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Previous Volume 344:1758-1762 June 7, 2001 Number 23 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

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The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is a recessive disorder of early childhood.¹ Symptoms of the disease generally appear in infancy and include protracted diarrhea, ichthyosiform dermatitis, insulin-dependent diabetes mellitus, thyroiditis, and hemolytic anemia.^2,3,4,5,6 Nephropathy has been reported in two familial cases of enteropathy with insulin-dependent diabetes mellitus.⁷ X-linked recessive inheritance accounts for the familial cases in the seven kindreds studied to date,^{2,3,4,5,6,7,8,9} but sporadic cases in boys have also been reported.^6,10,11,12

The results of immunologic investigations of IPEX¹ are inconsistent with any of the known X-linked immunodeficiency diseases.¹³ Severe infections have been observed in patients with IPEX, . . . [Full Text of this Article]

Case Report

Results

Discussion

Source Information

From the Service d'Immunologie et d'Hématologie Pédiatriques (O.B., S.D.-G., A.F., J.-L.C.), Service de Gastro-enterologie Pédiatrique (O.G.), Service d'Anatomie Pathologique (D.C., N.B.), Laboratoire INSERM Unité 429 (F.L.D., M.C.-C., A.F.), Laboratoire de Cytogénétique Hématologique (I.R.), Laboratoire INSERM E9925 (N.C.-B.), and Laboratoire Université René Descartes–INSERM Unité 550 (J.-L.C.), Hôpital Necker–Enfants Malades, Paris; and the Service de Pédiatrie 2, Hôpital Arnaud de Villeneuve, Montpellier, France (D.R.).

Other authors were Christine Rivet, M.D., Service de Gastro-enterologie Pédiatrique, and Christine Bodemer, M.D., Service de Dermatologie Pédiatrique, Hôpital Necker–Enfants Malades, Paris; and Robert Wildin, M.D., Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland.

Address reprint requests to Dr. Casanova at the Unité d'Immunologie et d'Hématologie Pédiatriques, Hôpital Necker–Enfants Malades, 149 rue de Sèvres, 75015 Paris, France, or at casanova@necker.fr.

References

This article has been cited by other articles:

• Redding, A. R., Lew, D. B., Conley, M. E., Pivnick, E. K. (2009). An Infant With Erythroderma, Skin Scaling, Chronic Emesis, and Intractable Diarrhea. CLIN PEDIATR 48: 978-980  
• Seidel, M. G., Fritsch, G., Lion, T., Jurgens, B., Heitger, A., Bacchetta, R., Lawitschka, A., Peters, C., Gadner, H., Matthes-Martin, S. (2009). Selective engraftment of donor CD4+25high FOXP3-positive T cells in IPEX syndrome after nonmyeloablative hematopoietic stem cell transplantation. Blood 113: 5689-5691 [Full Text]  
• Gischel, M. E., Beck, C., Hall, M. (2009). A Mystery Diagnosis: Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Recessive. Lab Med 40: 303-306 [Abstract] [Full Text]  
• Zhan, H., Sinclair, J., Adams, S., Cale, C. M., Murch, S., Perroni, L., Davies, G., Amrolia, P., Qasim, W. (2008). Immune Reconstitution and Recovery of FOXP3 (Forkhead Box P3)-Expressing T Cells After Transplantation for IPEX (Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked) Syndrome. Pediatrics 121: e998-e1002 [Abstract] [Full Text]  
• Singh, N., Chandler, P. R., Seki, Y., Baban, B., Takezaki, M., Kahler, D. J., Munn, D. H., Larsen, C. P., Mellor, A. L., Iwashima, M. (2007). Role of CD28 in fatal autoimmune disorder in scurfy mice. Blood 110: 1199-1206 [Abstract] [Full Text]  
• Rao, A., Kamani, N., Filipovich, A., Lee, S. M., Davies, S. M., Dalal, J., Shenoy, S. (2007). Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. Blood 109: 383-385 [Abstract] [Full Text]  
• (2004). Dermatologic and Immunologic Findings in the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome. Arch Dermatol 140: 466-472  
• Hochberg, E. P., Miklos, D. B., Neuberg, D., Eichner, D. A., McLaughlin, S. F., Mattes-Ritz, A., Alyea, E. P., Antin, J. H., Soiffer, R. J., Ritz, J. (2003). A novel rapid single nucleotide polymorphism (SNP)-based method for assessment of hematopoietic chimerism after allogeneic stem cell transplantation. Blood 101: 363-369 [Abstract] [Full Text]  
• Wildin, R S, Smyk-Pearson, S, Filipovich, A H (2002). Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. J. Med. Genet. 39: 537-545 [Abstract] [Full Text]  
• Kobayashi, I., Kawamura, N., Okano, M. (2001). A Long-Term Survivor with the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome. NEJM 345: 999-1000 [Full Text]