Page 526 - Clinical Immunology_ Principles and Practice ( PDFDrive )
P. 526

506          ParT fOur  Immunological Deficiencies


         8.  Somech R, Simon AJ, Lev A, et al. Reduced central tolerance in Omenn   27.  Dobbs K, Dominguez Conde C, Zhang SY, et al. Inherited DOCK2
           syndrome leads to immature self-reactive oligoclonal T cells. J Allergy   Deficiency in Patients with Early-Onset Invasive Infections. N Engl J Med
           Clin Immunol 2009;124(4):793–800.                      [Case Reports Research Support, N.I.H., Extramural Research Support,
         9.  Villa A, Notarangelo LD, Roifman CM. Omenn syndrome: inflammation   Non-U.S. Gov’t]. 2015;372(25):2409–22.
           in leaky severe combined immunodeficiency. J Allergy Clin Immunol   28.  Stepensky P, Keller B, Buchta M, et al. Deficiency of caspase recruitment
           [Review]. 2008;122(6):1082–6.                          domain family, member 11 (CARD11), causes profound combined
        10.  Poliani PL, Facchetti F, Ravanini M, et al. Early defects in human T-cell   immunodeficiency in human subjects. J Allergy Clin Immunol [Case
           development severely affect distribution and maturation of thymic   Reports Research Support, Non-U.S. Gov’t]. 2013;131(2):477–85.e1.
           stromal cells: possible implications for the pathophysiology of Omenn   29.  McKinnon ML, Rozmus J, Fung SY, et al. Combined immunodeficiency
           syndrome. Blood [Research Support, N.I.H., Extramural Research   associated with homozygous MALT1 mutations. J Allergy Clin Immunol
           Support, Non-U.S. Gov’t]. 2009;114(1):105–8.           [Case Reports Clinical Trial Letter Research Support, Non-U.S. Gov’t].
        11.  Nahum A, Reid B, Grunebaum E, et al. Matched unrelated bone marrow   2014;133(5):1458–62, 62.e1–7.
           transplant for Omenn syndrome. Immunol Res [Research Support,   30.  Chen R, Giliani S, Lanzi G, et al. Whole-exome sequencing identifies
           Non-U.S. Gov’t]. 2009;44(1-3):25–34.                   tetratricopeptide repeat domain 7A (TTC7A) mutations for combined
        12.  Sharfe N, Shahar M, Roifman CM. An interleukin-2 receptor gamma   immunodeficiency with intestinal atresias. J Allergy Clin Immunol
           chain mutation with normal thymus morphology. J Clin Invest [Case   [Research Support, N.I.H., Extramural Research Support, Non-U.S.
           Reports Research Support, Non-U.S. Gov’t]. 1997;100(12):3036–43.  Gov’t]. 2013;132(3):656–64.e17.
        13.  Marcus N, Takada H, Law J, et al. Hematopoietic stem cell transplantation   31.  Ngan B, Merico D, Marcus N, et al. Mutations in tetratricopeptide repeat
           for CD3delta deficiency. J Allergy Clin Immunol [Multicenter Study   domain 7A (TTC7A) are associated with combined immunodeficiency
           Research Support, N.I.H., Extramural mResearch Support, Non-U.S.   with dendriform lung ossification but no intestinal atresia. Lympho Sign
           Gov’t]. 2011;128(5):1050–7.                            J 2014;01(01):10–26.
        14.  Pessach IM, Notarangelo LD. Gene therapy for primary   32.  Avitzur Y, Guo C, Mastropaolo LA, et al. Mutations in tetratricopeptide
           immunodeficiencies: looking ahead, toward gene correction. J Allergy   repeat domain 7A result in a severe form of very early onset
           Clin Immunol [Research Support, N.I.H., Extramural Research Support,   inflammatory bowel disease. Gastroenterology [Research Support, N.I.H.,
           Non-U.S. Gov’t Review]. 2011;127(6):1344–50.           Extramural Research Support, Non-U.S. Gov’t]. 2014;146(4):1028–39.
        15.  van der Burg M, van Dongen JJM, van Gent DC. DNA-PKcs deficiency in   33.  Lacruz RS, Feske S. Diseases caused by mutations in ORAI1 and STIM1.
           human: long predicted, finally found. Curr Opin Allergy Clin Immunol   Ann N Y Acad Sci [Research Support, N.I.H., Extramural Review].
           2009;9(6):503–9.                                       2015;1356:45–79.
        16.  Riballo E, Critchlow SE, Teo SH, et al. Identification of a defect in DNA   34.  Byun M, Abhyankar A, Lelarge V, et al. Whole-exome sequencing-based
           ligase IV in a radiosensitive leukaemia patient. Curr Biol [Comparative   discovery of STIM1 deficiency in a child with fatal classic Kaposi
           Study Research Support, Non-U.S. Gov’t]. 1999;9(13):699–702.  sarcoma. J Exp Med [Case Reports Research Support, N.I.H., Extramural
        17.  Lagresle-Peyrou C, Six EM, Picard C, et al. Human adenylate kinase 2   Research Support, Non-U.S. Gov’t]. 2010;207(11):2307–12.
           deficiency causes a profound hematopoietic defect associated with   35.  Gambineri E, Perroni L, Passerini L, et al. Clinical and molecular
           sensorineural deafness. Nat Genet [Research Support, N.I.H., Intramural   profile of a new series of patients with immune dysregulation,
           Research Support, Non-U.S. Gov’t]. 2009;41(1):106–11.  polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent
        18.  Pannicke U, Honig M, Hess I, et al. Reticular dysgenesis (aleukocytosis) is   correlation between forkhead box protein 3 expression and disease
           caused by mutations in the gene encoding mitochondrial adenylate kinase   severity. J Allergy Clin Immunol [Multicenter Study Research Support,
           2. Nat Genet [Research Support, Non-U.S. Gov’t]. 2009;41(1):101–5.  Non-U.S. Gov’t]. 2008;122(6):1105–12.e1.
        19.  Roifman CM, Zhang J, Atkinson A, et al. Adenosine deaminase deficiency   36.  Glocker EO, Kotlarz D, Boztug K, et al. Inflammatory bowel disease and
           can present with features of Omenn syndrome. J Allergy Clin Immunol   mutations affecting the interleukin-10 receptor. N Engl J Med [Case
           [Case Reports Letter Research Support, Non-U.S. Gov’t]. 2008;121(4):   Reports Research Support, N.I.H., Intramural Research Support,
           1056–8.                                                Non-U.S. Gov’t]. 2009;361(21):2033–45.
        20.  Somech R, Lai YH, Grunebaum E, et al. Polyethylene glycol-modified   37.  Oeckinghaus A, Hayden MS, Ghosh S. Crosstalk in NF-kappaB signaling
           adenosine deaminase improved lung disease but not liver disease in   pathways. Nat Immunol [Review]. 2011;12(8):695–708.
           partial adenosine deaminase deficiency. J Allergy Clin Immunol    38.  Pannicke U, Baumann B, Fuchs S, et al. Deficiency of innate and acquired
           [Case Reports Letter Research Support, Non-U.S. Gov’t].   immunity caused by an IKBKB mutation. N Engl J Med [Case Reports
           2009;124(4):848–50.                                    Research Support, Non-U.S. Gov’t]. 2013;369(26):2504–14.
        21.  Husain M, Grunebaum E, Naqvi A, et al. Burkitt’s lymphoma in a patient   39.  Zhang Q, Davis JC, Lamborn IT, et al. Combined immunodeficiency
           with adenosine deaminase deficiency-severe combined immunodeficiency   associated with DOCK8 mutations. N Engl J Med [Research Support,
           treated with polyethylene glycol-adenosine deaminase. J Pediatr [Case   N.I.H., Intramural Research Support, Non-U.S. Go ‘t].
           Reports Research Support, Non-U.S. Gov’t]. 2007;151(1):93–5.  2009;361(21):2046–55.
        22.  Gaspar HB, Aiuti A, Porta F, et al. How I treat ADA deficiency. Blood   40.  Crequer A, Troeger A, Patin E, et al. Human RHOH deficiency causes T
           [Research Support, N.I.H., Intramural Review]. 2009;114(17):3524–32.  cell defects and susceptibility to EV-HPV infections. J Clin Invest
        23.  Aiuti A, Cattaneo F, Galimberti S, et al. Gene therapy for   [Research Support, N.I.H., Extramural Research Support, Non-U.S.
           immunodeficiency due to adenosine deaminase deficiency. N Engl J Med   Gov’t]. 2012;122(9):3239–47.
           [Clinical Trial, Phase I Clinical Trial, Phase II Multicenter Study Research   41.  Li FY, Chaigne-Delalande B, Kanellopoulou C, et al. Second messenger
           Support, Non-U.S. Gov’t]. 2009;360(5):447–58.          role for Mg2+ revealed by human T-cell immunodeficiency. Nature
        24.  Fischer A, Picard C, Chemin K, et al. ZAP70: a master regulator of   [Research Support, N.I.H., Intramural]. 2011;475(7357):471–6.
           adaptive immunity. Semin Immunopathol [Research Support, Non-U.S.   42.  Martin E, Palmic N, Sanquer S, et al. CTP synthase 1 deficiency in
           Gov’t Review]. 2010;32(2):107–16.                      humans reveals its central role in lymphocyte proliferation. Nature
        25.  Chan AY, Punwani D, Kadlecek TA, et al. A novel human autoimmune   [Research Support, Non-U.S. Gov’t]. 2014;510(7504):288–92.
           syndrome caused by combined hypomorphic and activating mutations in   43.  Huck K, Feyen O, Niehues T, et al. Girls homozygous for an IL-2-
           ZAP-70. J Exp Med [Research Support, N.I.H., Extramural]. 2016;213(2):   inducible T cell kinase mutation that leads to protein deficiency develop
           155–65.                                                fatal EBV-associated lymphoproliferation. J Clin Invest [Case Reports
        26.  Newell A, Dadi H, Goldberg R, et al. Diffuse large B-cell lymphoma as   Research Support, Non-U.S. Gov’t]. 2009;119(5):1350–8.
           presenting feature of Zap-70 deficiency. J Allergy Clin Immunol [Case   44.  Pachlopnik Schmid J, Canioni D, Moshous D, et al. Clinical similarities
           Reports Letter Research Support, Non-U.S. Gov’t]. 2011;127(2):517–20.  and differences of patients with X-linked lymphoproliferative syndrome
   521   522   523   524   525   526   527   528   529   530   531