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Critical Reviews in Clinical Laboratory Sciences Volume 40, 2003 - Issue 6
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Research Article

Syndromic Immunodeficiencies: Genetic Syndromes Associated with Immune Abnormalities

Jeffrey E. Ming Department of Pediatrics, Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
,
E. Richard Stiehm UCLA School of Medicine; Division of Immunology/Allergy/Rheumatology, Department of Pediatrics, Mattel Children's Hospital at UCLA, Los Angeles, California, USA
&
John M. Graham, Jr. Medical Genetics Birth Defects Center, Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, SHARE's Child Disability Center, UCLA University Affiliated Program, International Skeletal Dysplasia Registry, UCLA School of Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA
Pages 587-642 | Published online: 29 Sep 2008

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Asghar Aghamohammadi, Hassan Abolhassani, AmirHossein Latif, Firouzeh Tabassomi, Tahaamin Shokuhfar, Babak Torabi Sagvand, Shervin Shahinpour, Babak Mirminachi, Nima Parvaneh, Masoud Movahedi, Mohammad Gharagozlou, Roya Sherkat, Reza Amin, Soheila Aleyasin, Reza Faridhosseini, Farahzad Jabbari-Azad, Taher Cheraghi, Mohamad Hosein Eslamian, Abbas Khalili, Najmoddin Kalantari, Alireza Shafiei, Abbas Dabbaghzade, Alireza Khayatzadeh, Mohsen Ebrahimi, Davood Razavinejad, Saeid Bazregari, Mehran Ebrahimi, Javad Ghaffari, Mohammad Hassan Bemanian, Nasrin Behniafard, Sara Kashef, Iraj Mohammadzadeh, Lennart Hammarström & Nima Rezaei. (2014) Long-term evaluation of a historical cohort of Iranian common variable immunodeficiency patients. Expert Review of Clinical Immunology 10:10, pages 1405-1417.
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R. Hady-Cohen, P. Dragoumi, D. Barca, B. Plecko, T. Lerman-Sagie & D. Zafeiriou. (2021) Safety and recommendations for vaccinations of children with inborn errors of metabolism. European Journal of Paediatric Neurology 35, pages 93-99.
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N. M. Yarema, O. R. Boyarchuk, I. B. Chornomydz & Ya. V. Panasiuk. (2021) Numerical and Structural Chromosomal Abnormalities Associated with Immunodeficiency. Cytology and Genetics 55:4, pages 340-349.
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Jim O. Roberts, Hannah F. E. Jones & Wendi D. Roe. (2021) The effects of Toxoplasma gondii on New Zealand wildlife: implications for conservation and management. Pacific Conservation Biology 27:3, pages 208.
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Jorge Martínez-Cano, Elena Campos-Sánchez & César Cobaleda. (2019) Epigenetic Priming in Immunodeficiencies. Frontiers in Cell and Developmental Biology 7.
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Pim P. Edomskis, Daniël P. V. Lambrichts & Johan F. Lange. 2019. Emergency Surgical Management of Colorectal Cancer. Emergency Surgical Management of Colorectal Cancer 147 161 .
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Jeffrey E. Ming & E. Richard Stiehm. 2017. Primary Immunodeficiency Diseases. Primary Immunodeficiency Diseases 519 551 .
Nima Rezaei, Francisco A. Bonilla, Mikko Seppänen, Esther de Vries, Ahmed Aziz Bousfiha, Jennifer Puck & Jordan Orange. 2017. Primary Immunodeficiency Diseases. Primary Immunodeficiency Diseases 1 81 .
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K. Calvo Campoverde, E. Gean, M. Piquer Gibert, L. Martinez Valdez, A. Dey?-Mart?nez, M. Rojas Volquez, A. Esteve-Sole, M. Juan, A.M. Plaza & L. Alsina. (2016) Humoral deficiency in three paediatric patients with genetic diseases. Allergologia et Immunopathologia 44:3, pages 257-262.
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Howard M. Lederman. 2016. Pediatric Allergy: Principles and Practice. Pediatric Allergy: Principles and Practice 63 70.e1 .
Markus G Seidel, Celia Duerr, Stavroula Woutsas, Anette Schwerin-Nagel, Kambis Sadeghi, Jürgen Neesen, Sabine Uhrig, Elisangela Santos-Valente, Winfried F Pickl, Wolfgang Schwinger, Christian Urban, Kaan Boztug & Elisabeth Förster-Waldl. (2014) A novel immunodeficiency syndrome associated with partial trisomy 19p13. Journal of Medical Genetics 51:4, pages 254-263.
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Susanna Esposito, Filippo Salvini, Francesca Menni, Alessia Scala, Elisabetta Salvatici, Francesca Manzoni, Enrica Riva, Marcello Giovannini & Nicola Principi. (2013) Preliminary data on immunogenicity, safety and tolerability of trivalent inactivated influenza vaccine in children with inborn errors of metabolism at risk of decompensation. Vaccine 31:45, pages 5149-5151.
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Francesca Menni, Gabriella Chiarelli, Caterina Sabatini, Nicola Principi & Susanna Esposito. (2012) Vaccination in children with inborn errors of metabolism. Vaccine 30:50, pages 7161-7164.
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E de Vries. (2012) Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. Clinical and Experimental Immunology 167:1, pages 108-119.
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Ingeborg Y Bart, Corry MR Weemaes, Anke R Schuitema‐Dijkstra, Dominique Smeets & Esther de Vries. (2011) Immunodeficiency in a child with partial trisomy 6p. Acta Paediatrica 100:8.
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Carolina Fern?ndez-San Jos?Andrea Mart?n-Nalda, Teresa Vendrell Bayona & Pere Soler-Palac?n. (2011) HYPOGAMMAGLOBULINEMIA IN A 12-YEAR-OLD PATIENT WITH JACOBSEN SYNDROME. Journal of Paediatrics and Child Health 47:7, pages 485-486.
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Boris Hügle, Hal Hoffman, Lynne M. Bird, Corinna Gebauer, Philipp Suchowerskyj, Ulrich Sack, Jürgen Kohlhase & Volker Schuster. (2010) Hoffman syndrome: New patients, new insights. American Journal of Medical Genetics Part A 155:1, pages 149-153.
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Howard M. Lederman & Erwin W. Gelfand. 2010. Pediatric Allergy: Principles and Practice. Pediatric Allergy: Principles and Practice 81 87 .
Ertan Mayatepek. 2010. Inherited Metabolic Diseases. Inherited Metabolic Diseases 243 248 .
Narlito V. Cruz, Sanaa A. Mahmoud, Harold Chen, Mary Lowery-Nordberg, Kristin Berlin & Sami L. Bahna. (2009) Follow-up study of immune defects in patients with dysmorphic disorders. Annals of Allergy, Asthma & Immunology 102:5, pages 426-431.
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Jeffrey E. Ming & E. Richard Stiehm. (2008) Genetic Syndromic Immunodeficiencies with Antibody Defects. Immunology and Allergy Clinics of North America 28:4, pages 715-736.
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Jeffrey E. Ming & E. Richard Stiehm. 2008. Primary Immunodeficiency Diseases. Primary Immunodeficiency Diseases 291 314 .
Nima Rezaei, Francisco A. Bonilla, Kathleen E. Sullivan, Esther de Vries & Jordan S. Orange. 2008. Primary Immunodeficiency Diseases. Primary Immunodeficiency Diseases 1 38 .
. 2007. Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias. Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias 1274 1320 .
Michael T. Brady. (2006) Immunization Recommendations for Children With Metabolic Disorders: More Data Would Help. Pediatrics 118:2, pages 810-813.
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Nihal Özdemir, Harika Alpay, Abdullah Bereket, Gamze Bereket, Neşe Bıyıklı, Metin Aydoğan, Fulya Çakalağoğlu, Işın Kılıçaslan & İhsan Akpınar. (2006) Membranous nephropathy in Schimke immuno-osseous dysplasia. Pediatric Nephrology 21:6, pages 870-872.
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