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Chapter 51  Congenital Disorders of Lymphocyte Function  723.e3


             89.  Pai  SY,  Notarangelo  LD:  Hematopoietic  cell  transplantation  for   108.  Sharfe N, Dadi HK, Shahar M, et al: Human immune disorder arising
                Wiskott-Aldrich syndrome: advances in biology and future directions   from mutation of the alpha chain of the interleukin-2 receptor. Proc
                for treatment. Immunol Allergy Clin North Am 30(2):179–194, 2010.  Natl Acad Sci USA 94(7):3168–3171, 1997.
             90.  Pannicke  U,  Baumann  B,  Fuchs  S,  et al:  Deficiency  of  innate  and   109.  Schubert D, Bode C, Kenefeck R, et al: Autosomal dominant immune
                acquired  immunity  caused  by  an  IKBKB  mutation.  N  Engl  J  Med   dysregulation syndrome in humans with CTLA4 mutations. Nat Med
                369(26):2504–2514, 2013.                              20(12):1410–1416, 2014.
             91.  Parkman  R,  Gelfand  EW,  Rosen  FS,  et al:  Severe  combined  immu-  110.  Schwarz K, Gauss GH, Ludwig L, et al: RAG mutations in human B
                nodeficiency  and  adenosine  deaminase  deficiency.  N  Engl  J  Med   cell-negative SCID. Science 274(5284):97–99, 1996.
                292(14):714–719, 1975.                            111.  Shiow L, Roadcap D, Paris K, et al: The actin regulator coronin 1A is
             92.  Picard C, McCarl C-A, Papolos A, et al: STIM1 mutation associated   mutant in a thymic egress-deficient mouse strain and in a patient with
                with a syndrome of immunodeficiency and autoimmunity. N Engl J   severe combined immunodeficiency. Nat Immunol 2008.
                Med 360(19):1971–1980, 2009.                      112.  Snow  AL,  Xiao  W,  Stinson  JR,  et al:  Congenital  B  cell  lymphocy-
             93.  Picard C, Fischer A: Hematopoietic stem cell transplantation and other   tosis  explained  by  novel  germline  CARD11  mutations.  J  Exp  Med
                management strategies for MHC class II deficiency. Immunol Allergy   209(12):2247–2261, 2012.
                Clin North Am 30(2):173–178, 2010.                113.  Soudais C, de Villartay JP, Le Deist F, et al: Independent mutations
             94.  Puck JM, Deschênes SM, Porter JC, et al: The interleukin-2 receptor   of the human CD3-epsilon gene resulting in a T cell receptor/CD3
                gamma chain maps to Xq13.1 and is mutated in X-linked severe com-  complex immunodeficiency. Nat Genet 3(1):77–81, 1993.
                bined immunodeficiency, SCIDX1. Hum Mol Genet 2(8):1099–1104,   114.  Stepensky P, Keller B, Buchta M, et al: Deficiency of caspase recruit-
                1993.                                                 ment domain family, member 11 (CARD11), causes profound com-
             95.  Puel  A,  Ziegler  SF,  Buckley  RH,  et al:  Defective  IL7R  expression   bined  immunodeficiency  in  human  subjects.  J  Allergy  Clin  Immunol
                in  T(-)B(+)NK(+)  severe  combined  immunodeficiency.  Nat  Genet   131(2):477–485, e1, 2013.
                20(4):394–397, 1998.                              115.  Stepensky  P,  Rensing-Ehl  A,  Gather  R,  et al:  Early-onset  Evans  syn-
             96.  Railey MD, Lokhnygina Y, Buckley RH: Long-term clinical outcome of   drome, immunodeficiency, and premature immunosenescence associ-
                patients with severe combined immunodeficiency who received related   ated  with  tripeptidyl-peptidase  II  deficiency.  Blood  125(5):753–761,
                donor bone marrow transplants without pretransplant chemotherapy   2015.
                or post-transplant GVHD prophylaxis. J Pediatr 155(6):834–840, e1,   116.  Szabolcs P, Cavazzana-Calvo M, Fischer A, et al: Bone marrow trans-
                2009.                                                 plantation for primary immunodeficiency diseases. Pediatr Clin North
             97.  Rezaei N, Mahmoudi E, Aghamohammadi A, et al: X-linked lymphop-  Am 57(1):207–237, 2010.
                roliferative syndrome: a genetic condition typified by the triad of infec-  117.  Su  HC,  Jing  H,  Zhang  Q:  DOCK8  deficiency.  Ann  N Y  Acad  Sci
                tion, immunodeficiency and lymphoma. Br J Haematol 152(1):13–30,   1246:26–33, 2011.
                2011.                                             118.  Torgerson TR, Ochs HD: Regulatory T cells in primary immunodefi-
             98.  Rieux-Laucat  F,  Hivroz  C,  Lim  A,  et al:  Inherited  and  somatic   ciency diseases. Curr Opin Allergy Clin Immunol 7(6):515–521, 2007.
                CD3zeta mutations in a patient with T-cell deficiency. N Engl J Med   119.  Torres  JM,  Martinez-Barricarte  R,  García-Gómez  S,  et al:  Inherited
                354(18):1913–1921, 2006.                              BCL10  deficiency  impairs  hematopoietic  and  nonhematopoietic
             99.  Rigaud  S,  Fondanèche  M-C,  Lambert  N,  et al:  XIAP  deficiency  in   immunity. J Clin Invest 124(12):5239–5248, 2014.
                humans  causes  an  X-linked  lymphoproliferative  syndrome.  Nature   120.  Tsukada S, Saffran DC, Rawlings DJ, et al: Deficient expression of a B
                444(7115):110–114, 2006.                              cell cytoplasmic tyrosine kinase in human X-linked agammaglobulin-
            100.  Roifman CM, Dadi H, Somech R, et al: Characterization of (-associ-  emia. Cell 72(2):279–290, 1993.
                ated protein, 70 kd (ZAP70)-deficient human lymphocytes. J Allergy   121.  van de Veerdonk FL, Plantinga TS, Hoischen A, et al: STAT1 muta-
                Clin Immunol 126(6):1226–1233, 2010.                  tions  in  autosomal  dominant  chronic  mucocutaneous  candidiasis.  N
            101.  Roscioli T, Cliffe ST, Bloch DB, et al: Mutations in the gene encoding   Engl J Med 365(1):54–61, 2011.
                the PML nuclear body protein Sp110 are associated with immunode-  122.  Vetrie D, Vorechovsky I, Sideras P, et al: The gene involved in X-linked
                ficiency and hepatic veno-occlusive disease. Nat Genet 38(6):620–622,   agammaglobulinaemia is a member of the src family of protein-tyrosine
                2006.                                                 kinases. Nature 361(6409):226–233, 1993.
            102.  Routes JM, Grossman WJ, Verbsky J, et al: Statewide newborn screen-  123.  Villa A, Santagata S, Bozzi F, et al: Partial V(D)J recombination activity
                ing for severe T-cell lymphopenia. JAMA 302(22):2465–2470, 2009.  leads to Omenn syndrome. Cell 93(5):885–896, 1998.
            103.  Salzer  E,  Santos-Valente  E,  Klaver  S,  et al:  B-cell  deficiency  and   124.  Vissers LELM, van Ravenswaaij CMA, Admiraal R, et al: Mutations
                severe autoimmunity caused by deficiency of protein kinase C. Blood   in a new member of the chromodomain gene family cause CHARGE
                121(16):3112–3116, 2013.                              syndrome. Nat Genet 36(9):955–957, 2004.
            104.  Salzer E, Daschkey S, Choo S, et al: Combined immunodeficiency with   125.  Wildin  RS,  Ramsdell  F,  Peake  J,  et al:  X-linked  neonatal  diabetes
                life-threatening EBV-associated lymphoproliferative disorder in patients   mellitus,  enteropathy  and  endocrinopathy  syndrome  is  the  human
                lacking functional CD27. Haematologica 98(3):473–478, 2013.  equivalent of mouse scurfy. Nat Genet 27(1):18–20, 2001.
            105.  Salzer U, Chapel HM, Webster ADB, et al: Mutations in TNFRSF13B   126.  Zhang Q, Davis JC, Lamborn IT, et al: Combined immunodeficiency
                encoding TACI are associated with common variable immunodeficiency   associated with DOCK8 mutations. N Engl J Med 361(21):2046–2055,
                in humans. Nat Genet 37(8):820–828, 2005.             2009.
            106.  Samuels ME, Majewski J, Alirezaie N, et al: Exome sequencing identi-  127.  Zimmer  J,  Andrès  E,  Donato  L,  et al:  Clinical  and  immunological
                fies  mutations  in  the  gene  TTC7A  in  French-Canadian  cases  with   aspects of HLA class I deficiency. QJM 98(10):719–727, 2005.
                hereditary  multiple  intestinal  atresia.  J  Med  Genet  50(5):324–329,   128.  Zonana J, Elder ME, Schneider LC, et al: A novel X-linked disorder of
                2013.                                                 immune deficiency and hypohidrotic ectodermal dysplasia is allelic to
            107.  Sayos  J,  Wu  C,  Morra  M,  et al:  The  X-linked  lymphoproliferative-  incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).
                disease  gene  product  SAP  regulates  signals  induced  through  the   Am J Hum Genet 67(6):1555–1562, 2000.
                co-receptor SLAM. Nature 395(6701):462–469, 1998.
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