Fetal-onset IPEX: report of two families and review of literature.

[1]  J. B. Oliveira,et al.  Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias. , 2014, Human immunology.

[2]  U. Sack,et al.  Differences in FOXP3 and CD127 expression in Treg-like cells in patients with IPEX syndrome. , 2014, Clinical immunology.

[3]  Steven F. Ziegler,et al.  FOXP3 and scurfy: how it all began , 2014, Nature Reviews Immunology.

[4]  Aristides G. Eliopoulos,et al.  The gut microbiota in mouse models of inflammatory bowel disease , 2014, Front. Cell. Infect. Microbiol..

[5]  J. Carlos,et al.  Diagnostic Value of the Skin Lesions in Immune Dysregulation, Polyendocrinopathy, Enteropathy, X‐Linked Syndrome , 2013, Pediatric dermatology.

[6]  V. Désilets,et al.  Investigation and management of non-immune fetal hydrops. , 2013, Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC.

[7]  W. D. de Vos,et al.  Bacterial Diversity in Meconium of Preterm Neonates and Evolution of Their Fecal Microbiota during the First Month of Life , 2013, PloS one.

[8]  N. Atapattu,et al.  IPEX syndrome with membrano-proliferative nephrotic syndrome. , 2013, The Ceylon medical journal.

[9]  E. Cario Microbiota and innate immunity in intestinal inflammation and neoplasia , 2013, Current opinion in gastroenterology.

[10]  C. Benoist,et al.  Treg cells, life history, and diversity. , 2012, Cold Spring Harbor perspectives in biology.

[11]  R. Bacchetta,et al.  Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A Paradigm of Immunodeficiency with Autoimmunity , 2012, Front. Immun..

[12]  T. Torgerson,et al.  The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome , 2012, Journal of Medical Genetics.

[13]  L. Naldini,et al.  Forkhead box protein 3 (FOXP3) mutations lead to increased TH17 cell numbers and regulatory T-cell instability. , 2011, The Journal of allergy and clinical immunology.

[14]  S. Shurtleff,et al.  Therapeutic in vivo selection of thymic-derived natural T regulatory cells following non-myeloablative hematopoietic stem cell transplant for IPEX. , 2011, Clinical immunology.

[15]  Bo Eun Kim,et al.  A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome , 2011, European Journal of Pediatrics.

[16]  H. Kanegane,et al.  Identification of FOXP3-negative regulatory T-like (CD4(+)CD25(+)CD127(low)) cells in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. , 2011, Clinical immunology.

[17]  M. Yamada,et al.  Autoantibodies to villin occur frequently in IPEX, a severe immune dysregulation, syndrome caused by mutation of FOXP3. , 2011, Clinical immunology.

[18]  M. Wang,et al.  Clinical and Molecular Characteristics of Immunodysregulation, Polyendocrinopathy, Enteropathy, X‐Linked Syndrome in China , 2011, Scandinavian journal of immunology.

[19]  T. Torgerson,et al.  Autoimmune hepatitis type 2 in a child with IPEX syndrome. , 2011, Journal of pediatric gastroenterology and nutrition.

[20]  L. Guidi,et al.  Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome , 2011, European journal of immunology.

[21]  E. Gambineri,et al.  Point mutants of forkhead box P3 that cause immune dysregulation, polyendocrinopathy, enteropathy, X-linked have diverse abilities to reprogram T cells into regulatory T cells. , 2010, The Journal of allergy and clinical immunology.

[22]  P. Jouk,et al.  Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome , 2010, Prenatal diagnosis.

[23]  H. Ochs,et al.  Immune deficiencies , infection , and systemic immune disorders Stable hematopoietic cell engraftment after low-intensity nonmyeloablative conditioning in patients with immune dysregulation , polyendocrinopathy , enteropathy , X-linked syndrome , 2010 .

[24]  T. Torgerson,et al.  The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies. , 2010, Journal of autoimmunity.

[25]  F. Rieux-Laucat,et al.  Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy. , 2010, Gastroenterology.

[26]  B. Ni,et al.  Reduced FOXP3 expression causes IPEX syndrome onset: An implication from an IPEX patient and his disease-free twin brother. , 2010, Clinical immunology.

[27]  A. Linglart,et al.  CL172 - Ostéoporose Idiopathique Juvénile : présentation d’une série de 24 patients , 2010 .

[28]  E. d'Hennezel,et al.  FOXP3 forkhead domain mutation and regulatory T cells in the IPEX syndrome. , 2009, The New England journal of medicine.

[29]  E. Pivnick,et al.  An Infant With Erythroderma, Skin Scaling, Chronic Emesis, and Intractable Diarrhea , 2009, Clinical pediatrics.

[30]  H. Dorchy,et al.  Severe Gastritis in an Insulin-dependent Child With an IPEX Syndrome , 2009, Journal of pediatric gastroenterology and nutrition.

[31]  M. Dorsey,et al.  FOXP3 expression following bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning , 2009, Immunologic research.

[32]  M. A. Curotto de Lafaille,et al.  Natural and adaptive foxp3+ regulatory T cells: more of the same or a division of labor? , 2009, Immunity.

[33]  F. Rieux-Laucat,et al.  Cutaneous manifestations of immune dysregulation, polyendocrinopathy, enteropathy, X‐linked (IPEX) syndrome , 2009, The British journal of dermatology.

[34]  H. Kanegane,et al.  Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome , 2009, Pediatric Nephrology.

[35]  L. Mouthon,et al.  Autoimmune manifestations in primary immune deficiencies. , 2009, Autoimmunity reviews.

[36]  A. Hattersley,et al.  Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes , 2009, Diabetes Care.

[37]  Jeff E. Mold,et al.  Maternal Alloantigens Promote the Development of Tolerogenic Fetal Regulatory T Cells in Utero , 2008, Science.

[38]  W. Friedrich,et al.  Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity. , 2008, The Journal of allergy and clinical immunology.

[39]  A. Coutinho,et al.  A Remarkable Depletion of Both Naïve CD4+ and CD8+ with High Proportion of Memory T Cells in an IPEX Infant with a FOXP3 Mutation in the Forkhead Domain , 2008, Scandinavian journal of immunology.

[40]  T. Nomura,et al.  Regulatory T Cells and Immune Tolerance , 2008, Cell.

[41]  P. Yong,et al.  Use of Sirolimus in IPEX and IPEX-Like Children , 2008, Journal of Clinical Immunology.

[42]  K. Lucas,et al.  Epstein Barr virus induced lymphoma in a child with IPEX syndrome , 2008, Pediatric blood & cancer.

[43]  P. Amrolia,et al.  Immune Reconstitution and Recovery of FOXP3 (Forkhead Box P3)-Expressing T Cells After Transplantation for IPEX (Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked) Syndrome , 2008, Pediatrics.

[44]  H. Ochs,et al.  Primary Immune Deficiency Disorders Presenting as Autoimmune Diseases: IPEX and APECED , 2008, Journal of Clinical Immunology.

[45]  J. Bryan,et al.  Neonatal diabetes mellitus. , 2008, Endocrine reviews.

[46]  H. Kanegane,et al.  Developmental changes of FOXP3-expressing CD4+CD25+ regulatory T cells and their impairment in patients with FOXP3 gene mutations. , 2007, Clinical immunology.

[47]  Y. Makita,et al.  Molecular basis of neonatal diabetes in Japanese patients. , 2007, The Journal of clinical endocrinology and metabolism.

[48]  H. Ochs,et al.  Intensive postgrafting immune suppression combined with nonmyeloablative conditioning for transplantation of HLA-identical hematopoietic cell grafts: results of a pilot study for treatment of primary immunodeficiency disorders , 2007, Bone Marrow Transplantation.

[49]  R. Przygodzki,et al.  Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: an unusual cause of proteinuria in infancy , 2007, Pediatric Nephrology.

[50]  F. Rieux-Laucat,et al.  Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene. , 2007, Gastroenterology.

[51]  H. Ochs,et al.  A Potential Screening Tool for IPEX Syndrome , 2007, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

[52]  A. Fischer,et al.  Omenn syndrome: a rare case of neonatal erythroderma. , 2007, European journal of dermatology : EJD.

[53]  G. Fulchiero,et al.  Norwegian scabies mimicking onychomycosis and scalp dermatitis in a child with IPEX syndrome. , 2007, Journal of the American Academy of Dermatology.

[54]  A. Ventura,et al.  Medium-term survival without haematopoietic stem cell transplantation in a case of IPEX: insights into nutritional and immunosuppressive therapy , 2007, European Journal of Pediatrics.

[55]  F. Saulsbury,et al.  Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) associated with pemphigoid nodularis: a case report and review of the literature. , 2006, Journal of the American Academy of Dermatology.

[56]  S. Ziegler,et al.  Defective regulatory and effector T cell functions in patients with FOXP3 mutations. , 2006, The Journal of clinical investigation.

[57]  A. Ugazio,et al.  Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome. , 2006, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.

[58]  A. Rudensky,et al.  Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development. , 2006, Proceedings of the National Academy of Sciences of the United States of America.

[59]  E. Ito,et al.  Low-dose cyclosporine A in a patient with X-linked immune dysregulation, polyendocrinopathy and enteropathy , 2005, European Journal of Pediatrics.

[60]  H. Ochs,et al.  Successful use of the new immune-suppressor sirolimus in IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome). , 2005, The Journal of pediatrics.

[61]  W. Reardon,et al.  Clinical and molecular findings in IPEX syndrome , 2005, Archives of Disease in Childhood.

[62]  R. Badolato,et al.  A new case of IPEX receiving bone marrow transplantation , 2005, Bone Marrow Transplantation.

[63]  L. Goldsmith,et al.  Dermatologic and immunologic findings in the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. , 2004, Archives of dermatology.

[64]  S. Pearce,et al.  Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome. , 2003, The Journal of clinical endocrinology and metabolism.

[65]  B. Sartor,et al.  Targeting enteric bacteria in treatment of inflammatory bowel diseases: why, how, and when , 2003, Current opinion in gastroenterology.

[66]  T. Nomura,et al.  Control of Regulatory T Cell Development by the Transcription Factor Foxp3 , 2002 .

[67]  A. Filipovich,et al.  Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome , 2002, Journal of medical genetics.

[68]  H. Ochs,et al.    Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX) , 2001, Journal of medical genetics.

[69]  I. Caramalho,et al.  Regulatory T cells: the physiology of autoreactivity in dominant tolerance and “quality control” of immune responses , 2001, Immunological reviews.

[70]  A. Coutinho,et al.  In vivo models of dominant T-cell tolerance: where do we stand today? , 2001, Trends in immunology.

[71]  A. Fischer,et al.  Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation. , 2001, The New England journal of medicine.

[72]  E. Levy-Lahad,et al.  Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome. , 2001, The Journal of pediatrics.

[73]  A. Bowcock,et al.  JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome. , 2000, The Journal of clinical investigation.

[74]  B. Gibson,et al.  A preterm baby with Omenn syndrome , 2000, European Journal of Pediatrics.

[75]  U. Francke,et al.  Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome. , 2000, American journal of medical genetics.

[76]  J. Peake,et al.  X-linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea. , 1996, Archives of disease in childhood. Fetal and neonatal edition.

[77]  A. Coutinho,et al.  A Model for Developmentally Acquired Thymus‐Dependent Tolerance to Central and Peripheral Antigens , 1996, Immunological reviews.

[78]  B. Powell,et al.  An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. , 1982, The Journal of pediatrics.

[79]  W. A. Shewhart,et al.  Quality control , 1927 .

[80]  Jeff E. Mold,et al.  Immunological tolerance during fetal development: from mouse to man. , 2012, Advances in immunology.

[81]  D. Lewis,et al.  CHAPTER 4 – Developmental Immunology and Role of Host Defenses in Fetal and Neonatal Susceptibility to Infection , 2011 .

[82]  F. Rieux-Laucat,et al.  Digestive histopathological presentation of IPEX syndrome , 2009, Modern Pathology.

[83]  M. Onis,et al.  [WHO growth standards for infants and young children]. , 2009, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

[84]  S. Davies,et al.  Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. , 2007, Blood.

[85]  K. Lucas,et al.  Submyeloablative cord blood transplantation corrects clinical defects seen in IPEX syndrome , 2007, Bone Marrow Transplantation.

[86]  A. Coutinho,et al.  Tolerance and autoimmunity: lessons at the bedside of primary immunodeficiencies. , 2007, Advances in immunology.

[87]  Christopher B Wilson,et al.  Developmental Immunology and Role of Host Defenses in Fetal and Neonatal Susceptibility to Infection , 2006 .

[88]  A. Coutinho,et al.  Thymic commitment of regulatory T cells is a pathway of TCR-dependent selection that isolates repertoires undergoing positive or negative selection. , 2005, Current topics in microbiology and immunology.

[89]  J. Casanova,et al.  X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy , 2001, Nature Genetics.

[90]  H. Ochs,et al.  The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3 , 2001, Nature Genetics.

[91]  C. Corbel,et al.  Effect of early embryonic grafting of foreign tissues on the immune response of the host. , 1989, Progress in clinical and biological research.