Page 1259 - Williams Hematology ( PDFDrive )
P. 1259

1234           Part IX:  Lymphocytes and Plasma Cells                                                                                                                          Chapter 80:  Immunodeficiency Diseases            1235




                 105. Matangkasombut P, Pichavant M, Saez DE, et al: Lack of iNKT cells in patients with     137. Chaigne-Delalande B, Li FY, O’Connor GM, et al: Mg2+ regulates cytotoxic functions
                  combined immune deficiency due to hypomorphic RAG mutations. Blood 111:271–274,   of NK and CD8 T cells in chronic EBV infection through NKG2D. Science 341:186–191,
                  2008.                                                  2013.
                 106. Markert ML, Alexieff MJ, Li J, et al: Complete DiGeorge syndrome: Development     138. Zhang Q, Davis JC, Lamborn IT, et al: Combined immunodeficiency associated with
                  of rash, lymphadenopathy, and oligoclonal T cells in 5 cases. J Allergy Clin Immunol   DOCK8 mutations. N Engl J Med 361:2046–2055, 2009.
                  113:734–741, 2004.                                    139. Engelhardt KR, McGhee S, Winkler S, et al: Large deletions and point mutations involving
                 107. Gennery AR, Slatter MA, Rice J, et al: Mutations in CHD7 in patients with CHARGE   the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE
                  syndrome cause T-B + natural killer cell + severe combined immune deficiency and   syndrome. J Allergy Clin Immunol 124:1289–1302 e4, 2009.
                  may cause Omenn-like syndrome. Clin Exp Immunol 153:75–80, 2008.    140. Randall KL, Chan SS, Ma CS, et al: DOCK8 deficiency impairs CD8 T cell survival and
                 108. Torgerson TR, Gambineri E, Ochs HD: Immune dysregulation, polyendocrinopa-  function in humans and mice. J Exp Med 208:2305–2320, 2011.
                  thy, enteropathy, and X-linked inheritance, in Primary Immunodeficiency Diseases, A     141. Mizesko  MC,  Banerjee  PP,  Monaco-Shawver  L,  et  al:  Defective  actin  accumulation
                  Molecular and Genetic Approach, 3rd ed, edited by Ochs HD, Smith CIE, Puck JM,   impairs human natural killer cell function in patients with dedicator of cytokinesis 8
                  pp 395–413. Oxford University Press, New York, 2014.   deficiency. J Allergy Clin Immunol 131:840–848, 2013.
                 109. Fraitag S, Bodemer C: Neonatal erythroderma. Curr Opin Pediatr 22:438–444, 2010.    142. Jabara HH, McDonald DR, Janssen E, et al: DOCK8 functions as an adaptor that links
                 110. Hauck F, Randriamampita C, Martin E, et al: Primary T-cell immunodeficiency with   TLR-MyD88 signaling to B cell activation. Nat Immunol 13:612–620, 2012.
                  immunodysregulation caused by autosomal recessive LCK deficiency.  J Allergy  Clin     143. Pai SY, de Boer H, Massaad MJ, et al: Flow cytometry diagnosis of dedicator of cytoki-
                  Immunol 130:1144–1152 e11, 2012.                       nesis 8 (DOCK8) deficiency. J Allergy Clin Immunol 134:221–223 e7, 2014.
                 111. Chan AC, Kadlecek TA, Elder ME, et al: ZAP-70 deficiency in an autosomal recessive     144. Barlogis V, Galambrun C, Chambost H, et al: Successful allogeneic hematopoietic stem
                  form of severe combined immunodeficiency. Science 264:1599–1601, 1994.  cell transplantation for DOCK8 deficiency. J Allergy Clin Immunol 128:420–422 e2,
                 112. Elder ME, Lin D, Clever J, et al: Human severe combined immunodeficiency due to a   2011.
                  defect in ZAP-70, a T cell tyrosine kinase. Science 264:1596–1599, 1994.    145. Keles S, Jabara HH, Reisli I, et al: Plasmacytoid dendritic cell depletion in DOCK8
                 113. Crequer A, Troeger A, Patin E, et al: Human RHOH deficiency causes T cell defects and   deficiency: Rescue of severe herpetic infections with IFN-alpha 2b therapy. J Allergy
                  susceptibility to EV-HPV infections. J Clin Invest 122:3239–3247, 2012.  Clin Immunol 133:1753–1755 e3, 2014.
                 114. Nehme NT, Pachlopnik Schmid J, Debeurme F, et al: MST1 mutations in autosomal     146. Samuels ME, Majewski J, Alirezaie N, et al: Exome sequencing identifies mutations in
                  recessive primary immunodeficiency characterized by defective naive T-cell survival.   the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.
                  Blood 119:3458–3468, 2012.                              J Med Genet 50:324–329, 2013.
                 115. Abdollahpour H, Appaswamy G, Kotlarz D, et al: The phenotype of human STK4 defi-    147. Chen R, Giliani S, Lanzi G, et al: Whole-exome sequencing identifies tetratricopeptide
                  ciency. Blood 119:3450–3457, 2012.                     repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal
                 116. de la Calle-Martin O, Hernandez M, Ordi J, et al: Familial CD8 deficiency due to a   atresias. J Allergy Clin Immunol 132:656–664 e17, 2013.
                  mutation in the CD8 alpha gene. J Clin Invest 108:117–123, 2001.    148. Bigorgne AE, Farin HF, Lemoine R, et al: TTC7A mutations disrupt intestinal epithelial
                 117. Mancebo E, Moreno-Pelayo MA, Mencia A, et al: Gly111Ser mutation in CD8A gene   apicobasal polarity. J Clin Invest 124:328–337, 2014.
                  causing CD8 immunodeficiency is found in Spanish Gypsies. Mol Immunol 45:479–484,     149. Avitzur Y, Guo C, Mastropaolo LA, et al: Mutations in tetratricopeptide repeat domain
                  2008.                                                  7A result in a severe form of very early onset inflammatory bowel disease. Gastroenterology
                 118. Jabara HH, Ohsumi T, Chou J, et al: A homozygous mucosa-associated lymphoid tissue 1   146:1028–1039, 2014.
                  (MALT1) mutation in a family with combined immunodeficiency. J Allergy Clin Immunol     150. Fischer RT, Friend B, Talmon GA, et al: Intestinal transplantation in children with mul-
                  132:151–158, 2013.                                     tiple intestinal atresias and immunodeficiency. Pediatr Transplant 18:190–196, 2014.
                 119. Stepensky P, Keller B, Buchta M, et al: Deficiency of caspase recruitment domain family,     151. Cliffe ST, Bloch DB, Suryani S, et al: Clinical, molecular, and cellular immunologic find-
                  member 11 (CARD11), causes profound combined immunodeficiency in human sub-  ings in patients with SP110-associated veno-occlusive disease with immunodeficiency
                  jects. J Allergy Clin Immunol 131:477–85 e1, 2013.     syndrome. J Allergy Clin Immunol 130:735–742 e6, 2012.
                 120. Greil J, Rausch T, Giese T, et al: Whole-exome sequencing links caspase recruitment     152. Roscioli T, Cliffe ST, Bloch DB, et al: Mutations in the gene encoding the PML nuclear
                  domain 11 (CARD11) inactivation to severe combined immunodeficiency. J Allergy   body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive
                  Clin Immunol 131:1376–1383 e3, 2013.                   disease. Nat Genet 38:620–622, 2006.
                 121. Pannicke U, Baumann B, Fuchs S, et al: Deficiency of innate and acquired immunity     153. Ganaiem H, Eisenstein EM, Tenenbaum A, et al: The role of hematopoietic stem cell
                  caused by an IKBKB mutation. N Engl J Med 369:2504–2514, 2013.  transplantation  in  SP110  associated  veno-occlusive  disease  with  immunodeficiency
                 122. Courtois G, Smahi A, Reichenbach J, et al: A hypermorphic IkappaBalpha mutation is   syndrome. Pediatr Allergy Immunol 24:250–256, 2013.
                  associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immu-    154. Kobrynski LJ, Sullivan KE: Velocardiofacial syndrome, DiGeorge syndrome: The chro-
                  nodeficiency. J Clin Invest 112:1108–1115, 2003.       mosome 22q11.2 deletion syndromes. Lancet 370:1443–1452, 2007.
                 123. Picard C, Casanova JL, Puel A: Infectious diseases in patients with IRAK-4, MyD88,     155. Markert ML, Devlin BH, Alexieff MJ, et al: Review of 54 patients with complete
                  NEMO, or IkappaBalpha deficiency. Clin Microbiol Rev 24:490–497, 2011.  DiGeorge anomaly enrolled in protocols for thymus transplantation: Outcome of 44
                 124. Shiow LR, Roadcap DW, Paris K, et al: The actin regulator coronin 1A is mutant in a   consecutive transplants. Blood 109:4539–4547, 2007.
                  thymic egress-deficient mouse strain and in a patient with severe combined immuno-    156. Lingman Framme J, Borte S, von Dobeln U, et al: Retrospective analysis of TREC based
                  deficiency. Nat Immunol 9:1307–1315, 2008.             newborn screening results and clinical phenotypes in infants with the 22q11 deletion
                 125. Moshous D, Martin E, Carpentier W, et al: Whole-exome sequencing identifies Coronin-1A   syndrome. J Clin Immunol 34:514–519, 2014.
                  deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphopro-    157. Land MH, Garcia-Lloret MI, Borzy MS, et al: Long-term results of bone marrow trans-
                  liferation. J Allergy Clin Immunol 131:1594–1603, 2013.  plantation in complete DiGeorge syndrome. J Allergy Clin Immunol 120:908–915, 2007.
                 126. van Montfrans JM, Hoepelman AI, Otto S, et al: CD27 deficiency is associated with     158. Jongmans MC, Admiraal RJ, van der Donk KP, et al: CHARGE syndrome: The pheno-
                  combined immunodeficiency and persistent symptomatic EBV viremia. J Allergy Clin   typic spectrum of mutations in the CHD7 gene. J Med Genet 43:306–314, 2006.
                  Immunol 129:787–793 e6, 2012.                         159. Pignata C, Fiore M, Guzzetta V, et al: Congenital Alopecia and nail dystrophy asso-
                 127. Martin E, Palmic N, Sanquer S, et al: CTP synthase 1 deficiency in humans reveals its   ciated with severe functional T-cell immunodeficiency in two sibs. Am J Med Genet
                  central role in lymphocyte proliferation. Nature 510:288–292, 2014.  65:167–170, 1996.
                 128. de la Salle H, Zimmer J, Fricker D, et al: HLA class I deficiencies due to mutations in     160. Markert ML, Marques JG, Neven B, et al: First use of thymus transplantation therapy
                  subunit 1 of the peptide transporter TAP1. J Clin Invest 103:R9–R13, 1999.  for FOXN1 deficiency (nude/SCID): A report of 2 cases. Blood 117:688–696, 2011.
                 129. de la Salle H, Hanau D, Fricker D, et al: Homozygous human TAP peptide transporter     161. Bennett CL, Christie J, Ramsdell F, et al: The immune dysregulation, polyendocrinop-
                  mutation in HLA class I deficiency. Science 265:237–241, 1994.  athy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat
                 130. Yabe T, Kawamura S, Sato M, et al: A subject with a novel type I bare lymphocyte syn-  Genet 27:20–21, 2001.
                  drome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombina-    162.  Torgerson TR, Genin A, Chen C, et al: FOXP3 inhibits activation-induced NFAT2 expres-
                  tion. Blood 100:1496–1498, 2002.                       sion in T cells thereby limiting effector cytokine expression. J Immunol 183:907–915, 2009.
                 131. Gadola SD, Moins-Teisserenc HT, Trowsdale J, et al: TAP deficiency syndrome. Clin     163. Burroughs LM, Torgerson TR, Storb R, et al: Stable hematopoietic cell engraftment
                  Exp Immunol 121:173–178, 2000.                         after low-intensity nonmyeloablative conditioning in patients with immune dysregu-
                 132. Zimmer J, Andres E, Donato L, et al: Clinical and immunological aspects of HLA class   lation, polyendocrinopathy, enteropathy, X-linked syndrome. J Allergy Clin Immunol
                  I deficiency. QJM 98:719–727, 2005.                    126:1000–1005, 2010.
                 133. Picard C, Fischer A: Hematopoietic stem cell transplantation and other management     164. Aoki CA, Roifman CM, Lian ZX, et al: IL-2 receptor alpha deficiency and features of
                  strategies for MHC class II deficiency. Immunol Allergy Clin North Am 30:173–178,   primary biliary cirrhosis. J Autoimmun 27:50–53, 2006.
                  2010.                                                 165. Caudy AA, Reddy ST, Chatila T, et al: CD25 deficiency causes an immune dysregu-
                 134. Feske S, Gwack Y, Prakriya M, et al: A mutation in Orai1 causes immune deficiency by   lation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10
                  abrogating CRAC channel function. Nature 441:179–185, 2006.  expression from CD4 lymphocytes. J Allergy Clin Immunol 119:482–487, 2007.
                 135. Picard C, McCarl CA, Papolos A, et al: STIM1 mutation associated with a syndrome of     166. Kofoed EM, Hwa V, Little B, et al: Growth hormone insensitivity associated with a
                  immunodeficiency and autoimmunity. N Engl J Med 360:1971–1980, 2009.  STAT5b mutation. N Engl J Med 349:1139–1147, 2003.
                 136. Li FY, Chaigne-Delalande B, Kanellopoulou C, et al: Second messenger role for Mg2+     167. Nadeau K, Hwa V, Rosenfeld RG: STAT5b deficiency: An unsuspected cause of growth
                  revealed by human T-cell immunodeficiency. Nature 475:471–476, 2011.  failure, immunodeficiency, and severe pulmonary disease. J Pediatr 158:701–708, 2011.







          Kaushansky_chapter 80_p1211-1238.indd   1234                                                                  9/18/15   10:02 AM
   1254   1255   1256   1257   1258   1259   1260   1261   1262   1263   1264