Page 1261 - Williams Hematology ( PDFDrive )
P. 1261

1236           Part IX:  Lymphocytes and Plasma Cells                                                                                                                          Chapter 80:  Immunodeficiency Diseases            1237




                 232. zur Stadt U, Schmidt S, Kasper B, et al: Linkage of familial hemophagocytic lympho-    261. Damgaard RB, Nachbur U, Yabal M, et al: The ubiquitin ligase XIAP recruits LUBAC
                  histiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syn-  for NOD2 signaling in inflammation and innate immunity. Mol Cell 46:746–758, 2012.
                  taxin 11. Hum Mol Genet 14:827–834, 2005.             262. Gifford CE, Weingartner E, Villanueva J, et al: Clinical flow cytometric screening of
                 233. Cote M, Menager MM, Burgess A, et al: Munc18–2 deficiency causes familial hemo-  SAP and XIAP expression accurately identifies patients with SH2D1A and XIAP/
                  phagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in   BIRC4 mutations. Cytometry B Clin Cytom 86:263–271, 2014.
                  patient NK cells. J Clin Invest 119:3765–3773, 2009.    263. Seemayer TA, Gross TG, Egeler RM, et al: X-linked lymphoproliferative disease: Twenty-five
                 234. Janka GE: Hemophagocytic syndromes. Blood Rev 21:245–253, 2007.  years after the discovery. Pediatr Res 38:471–478, 1995.
                 235. Trizzino A, zur Stadt U, Ueda I, et al: Genotype-phenotype study of familial haemo-    264. Lankester AC, Visser LF, Hartwig NG, et al: Allogeneic stem cell transplantation in
                  phagocytic lymphohistiocytosis due to perforin mutations.  J Med Genet 45:15–21,   X-linked lymphoproliferative disease: Two cases in one family and review of the litera-
                  2008.                                                  ture. Bone Marrow Transplant 36:99–105, 2005.
                 236. Ueda I, Kurokawa Y, Koike K, et al: Late-onset cases of familial hemophagocytic lym-    265. Milone MC, Tsai DE, Hodinka RL, et al: Treatment of primary Epstein-Barr virus infec-
                  phohistiocytosis with missense perforin gene mutations. Am J Hematol 82:427–432,   tion in patients with X-linked lymphoproliferative disease using B-cell-directed ther-
                  2007.                                                  apy. Blood 105:994–996, 2005.
                 237. Rudd E, Bryceson YT, Zheng C, et al: Spectrum, and clinical and functional implica-    266. Mischler M, Fleming GM, Shanley TP, et al: Epstein-Barr virus-induced hemophago-
                  tions of UNC13D mutations in familial haemophagocytic lymphohistiocytosis. J Med   cytic lymphohistiocytosis and X-linked lymphoproliferative disease: A mimicker of
                  Genet 45:134–141, 2008.                                sepsis in the pediatric intensive care unit. Pediatrics 119:e1212–e1218, 2007.
                 238. Horne A, Trottestam H, Arico M, et al: Frequency and spectrum of central nervous     267. Migliorati R, Castaldo A, Russo S, et al: Treatment of EBV-induced lymphoproliferative
                  system involvement in 193 children with haemophagocytic lymphohistiocytosis. Br J   disorder with epipodophyllotoxin VP16–213. Acta Paediatr 83:1322–1325, 1994.
                  Haematol 140:327–335, 2008.                           268. Marsh RA, Rao K, Satwani P, et al: Allogeneic hematopoietic cell transplantation for
                 239. Henter JI, Horne A, Arico M, et al: HLH-2004: Diagnostic and therapeutic guidelines   XIAP deficiency: An international survey reveals poor outcomes. Blood 121:877–883,
                  for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 48:124–131, 2007.  2013.
                 240. Marcenaro S, Gallo F, Martini S, et al: Analysis of natural killer-cell function in famil-    269. Dotta L, Parolini S, Prandini A, et al: Clinical, laboratory and molecular signs of immu-
                  ial hemophagocytic lymphohistiocytosis (FHL): Defective CD107a surface expression   nodeficiency in patients with partial oculo-cutaneous albinism. Orphanet J Rare Dis
                  heralds Munc13–4 defect and discriminates between genetic subtypes of the disease.   8:168, 2013.
                  Blood 108:2316–2323, 2006.                            270. Nagle DL, Karim MA, Woolf EA, et al: Identification and mutation analysis of the com-
                 241. Mahlaoui N, Ouachee-Chardin M, de Saint Basile G, et al: Immunotherapy of familial   plete gene for Chediak-Higashi syndrome. Nat Genet 14:307–311, 1996.
                  hemophagocytic lymphohistiocytosis with antithymocyte globulins: A single-center     271. Eapen M, DeLaat CA, Baker KS, et al: Hematopoietic cell transplantation for Chediak-Higashi
                  retrospective report of 38 patients. Pediatrics 120:e622–e628, 2007.  syndrome. Bone Marrow Transplant 39:411–415, 2007.
                 242. Marsh RA, Allen CE, McClain KL, et al: Salvage therapy of refractory hemophagocytic     272. Tardieu M, Lacroix C, Neven B, et al: Progressive neurologic dysfunctions 20 years
                  lymphohistiocytosis with alemtuzumab. Pediatr Blood Cancer 60:101–109, 2013.  after allogeneic bone marrow transplantation for Chediak-Higashi syndrome. Blood
                 243. Pachlopnik Schmid J, Ho CH, Chretien F, et al: Neutralization of IFNgamma defeats   106:40–42, 2005.
                  haemophagocytosis in LCMV-infected perforin- and Rab27a-deficient mice. EMBO     273. Menasche G, Pastural E, Feldmann J, et al: Mutations in RAB27A cause Griscelli syn-
                  Mol Med 1:112–124, 2009.                               drome associated with haemophagocytic syndrome. Nat Genet 25:173–176, 2000.
                 244. Ouachee-Chardin M, Elie C, de Saint Basile G, et al: Hematopoietic stem cell transplan-    274. Hamidieh AA, Pourpak Z, Yari K, et al: Hematopoietic stem cell transplantation with a
                  tation in hemophagocytic lymphohistiocytosis: A single-center report of 48 patients.   reduced-intensity conditioning regimen in pediatric patients with Griscelli syndrome
                  Pediatrics 117:e743–50, 2006.                          type 2. Pediatr Transplant 17:487–491, 2013.
                 245. Marsh RA, Vaughn G, Kim MO, et al: Reduced-intensity conditioning significantly     275. Dell’Angelica EC, Shotelersuk V, Aguilar RC, et al: Altered trafficking of lysosomal pro-
                  improves survival of patients with hemophagocytic lymphohistiocytosis undergoing   teins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the
                  allogeneic hematopoietic cell transplantation. Blood 116:5824–5831, 2010.  AP-3 adaptor. Mol Cell 3:11–21, 1999.
                 246. Purtilo DT, Cassel CK, Yang JP, et al: X-linked recessive progressive combined variable     276. Fontana S, Parolini S, Vermi W, et al: Innate immunity defects in Hermansky-Pudlak
                  immunodeficiency (Duncan’s disease). Lancet 1:935–940, 1975.  type 2 syndrome. Blood 107:4857–4864, 2006.
                 247. Coffey AJ, Brooksbank RA, Brandau O, et al: Host response to EBV infection in     277. Jessen B, Bode SF, Ammann S, et al: The risk of hemophagocytic lymphohistiocytosis in
                  X-linked lymphoproliferative disease results from mutations in an SH2-domain encod-  Hermansky-Pudlak syndrome type 2. Blood 121:2943–2951, 2013.
                  ing gene. Nat Genet 20:129–135, 1998.                 278. Cullinane AR, Curry JA, Carmona-Rivera C, et al: A BLOC-1 mutation screen reveals
                 248. Sayos J, Wu C, Morra M, et al: The X-linked lymphoproliferative-disease gene product   that  PLDN  is  mutated  in  Hermansky-Pudlak  Syndrome  type  9.  Am J Hum Genet
                  SAP regulates signals induced through the co-receptor SLAM. Nature 395:462–469, 1998.  88:778–787, 2011.
                 249. Calpe S, Wang N, Romero X, et al: The SLAM and SAP gene families control innate and     279. Badolato R, Prandini A, Caracciolo S, et al: Exome sequencing reveals a pallidin
                  adaptive immune responses. Adv Immunol 97:177–250, 2008.  mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome.  Blood
                 250. Parolini S, Bottino C, Falco M, et al: X-linked lymphoproliferative disease. 2B4 mol-  119:3185–3187, 2012.
                  ecules displaying inhibitory rather than activating function are responsible for the     280. Kawai T, Akira S: Toll-like receptors and their crosstalk with other innate receptors in
                  inability of natural killer cells to kill Epstein-Barr virus-infected cells.  J Exp Med   infection and immunity. Immunity 34:637–650, 2011.
                  192:337–346, 2000.                                    281. Zhang SY, Jouanguy E, Ugolini S, et al: TLR3 deficiency in patients with herpes simplex
                 251. Bottino  C,  Falco  M,  Parolini  S,  et  al:  NTB-A  [correction  of  GNTB-A],  a novel   encephalitis. Science 317:1522–1527, 2007.
                  SH2D1A-associated surface molecule contributing to the inability of natural killer cells     282. Guo Y, Audry M, Ciancanelli M, et al: Herpes simplex virus encephalitis in a patient
                  to kill Epstein-Barr virus-infected B cells in X-linked lymphoproliferative disease. J Exp   with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity.
                  Med 194:235–246, 2001.                                 J Exp Med 208:2083–2098, 2011.
                 252. Dupre L, Andolfi G, Tangye SG, et al: SAP controls the cytolytic activity of CD8+ T cells     283. Casrouge  A,  Zhang  SY,  Eidenschenk  C,  et  al:  Herpes  simplex  virus  encephalitis  in
                  against EBV-infected cells. Blood 105:4383–4389, 2005.  human UNC-93B deficiency. Science 314:308–312, 2006.
                 253. Qi H, Cannons JL, Klauschen F, et al: SAP-controlled T-B cell interactions underlie     284. Perez de Diego R, Sancho-Shimizu V, Lorenzo L, et al: Human TRAF3 adaptor mol-
                  germinal centre formation. Nature 455:764–769, 2008.   ecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to
                 254. Pasquier B, Yin L, Fondaneche MC, et al: Defective NKT cell development in mice   herpes simplex encephalitis. Immunity 33:400–411, 2010.
                  and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene     285. Sancho-Shimizu V, Perez de Diego R, Lorenzo L, et al: Herpes simplex encephalitis
                  product. J Exp Med 201:695–701, 2005.                  in children with autosomal recessive and dominant TRIF  deficiency.  J  Clin  Invest
                 255. Rigaud S, Fondaneche MC, Lambert N, et al: XIAP deficiency in humans causes an   121:4889–4902, 2011.
                  X-linked lymphoproliferative syndrome. Nature 444:110–114, 2006.    286. Herman M, Ciancanelli M, Ou YH, et al: Heterozygous TBK1 mutations impair TLR3
                 256. Sumegi J, Huang D, Lanyi A, et al: Correlation of mutations of the SH2D1A gene and   immunity and underlie herpes simplex encephalitis of childhood. J Exp Med 209:1567–
                  epstein-barr virus infection with clinical phenotype and outcome in X-linked lymph-  1582, 2012.
                  oproliferative disease. Blood 96:3118–3125, 2000.     287. Lafaille FG, Pessach IM, Zhang SY, et al: Impaired intrinsic immunity to HSV-1 in
                 257. Tabata Y, Villanueva J, Lee SM, et al: Rapid detection of intracellular SH2D1A protein   human iPSC-derived TLR3-deficient CNS cells. Nature 491:769–773, 2012.
                  in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and     288. Dupuis S, Jouanguy E, Al-Hajjar S, et al: Impaired response to interferon-alpha/beta
                  their family members. Blood 105:3066–3071, 2005.       and lethal viral disease in human STAT1 deficiency. Nat Genet 33:388–391, 2003.
                 258. Pachlopnik Schmid J, Canioni D, Moshous D, et al: Clinical similarities and differences     289. Hambleton S, Goodbourn S, Young DF, et al: STAT2 deficiency and susceptibility to
                  of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency)   viral illness in humans. Proc Natl Acad Sci U S A 110:3053–3058, 2013.
                  versus type 2 (XLP-2/XIAP deficiency). Blood 117:1522–1529, 2011.    290. Ramoz N, Rueda LA, Bouadjar B, et al: Mutations in two adjacent novel genes are asso-
                 259. Speckmann C, Lehmberg K, Albert MH, et al: X-linked inhibitor of apoptosis (XIAP)   ciated with epidermodysplasia verruciformis. Nat Genet 32:579–581, 2002.
                  deficiency: The spectrum of presenting manifestations beyond hemophagocytic lym-    291. Picard C, Puel A, Bonnet M, et al: Pyogenic bacterial infections in humans with IRAK-4
                  phohistiocytosis. Clin Immunol 149:133–141, 2013.      deficiency. Science 299:2076–2079, 2003.
                 260. Speckmann C, Ehl S: XIAP deficiency is a mendelian cause of late-onset IBD.  Gut     292. von Bernuth H, Picard C, Jin Z, et al: Pyogenic bacterial infections in humans with
                  63:1031–1032, 2014.                                    MyD88 deficiency. Science 321:691–696, 2008.








          Kaushansky_chapter 80_p1211-1238.indd   1236                                                                  9/18/15   10:02 AM
   1256   1257   1258   1259   1260   1261   1262   1263   1264   1265   1266