Page 353 - Clinical Immunology_ Principles and Practice ( PDFDrive )
P. 353

CHaPtEr 22  Phagocyte Deficiencies              333


           18.  Roos D, Meischl C, de Boer M, et al. Genetic analysis of patients with   33.  Feld JJ, Hussain N, Wright EC, et al. Hepatic involvement and portal
             leukocyte adhesion deficiency: genomic sequencing reveals otherwise   hypertension predict mortality in chronic granulomatous disease.
             undetectable mutations. Exp Hematol 2002;30:252–61.    Gastroenterology 2008;134:1917–26.
           18a.  Moutsopoulos NM, Zerbe CS, Wild T, et al. Interleukin-12 and   34.  Segal BH, DeCarlo ES, Kwon-Chung KJ, et al. Aspergillus nidulans
             interleukin-23 blockade in leukocyte adhesion deficiency type 1. New   infection in chronic granulomatous disease. Medicine (Baltimore)
             Engl J Med 2017;376:1141–6.                            1998;77:345–54.
           19.  Etzioni A, Gershoni-Baruch R, Pollack S, et al. Leukocyte adhesion   35.  Vinh DC, Shea YR, Jones PA, et al. Chronic invasive aspergillosis caused
             deficiency type II: long-term follow-up. J Allergy Clin Immunol   by Aspergillus viridinutans. Emerg Infect Dis 2009;15:1292–4.
             1998;102:323–4.                                      36.  Siddiqui S, Anderson VL, Hilligoss DM, et al. Fulminant mulch
           20.  Alon R, Etzioni A. LAD-III, a novel group of leukocyte integrin activation   pneumonitis: an emergency presentation of chronic granulomatous
             deficiencies. Trends Immunol 2003;24:561–6.            disease. Clin Infect Dis 2007;45:673–81.
           21.  Malinin NL, Zhang L, Choi J, et al. A point mutation in KINDLIN3   37.  Greenberg DE, Shoffner AR, Zelazny AM, et al. Recurrent Granulibacter
             ablates activation of three integrin subfamilies in humans. Nat Med   bethesdensis infections and chronic granulomatous disease. Emerg Infect
             2009;15:313–18.                                        Dis 2010;16:1341–8.
           22.  Svensson L, Howarth K, McDowall A, et al. Leukocyte adhesion   38.  Marciano BE, Rosenzweig SD, Kleiner DE, et al. Gastrointestinal
             deficiency-III is caused by mutations in KINDLIN3 affecting integrin   involvement in chronic granulomatous disease. Pediatrics 2004;114:462–8.
             activation. Nat Med 2009;15:306–12.                  39.  De Ravin SS, Naumann N, Cowen EW, et al. Chronic granulomatous
           23.  Marciano BE, Spalding C, Fitzgerald A, et al. Common severe infections   disease as a risk factor for autoimmune disease. J Allergy Clin Immunol
             in chronic granulomatous disease. Clin Infect Dis 2015;60:1176–83.  2008;122:1097–103.
           24.  Segal AW. How neutrophils kill microbes. Annu Rev Immunol   40.  Güngör T, Teira P, Slatter M, et al. Reduced-intensity conditioning and
             2005;23:197–223.                                       HLA-matched haemopoietic stem-cell transplantation in patients with
           25.  Papayannopoulos V, Zychlinsky A. NETs: a new strategy for using old   chronic granulomatous disease: a prospective multicentre study. Lancet
             weapons. Trends Immunol 2009;30:513–21.                2014;383:436–48.
           26.  Roos D, Kuhns DB, Maddalena A, et al. Hematologically important   41.  Lanza F. Clinical manifestation of myeloperoxidase deficiency. J Mol Med
             mutations: X-linked chronic granulomatous disease (third update). Blood   1998;76:676–81.
             Cells Mol Dis 2010;45:246–65.                        42.  Gombart AF, Koeffler HP. Neutrophil specific granule deficiency and
           27.  Royer-Pokora B, Kunkel LM, Monaco AP, et al. Cloning the gene for an   mutations in the gene encoding transcription factor C/EBP(epsilon).
             inherited human disorder–chronic granulomatous disease—on the basis   Curr Opin Hematol 2002;9:36–42.
             of its chromosomal location. Nature 1986;322:32–8.   43.  Kaplan J, De Domenico I, Ward DM. Chediak–Higashi syndrome. Curr
           28.  Deardorff MA, Gaddipati H, Kaplan P, et al. Complex management of a   Opin Hematol 2008;15:22–9.
             patient with a contiguous Xp11.4 gene deletion involving ornithine   44.  Freeman AF, Holland SM. Clinical manifestations, etiology, and
             transcarbamylase: a role for detailed molecular analysis in complex   pathogenesis of the hyper-IgE syndromes. Pediatr Res 2009;65:32R–37R.
             presentations of classical diseases. Mol Genet Metab 2008;94:498–502.  45.  Milner JD, Sandler NG, Douek DC. Th17 cells, Job’s syndrome and HIV:
           29.  Roos D, Kuhns DB, Maddalena A, et al. Hematologically important   opportunities for bacterial and fungal infections. Curr Opin HIV AIDS
             mutations: the autosomal recessive forms of chronic granulomatous   2010;5:179–83.
             disease (second update). Blood Cells Mol Dis 2010;44:291–9.  46.  Zhang Q, Davis JC, Lamborn IT, et al. Combined immunodeficiency
           30.  Matute JD, Arias AA, Wright NA, et al. A new genetic subgroup of   associated with DOCK8 mutations. N Engl J Med 2009;361:2046–55.
             chronic granulomatous disease with autosomal recessive mutations in   47.  Spinner MA, Sanchez LA, Hsu AP, et al. GATA2 deficiency: a protean
             p40 phox and selective defects in neutrophil NADPH oxidase activity.   disorder of hematopoiesis, lymphatics, and immunity. Blood
             Blood 2009;114:3309–15.                                2014;123:809–21.
           31.  Kuhns DB, Alvord WG, Heller T, et al. Residual NADPH oxidase and   48.  Elloumi HZ, Holland SM. Diagnostic assays for chronic granulomatous
             survival in chronic granulomatous disease. N Engl J Med   disease and other neutrophil disorders. Methods Mol Biol
             2010;363:2600–10.                                      2014;1124:517–35.
           32.  Leiding JW, Freeman AF, Marciano BE, et al. Corticosteroid therapy for
             liver abscess in chronic granulomatous disease. Clin Infect Dis
             2012;54:694–700.
   348   349   350   351   352   353   354   355   356   357   358