunoglobulin M syndrome with cholangiopathy. Pediatrics 2004: 113: e122-7.
111. Serana F, Airo P, Chiarini M, et al. Thymic and bone marrow output in patients with common variable immunodeficiency. J Clin Immunol 2011: 31: 540-9.
112. Nakagawa N, Imai K, Kanegane H, et al. Quantification of kappa-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects. J Allergy Clin Immunol 2011: 128: 223-5 e2.
113. Tahara M, Pergolizzi RG, Kobayashi H, et al. Trans-splicing repair of CD40 ligand deficiency results in naturally regulated correction of a mouse model of hyper-IgM X-linked immunodeficiency. Nat Med 2004: 10: 835-41.
114. Brown MP, Topham DJ, Sangster MY, et al. Thymic lymphoproliferative disease after successful correction of CD40 ligand deficiency by gene transfer in mice. Nat Med 1998: 4: 1253-60.
115. Ng YY, Baert MR, Pike-Overzet K, et al. Correction of B-cell development in Btk-deficient mice using lentiviral vectors with codon-optimized human BTK. Leukemia 2010: 24: 1617-30.
116. Bonagura VR, Marchlewski R, Cox A, Rosenthal DW. Biologic IgG level in primary immunodeficiency disease: the IgG level that protects against recurrent infection. J Allergy Clin Immunol 2008: 122: 210-2.