Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: case report a
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Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: case report and review of outcomes Perdita Permaul Æ Anupama Narla Æ Jason L. Hornick Æ Sung-Yun Pai
Published online: 19 February 2009 Ó Springer Science+Business Media, LLC 2008
Abstract Hypomorphic mutations in nuclear factor kappa B essential modulator (NEMO) cause X-linked ectodermal dysplasia with immunodeficiency (X-ED-ID). Clinical manifestations in boys with X-ED-ID apart from ectodermal dysplasia and immunodeficiency include osteopetrosis, lymphedema, and colitis. Further description of atypical findings in this disorder is needed. Treatment with allogeneic hematopoietic stem cell transplantation (HSCT) is in its infancy, and how or whether non-immune manifestations of defective NEMO function are impacted by HSCT is poorly described. We report an interesting case of a boy with NEMO mutation who had symptoms reminiscent of Omenn’s syndrome and small intestinal villous atrophy with features reminiscent of tufting enteropathy. We describe his treatment course as well as reconstitution of immune function
P. Permaul Division of Immunology, Children’s Hospital Boston, Boston, MA, USA P. Permaul A. Narla J. L. Hornick S.-Y. Pai Harvard Medical School, Boston, MA, USA A. Narla S.-Y. Pai Division of Hematology, Children’s Hospital Boston, 300 Longwood Avenue, Boston, MA 02115, USA A. Narla S.-Y. Pai Department of Pediatric Oncology, Dana-Farber Cancer Institute, 44 Binney Street, Boston, USA J. L. Hornick Department of Pathology, Children’s Hospital Boston, Boston, MA, USA J. L. Hornick Department of Pathology, Brigham and Women’s Hospital, Boston, MA, USA S.-Y. Pai (&) Division of Hematology, Karp Family Research Laboratories, Children’s Hospital Boston, Room 08214, 300 Longwood Avenue, Boston, MA 02115, USA e-mail: [email protected]
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Immunol Res (2009) 44:89–98
and correction of osteopetrosis post-HSCT, and review the cases of allogeneic HSCT reported to date in the literature. Keywords
Immunodeficiency Transplantation Dermatitis Enteropathy
Background X-linked ectodermal dysplasia with immunodeficiency (X-ED-ID) is caused by hypomorphic mutations of the inhibitory jB kinase c gene (IKKc, IKBKG), encoding nuclear factor kappa B (NF-jB) essential modulator (NEMO), a critical regulator of NF-jB signaling [1–3]. NEMO is the regulatory subunit of the kinase responsible for the phosphorylation and deactivation of the inhibitor of NF-jB and thus deficiency in NEMO function results in lack of NF-jB activation. While the NF-jB family of transcription factors is ubiquitously expressed, defective NEMO function in humans typically disrupts ectodermal development and immune function. The critical importance of NEMO function in development is underscored by the fact that null mutations of NEMO are generally lethal in males, while female carriers of null mutations have the X-linked dominant disease, incontinentia pigmenti, and skewed X-inactivation (reviewed in [4–6]). Intact exp
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