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1002           Part VII:  Neutrophils, Eosinophils, Basophils, and Mast Cells                                                                                                Chapter 65:  Neutropenia and Neutrophilia           1003




               REFERENCES                                               35.  Dror Y, Ward AC, Touw IP, Freedman MH: Combined corticosteroid/granulocyte
                                                                         colony-stimulating factor (G-CSF) therapy in the treatment of severe congenital
                 1.  Haddy TB, Rana SR, Castro O: Benign ethnic neutropenia: What is a normal absolute   neutropenia unresponsive to G-CSF: Activated glucocorticoid receptors synergize with
                  neutrophil count? J Lab Clin Med 133:15, 1999.         G-CSF signals. Exp Hematol 28:1381, 2000.
                 2.  Denic S, Showqi S, Klein C, et al: Prevalence, phenotype and inheritance of benign     36.  Triot A, Järvinen PM, Arostegui JI, et al: Inherited biallelic CSF3R mutations in severe
                  neutropenia in Arabs. BMC Blood Disord 9:3, 2009.      congenital neutropenia. Blood 123:3811, 2014.
                 3.  Koury MJ, Price JO, Hicks GG: Apoptosis in megaloblastic anemia occurs during DNA     37.  Skokowa J, Lan D, Thakur BK, et al: NAMPT is essential for the G-CSF-induced mye-
                  synthesis by a p53-independent, nucleoside-reversible  mechanism.  Blood 96:3249,   loid differentiation via a NAD(+)-sirtuin-1-dependent pathway. Nat Med 15:151, 2009.
                  2000.                                                 38.  Dale DC, Bolyard AA, Schwinzer BG, et al: The Severe Chronic Neutropenia Interna-
                 4.  Kerbauy DB, Deeg HJ: Apoptosis and antiapoptotic mechanisms in the progression of   tional Registry: 10-Year follow-up report. Support Cancer Ther 3:220, 2006.
                  myelodysplastic syndrome. Exp Hematol 35:1739, 2007.    39.  Zeidler C, Welte K, Barak Y, et al: Stem cell transplantation in patients with severe con-
                 5.  Kawai T, Malech HL: WHIM syndrome: Congenital immune deficiency disease. Curr   genital neutropenia without evidence of leukemic transformation. Blood 95:1195, 2000.
                  Opin Hematol 16:20, 2009.                             40.  Choi SW, Boxer LA, Pulsipher MA, et al: Stem cell transplantation in patients with
                 6.  Aprikyan AA, Liles WC, Rodger E, et al: Impaired survival of bone marrow hematopoi-  severe congenital neutropenia with evidence of leukemic transformation. Bone Marrow
                  etic progenitor cells in cyclic neutropenia. Blood 97:147, 2001.  Transplant 35:473, 2005.
                 7.  Ward AC, Dale DC: Genetic and molecular diagnosis of severe congenital neutropenia.     41.  Rosenberg PS, Alter BP, Bolyard AA, et al: The incidence of leukemia and mortality
                  Curr Opin Hematol 16:9, 2009.                          from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF
                 8.  Watanabe K, Ambekar C, Wang H, et al: SBDS-deficiency results in specific hypersen-  therapy. Blood 107:4628, 2006.
                  sitivity to Fas stimulation and accumulation of Fas at the plasma membrane. Apoptosis     42.  Skokowa J, Steinemann D, Katsman-Kuipers JE, et al: Cooperativity of RUNX1 and
                  14:77, 2009.                                           CSF3R mutations in severe congenital neutropenia: A unique pathway in myeloid leu-
                 9.  Bux J: Molecular nature of antigens implicated in immune neutropenias. Int J Hematol   kemogenesis. Blood 123:2229, 2014.
                  76:399, 2002.                                         43.  Cham B, Bonilla MA, Winkelstein J: Neutropenia associated with primary immunode-
                 10.  Palmblad J, Papdaki HA: Chronic idiopathic neutropenias and severe congenital neu-  ficiency syndromes. Semin Hematol 39:107, 2002.
                  tropenia. Curr Opin Hematol 15:8, 2008.               44.  Rezael N, Aghamohammadi A, Ramyar A, et al: Severe congenital neutropenia or hyper-
                 11.  Melis D, Fulceri R, Parenti G, et al: Genotype/phenotype correlation in glycogen stor-  IgM syndrome? A novel mutation of CD40 ligand in a patient with severe neutropenia.
                  age disease type 1b: A multicentre study and review of the literature. Eur J Pediatr   Int Arch Allergy Immunol 147:255, 2008.
                  164:501, 2005.                                        45.  Albert MH, Notarangelo LD, Ochs HD. Clinical spectrum, pathophysiology and treat-
                 12.  Kaplan J, De Domenico I, Ward DM: Chediak-Higashi syndrome. Curr Opin Hematol   ment of the Wiskott-Aldrich syndrome. Curr Opin Hematol 18:42, 2011.
                  15:22, 2008.                                          46.  Dupuis-Girod S, Medioni J, Haddad E, et al: Autoimmunity in Wiskott-Aldrich syn-
                 13.  Kaul D, Coffey MJ, Phare SM, Kazanjian PH: Capacity of neutrophils and monocytes   drome: Risk factors, clinical features, and outcome in a single-center cohort of 55 patients.
                  from human immunodeficiency virus-infected patients and healthy controls to inhibit   Pediatrics 111:e622, 2003.
                  growth of Mycobacterium bovis. J Lab Clin Med 141:330, 2003.    47.  Horman SR, Velu CS, Chaubey A, et al: Gfi1 integrates progenitor versus granulocytic
                 14.  Kostmann R: Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria.   transcriptional programming. Blood 113:5466, 2009.
                  Acta Paediatr 45:1, 1956.                             48.  Berthet F, Siegrist CA, Ozsahin H, et al: Bone marrow transplantation in cartilage-hair
                 15.  Dale DC, Link DC: The many causes of severe congenital neutropenia. N Engl J Med   hypoplasia: Correction of the immunodeficiency but not of the chondrodysplasia. Eur
                  360:3, 2009.                                           J Pediatr 155:286, 1996.
                 16.  Zeidler C, Germeshausen M, Klein C: Clinical implications of ELA2-, HAX1- and     49.  Ammann RA, Duppenthaler A, Bux J, et al: Granulocyte colony-stimulating factor-
                  G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. Br J Haematol   responsive chronic neutropenia in cartilage-hair hypoplasia. J Pediatr Hematol Oncol
                  144:459, 2009.                                         26:379, 2004.
                 17.  Welte K, Zeidler C, Dale DC: Severe congenital neutropenia. Semin Hematol 43:189,     50.  Boocock GR, Morrison JA, Popovic M, et al: Mutations in SBDS are associated with
                  2006.                                                  Shwachman-Diamond syndrome. Nat Genet 33:97, 2003.
                 18.  Konishi N, Kobayashi M, Miyagawa S: Defective proliferation of primitive myeloid pro-    51.  Dror Y, Freedman MH: Shwachman-Diamond syndrome marrow cells show abnor-
                  genitor cells in patients with severe congenital neutropenia. Blood 94:4077, 1999.  mally increased apoptosis mediated through the Fas pathway. Blood 97:3011, 2001.
                 19.  Dale DC, Person RE, Bolyard AA, et al: Mutations in the gene encoding neutrophil     52.  Orelio C, Kujpers TW: Shwachman-Diamond syndrome neutrophils have altered che-
                  elastase in congenital and cyclic neutropenia. Blood 96:2317, 2000.  moattractant-induced F-actin polymerization and polarization characteristics. Haema-
                 20.  Köllner I, Sodeik B, Schreek S, et al: Mutations in neutrophil elastase causing congenital   tologica 94:409, 2009.
                  neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded     53.  Shimamura A: Shwachman-Diamond syndrome. Semin Hematol 43:178, 2006.
                  protein response. Blood 108:493, 2006.                54.  Willig TN, Gazda H, Sieff CA: Diamond-Blackfan anemia. Curr Opin Hematol 7:85,
                 21.  Bellanne-Chantelot C, Clauin S, Leblanc T, et al: Mutations in the ELA2 gene correlate   2000.
                  with more severe expression of neutropenia: A study of 81 patients from the French     55.  Orfali KA, Ohene-Abuakwa Y, Ball SE: Diamond Blackfan anaemia in the UK: Clinical
                  Neutropenia Register. Blood 103:4119, 2004.            and genetic heterogeneity. Br J Haematol 125:243, 2004
                 22.  Ancliff PJ, Gale RE, Linch DC: Neutrophil elastase mutations in congenital neutrope-    56.  Campagnoli MF, Garelli E, Quarello P, et al: Molecular basis of Diamond-Blackfan ane-
                  nia. Hematology 8:165, 2003.                           mia: New findings from the Italian registry and a review of the literature. Haematolog-
                 23.  Makaryan V, Zeidler C, Bolyard AA, et al: The diversity of mutations and clinical out-  ica 89:480, 2004.
                  comes for ELANE-associated neutropenia. Curr Opin Hematol 22:3, 2015.    57.  Griscelli C, Durandy A, Guy-Grand D, et al: A syndrome associating partial albinism
                 24.  Klein C, Grudzien M, Appaswamy G, et al: HAX1 deficiency causes autosomal recessive   and immunodeficiency. Am J Med 65:691, 1978.
                  severe congenital neutropenia (Kostmann disease). Nat Genet 39:86, 2007.    58.  Menasche G, Pastural E, Feldmann J, et al: Mutations in RAB27A cause Griscelli syn-
                 25.  Skokowa J, Klimiankou M, Klimenkova O, et al: Interactions among HCLS1, HAX1   drome associated with haemophagocytic syndrome. Nat Genet 25:173, 2000.
                  and LEF-1 proteins are essential for G-CSF-triggered granulopoiesis. Nat Med 18:1550,     59.  Sanal O, Ersoy F, Tezcan I, et al: Griscelli disease: Genotype-phenotype correlation in
                  2012.                                                  an array of clinical heterogeneity. J Clin Immunol 22:237, 2002.
                 26.  Boztug K, Appaswamy G, Ashikov A, et al: A syndrome with congenital neutropenia     60.  Baumeister FA, Stachel D, Schuster F, et al: Accelerated phase in partial albinism with
                  and mutations in G6PC3. N Engl J Med 360:32, 2009.     immunodeficiency (Griscelli syndrome): Genetics and stem cell transplantation in a
                 27.  Person RE, Li FQ, Duan Z, Benson KF: Mutations in proto-oncogene GFI1 cause   2-month-old girl. Eur J Pediatr 159:74, 2000.
                  human neutropenia and target ELA2. Nat Genet 34:308, 2003.    61.  Barbosa MD, Nguyen QA, Tchernev VT, et al: Identification of the homologous beige
                 28.  Devriendt K, Kim AS, Mathijs G, et al: Constitutively activating mutation in WASP   and Chediak-Higashi syndrome genes. Nature 382:262, 1996.
                  causes X-linked severe congenital neutropenia. Nat Genet 27:313, 2001.    62.  Introne  W,  Boissy  RE,  Gahl  WA:  Clinical,  molecular,  and  cell  biological  aspects  of
                 29.  Bohn G, Allroth A, Brandes G, et al: A novel human primary immunodeficiency syn-    Chediak-Higashi syndrome. Mol Genet Metab 68:283, 1999.
                  drome caused by deficiency of the endosomal adaptor protein p14. Nat Med 13:38, 2007.    63.  Kawai T, Malech HL: WHIM syndrome: Congenital immune deficiency disease. Curr
                 30.  Barth PG, Valianpour F, Bowen VM, et al: X-linked cardioskeletal myopathy and neu-  Opin Hematol 16:20, 2009.
                  tropenia (Barth syndrome): An update. Am J Med Genet A 126:349, 2004.    64.  Gorlin RJ, Gelb B, Diaz GA, et al: WHIM syndrome, an autosomal dominant disorder:
                 31.  Boztug K, Järvinen PM, Salzer E, et al: JAGN1 deficiency causes aberrant myeloid cell   Clinical, hematological, and molecular studies. Am J Med Genet 91:368, 2000.
                  homeostasis and congenital neutropenia. Nat Genet 46:1021, 2014.    65.  Hernandez PA, Gorlin RJ, Lukens JN, et al: Mutations in the chemokine receptor gene
                 32.  Makaryan V, Rosenthal EA, Bolyard AA, et al: TCIRG1-associated congenital neutro-  CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease.
                  penia. Hum Mutat 35:824, 2014.                         Nat Genet 34:70, 2003.
                 33.  Dong F, Brynes RK, Tidow N, et al: Mutations in the gene for the granulocyte colony-    66.  Rassam SM, Roderick P, al-Hakim I, Hoffrand AV: A myelokathexis-like variant of
                  stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe   myelodysplasia. Eur J Haematol 42:99, 1989.
                  congenital neutropenia. N Engl J Med 333:487, 1995.    67.  Seifert W, Holder-Espinasse M, Kühnisch J, et al: Expanded mutational spectrum in
                 34.  Germeshausen M, Ballmaier M, Welte K. Incidence of CSF3R mutations in severe con-  Cohen syndrome, tissue expression, and transcript variants of COH1.  Hum Mutat
                  genital neutropenia and relevance for leukemogenesis: Results of a long-term survey.   30:E404, 2009.
                  Blood 109:93, 2007.                                   68.  Kannourakis G: Glycogen storage disease. Semin Hematol 39:103, 2002.






          Kaushansky_chapter 65_p0991-1004.indd   1002                                                                  9/17/15   6:44 PM
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