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CHaPTEr 35 Primary T-Cell Immunodeficiencies 507

type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). 62. Grunebaum E, Kim VH, Somers GR, et al. Bone marrow transplantation
Blood [Research Support, Non-U.S. Gov’t]. 2011;117(5):1522–9. for monoallelic signal transducer and activator of transcription 1
45. Booth C, Gilmour KC, Veys P, et al. X-linked lymphoproliferative deficiency. J Allergy Clin Immunol 2016.
disease due to SAP/SH2D1A deficiency: a multicenter study on the 63. Merico D, Sharfe N, Hu P, et al. RelB deficiency causes combined
manifestations, management and outcome of the disease. Blood immunodeficiency. LymphoSign Journal. 2015;2(3):147–55.
[Multicenter Study Research Support, Non-U.S. Gov’t]. 2011;117(1): 64. Millet P, McCall C, Yoza B. RelB: an outlier in leukocyte biology. J Leukoc
53–62. Biol [Research Support, N.I.H., Extramural Review]. 2013;94(5):941–51.
46. Worthey EA, Mayer AN, Syverson GD, et al. Making a definitive 65. Haynes A, Kamra P, Roifman CM Heterozygous mutations in RelB can be
diagnosis: successful clinical application of whole exome sequencing associated with immune dysregulation and lymphoma. LymphoSign
in a child with intractable inflammatory bowel disease. Genet Med Journal. 2016;3(2):55–60.
[Case Reports Research Support, Non-U.S. Gov’t]. 2011;13(3): 66. Sharfe N, Merico D, Karanxha A, et al. The effects of RelB deficiency on
255–62. lymphocyte development and function. J Autoimmun [Research Support,
47. Aldrich RA, Steinberg AG, Campbell DC. Pedigree demonstrating a Non-U.S. Gov’t]. 2015;65:90–100.
sex-linked recessive condition characterized by draining ears, eczematoid 67. Puck JM. Laboratory technology for population-based screening
dermatitis and bloody diarrhea. Pediatrics 1954;13(2):133–9. for severe combined immunodeficiency in neonates: the winner is
48. Aiuti A, Biasco L, Scaramuzza S, et al. Lentiviral hematopoietic stem cell T-cell receptor excision circles. J Allergy Clin Immunol [Research
gene therapy in patients with Wiskott-Aldrich syndrome. Science Support, N.I.H., Extramural Research Support, Non-U.S. Gov’t].
[Clinical Trial, Phase I Clinical Trial, Phase II Research Support, Non-U.S. 2012;129(3):607–16.
Gov’t]. 2013;341(6148):1233151. 68. Grunebaum E, Mazzolari E, Porta F, et al. Bone marrow transplantation
49. Roifman CM. Immunological aspects of a novel immunodeficiency for severe combined immune deficiency. JAMA [Comparative Study
syndrome that includes antibody deficiency with normal Multicenter Study Research Support, Non-U.S. Gov’t]. 2006;295(5):
immunoglobulins, spondyloepiphyseal dysplasia, growth and 508–18.
developmental delay, and retinal dystrophy. J Allergy Clin Immunol 69. Gennery AR, Slatter MA, Grandin L, et al. Transplantation of
1997;2:94–8. hematopoietic stem cells and long-term survival for primary
50. Roifman CM, Costa TC. A novel syndrome including combined immunodeficiencies in Europe: entering a new century, do we do better? J
immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia. Allergy Clin Immunol [Historical Article]. 2010;126(3):602–10.e1-11.
J Allergy Clin Immunol 2000;5(1):6–9. 70. Dalal I, Reid B, Doyle J, et al. Matched unrelated bone marrow
51. Renella R, Superti-Furga A. A new case of spondyloenchondrodysplasia transplantation for combined immunodeficiency. Bone Marrow
with immune dysregulation confirms the pleiotropic nature of the Transplant [Multicenter Study Research Support, Non-U.S. Gov’t].
disorder: comment on “A syndrome of immunodeficiency, autoimmunity, 2000;25(6):613–21.
and spondylometaphyseal dysplasia” by M.L. Kulkarni, K. Baskar, and 71. Mazzolari E, Forino C, Guerci S, et al. Long-term immune reconstitution
P.M. Kulkarni [2006]. Am J Med Genet A [Comment Letter]. and clinical outcome after stem cell transplantation for severe T-cell
2007;143A(12):1394–5. immunodeficiency. J Allergy Clin Immunol [Research Support, Non-U.S.
52. Briggs TA, Rice GI, Daly S, et al. Tartrate-resistant acid phosphatase Gov’t]. 2007;120(4):892–9.
deficiency causes a bone dysplasia with autoimmunity and a type I 72. Roifman CM, Grunebaum E, Dalal I, et al. Matched unrelated bone
interferon expression signature. Nat Genet [Research Support, Non-U.S. marrow transplant for severe combined immunodeficiency. Immunol Res
Gov’t]. 2011;43(2):127–31. 2007;38(1-3):191–200.
53. Lausch E, Janecke A, Bros M, et al. Genetic deficiency of tartrate-resistant 73. Antoine C, Muller S, Cant A, et al. Long-term survival and
acid phosphatase associated with skeletal dysplasia, cerebral calcifications transplantation of haemopoietic stem cells for immunodeficiencies:
and autoimmunity. Nat Genet [Research Support, Non-U.S. Gov’t]. report of the European experience 1968-99. Lancet [Research Support,
2011;43(2):132–7. Non-U.S. Gov’t]. 2003;361(9357):553–60.
54. Georgopoulos K, Moore DD, Derfler B. Ikaros, an early lymphoid-specific 74. Caillat-Zucman S, Le Deist F, Haddad E, et al. Impact of HLA matching
transcription factor and a putative mediator for T cell commitment. on outcome of hematopoietic stem cell transplantation in children with
Science [Research Support, Non-U.S. Gov’t]. 1992;258(5083):808–12. inherited diseases: a single-center comparative analysis of genoidentical,
55. Goldman FD, Gurel Z, Al-Zubeidi D, et al. Congenital pancytopenia and haploidentical or unrelated donors. Bone Marrow Transplant
absence of B lymphocytes in a neonate with a mutation in the Ikaros [Comparative Study Research Support, Non-U.S. Gov’t]. 2004;33(11):
gene. Pediatr Blood Cancer [Case Reports Research Support, N.I.H., 1089–95.
Extramural Research Support, Non-U.S. Gov’t]. 2012;58(4):591–7. 75. Patel NC, Chinen J, Rosenblatt HM, et al. Outcomes of patients with
56. Jyonouchi S, Forbes L, Ruchelli E, et al. Dyskeratosis congenita: a severe combined immunodeficiency treated with hematopoietic stem cell
combined immunodeficiency with broad clinical spectrum—a single- transplantation with and without preconditioning. J Allergy Clin
center pediatric experience. Pediatr Allergy Immunol [Review]. Immunol [Comparative Study]. 2009;124(5):1062–9, e1-4.
2011;22(3):313–19. 76. Ben-Barouch S, Cohen O, Vidal L, et al. Busulfan fludarabine vs busulfan
57. Walne AJ, Vulliamy T, Kirwan M, et al. Constitutional mutations in cyclophosphamide as a preparative regimen before allogeneic
RTEL1 cause severe dyskeratosis congenita. Am J Hum Genet [Research hematopoietic cell transplantation: systematic review and meta-analysis.
Support, Non-U.S. Gov’t]. 2013;92(3):448–53. Bone Marrow Transplant 2016;51(2):232–40.
58. van de Veerdonk FL, Plantinga TS, Hoischen A, et al. STAT1 mutations in 77. Chiesa R, Veys P. Reduced-intensity conditioning for allogeneic stem cell
autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med transplant in primary immune deficiencies. Expert Rev Clin Immunol
[Research Support, Non-U.S. Gov’t]. 2011;365(1):54–61. [Review]. 2012;8(3):255–66, quiz 67.
59. Liu L, Okada S, Kong XF, et al. Gain-of-function human STAT1 78. Dvorak CC, Hassan A, Slatter MA, et al. Comparison of outcomes
mutations impair IL-17 immunity and underlie chronic mucocutaneous of hematopoietic stem cell transplantation without chemotherapy
candidiasis. J Exp Med [Research Support, N.I.H., Extramural Research conditioning by using matched sibling and unrelated donors for
Support, Non-U.S. Gov’t]. 2011;208(8):1635–48. treatment of severe combined immunodeficiency. J Allergy Clin
60. Sharfe N, Nahum A, Newell A, et al. Fatal combined immunodeficiency Immunol [Comparative Study Multicenter Study Research Support,
associated with heterozygous mutation in STAT1. J Allergy Clin Immunol N.I.H., Extramural Research Support, Non-U.S. Gov’t]. 2014;134(4):935–
[Case Reports Research Support, Non-U.S. Gov’t]. 2014;133(3):807–17. 43.e15.
61. Faitelson Y, Bates A, Shroff M, et al. LymphoSign Journal. 79. Paczesny S, Choi SW, Ferrara JL. Acute graft-versus-host disease: new
2014;1(2):87–95. treatment strategies. Curr Opin Hematol [Review]. 2009;16(6):427–36.