Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome.

Keywords

Locus (genetics), Genetics, Genetic linkage, Autoimmunity, Wiskott–Aldrich syndrome

References

• The effect of cyclosporin A, FK506, and rapamycin on the murine chronic graft‐versus‐host response—an in vivo model of Th2‐like activityJukka Kohonen — 1995
• A multiinstitutional survey of the Wiskott-Aldrich syndrome.Volker Hilt — 1994
• A comprehensive genetic map of the human genome based on 5,264 microsatellitesColette Dib, Sabine Fauré, Cécile Fizames — 1996
• An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy.Berkley R. Powell, Neil R.M. Buist, Peter Stenzel — 1982
• Sleep studies and supportive ventilatory treatment in patients with congenital muscle disorders.Y. Khan, J Z Heckmatt, Victor Dubowitz — 1996
• Extremely high serum level of IgE during immunosuppressive therapy: paradoxical effect of cyclosporine A and tacrolimus.Nobuaki Kawamura, Hirofumi Furuta, Atsushi Tame — 1997
• Strategies for multilocus linkage analysis in humans.G.M. Lathrop, J.-M. Lalouel, Cécile Julier — 1984
• Positional cloning of the APECED geneKentaro Nagamine, Pärt Peterson, Hamish S. Scott — 1997
• The abnormal gene in X-linked lymphoproliferative syndrome.John L. Sullivan — 1999
• X-linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea.Jane Peake, Robert McCrossin, Geoff Byrne — 1996
• Sustained decrease of serum total IgE in cardiac transplant recipients.A.W. van Toorenenbergen, Aggie H.M.M. Balk, A. M. Vermeulen — 1996
• Potentiation of in vitro synthesis of human IgE by cyclosporin A (CsA)D Wheeler, A. Robins, David I. Pritchard — 1995
• An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domainsJohanna Aaltonen, Petra Björses, Jaakko Perheentupa — 1997
• Isolation of a novel gene mutated in Wiskott-Aldrich syndrome.Jonathan M.J. Derry, Hans D. Ochs, Uta Francke — 1994
• WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.Jonathan M.J. Derry, Joshua Kerns, Kenneth I. Weinberg — 1995
• Neonatal diabetes mellitus associated with severe diarrhea, hyperimmunoglobulin E syndrome, and absence of islets of Langerhans.Jennifer Roberts, J. Searle — 1995
• Recent advances in the genetics of primary immunodeficiency syndromes.Shyh‐Dar Shyur, Harry R. Hill — 1996

Cited by

• Autoimmune enteropathy: A reviewPierre Russo, Fernando Álvarez — 2002
• Clinical Cases in Primary Immunodeficiency DiseasesAsghar Aghamohammadi, Nima Rezaei — 2012
• The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3Craig L. Bennett, Jacinda R. Christie, Fred Ramsdell — 2001
• X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfyRobert S. Wildin, Fred Ramsdell, Jane Peake — 2001
• Are mouse models of human mycobacterial diseases relevant? Genetics says: ‘yes!’Alexander Apt — 2011
• Immunodeficiencies with autoimmune consequences.Luigi D. Notarangelo, Eleonora Gambineri, Raffaele Badolato — 2006
• Regulatory T cells in primary immunodeficiency diseasesTroy R. Torgerson, Hans D. Ochs — 2007
• JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome.Talal A. Chatila, Frank Blaeser, Nga Ho — 2000
• Fetal-onset IPEX: report of two families and review of literature.Mariana Moraes Xavier-da-Silva, Carlos Alberto Moreira‐Filho, Edson Suzuki — 2015
• Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome and the scurfy mutant mouseHans D. Ochs, Roli Khattri, Craig L. Bennett — 2002
• An undifferentiated pediatricianThaddeus E. Kelly — 2009
• Dermatologic and immunologic findings in the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.David S. Nieves, Richard P. Phipps, Stephen J. Pollock — 2004
• Escape from tolerance in the human X-linked autoimmunity-allergic disregulation syndrome and the Scurfy mouse.Dhavalkumar D. Patel — 2001
• Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A Paradigm of Immunodeficiency with AutoimmunityFederica Barzaghi, Laura Passerini, Rosa Bacchetta — 2012
• IPEX as a Result of Mutations in FOXP3Hans J. J. van der Vliet, Edward E. S. Nieuwenhuis — 2007
• FOXP3: Genetic and Epigenetic Implications for AutoimmunityHiroto Katoh, Pan Zheng, Yang Liu — 2013
• Cutaneous manifestations of immune dysregulation, polyendocrinopathy, enteropathy, X‐linked (IPEX) syndromeM. Halabi‐Tawil, Frank M. Ruemmele, Sylvie Fraïtag — 2009
• Use of Sirolimus in IPEX and IPEX-Like ChildrenPierre L Yong, Pierre Russo, Kathleen E. Sullivan — 2008
• Immune deficiency and autoimmunity.Amos Etzioni — 2003
• Medium-term survival without haematopoietic stem cell transplantation in a case of IPEX: insights into nutritional and immunosuppressive therapyAndrea Taddio, Elena Faleschini, Erica Valencic — 2007

Related papers

• Abstract #1001822: Severe Hypocalcemia as the Initial Presentation of Common Variable Immunodeficiency (CVID) EnteropathyVanessa Williams, Noor Wazzan, Anis Rehman — 2021
• CVID Enteropathy- A Rare Cause of Chronic Diarrhea in a ChildJ. Patel, Arvind Kumar, Anantakumar Agasti — 2012
• M249 ENTEROPATHY-DIAGNOSED COMMON VARIABLE IMMUNODEFICIENCYMoreno García M, Ismael Carrillo‐Martin, Jacqueline D. Squire — 2020
• The Effect of Immunoglobulin Levels on CVID Enteropathy Pathogenesis and Clinical SeverityMeng Chen, Edith Schussler, Mabel Ko — 2016
• VEDOLIZUMAB AS TREATMENT FOR COMMON VARIABLE IMMUNE DEFICIENCY (CVID): A CASE SERIES AND BRIEF REVIEW OF THE LITERATURESagar P. Patel, Cameron Wilhoit, Kelli W. Williams — 2022
• M181 NLRP12-RELATED DISEASE AND COMMON VARIABLE IMMUNODEFICIENCY, ENTEROPATHY, AND IGA VASCULITISD. Lee, James R. Baker — 2021
• 18. Chronic norovirus infection in common variable immune deficiency (CVID) – A case report and literature reviewRachael Heath Jeffery, M. Fadia, Adrienne Morey — 2020
• Prenatal molecular diagnosis of Wiskott–Aldrich syndrome by direct mutation analysisSilvia Giliani, Maurilia Fiorini, Patrizia Mella — 1999
• AB1468 ENTEROPATHY IN DUTCH COMMON VARIABLE IMMUNODEFICIENCY COHORTNorsham Juliana, Mirjam Severs, Jacques van Montfrans — 2023
• Common Variable Immunodeficiency.Allison Remiker, Kristina Bolling, James Verbsky — 2023