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IIPEX stands for Immune Dysregulation Polyendocrinopathy Enteropathy X-linked.

IPEX Syndrome is a rare genetic autoimmune disease due to mutations in the FOXP3 gene, located on the X-chromosome.

IPEX Syndrome is classified as a primary immunodeficiency since mutations in the FOXP3 gene lead to absence or dysfunction in a subset of T lymphocytes with regulatory function (Treg).

Affected males present with early onset severe enteropathy usually accompanied by insulin-dependent diabetes (Type 1 ). Elevated serum IgE and dermatitis (with aspects of both eczema and psoriasis) are also present. Other autoimmune symptoms include hypothyroidisms, anemia, thrombocytopenia and neutropenia.

The onset in the severe form of the disease occurs within the first month of life and can be rapidly fatal. Given the severity of the disease and the partial knowledge of the pathogenesis, the current pharmacological therapy still remain of partial efficacy. Immunosuppressive drugs, such as steroids, cyclosporine, tacrolimus and rapamycin, have been most commonly used with no permanent control of the clinical manifestations. The use of allogeneic hematopoietic stem cell (HSC) transplantation has been limited, but, when performed before severe autoimmunity develops, can be an effective cure.

The activity of the Italian Study Group of IPEX is devoted to help physicians in the diagnosis and in the therapeutic choices for affected children, and to study the biological mechanisms leading from the mutations to the disease and to define alternative, more effective therapies.

Part of the activity of the Italian Study Group of IPEX is supported by the Telethon Foundation, Rome.









Lentiviral-mediated FOXP3 gene transfer converts FOXP3-mutated effector T cells into regulatory T cells: towards gene therapy for IPEX syndrome.

Bacchetta R. Presentation at the 2013 CIS (Clinical Immunoly Society) Annual Meeting: Regulation & Dysregulation of Immunity, April 25-28 2013, Miami FL.

Harmonin autoantibodies measured by LIPS are specific markers of IPEX and differentiate IPEX from IPEX-like syndromes.

Barzaghi F 2013 CIS (Clinical Immunoly Society) Annual Meeting: Regulation & Dysregulation of Immunity, April 25-28 2013, Miami FL.

XIVth meeting of the European Society for Immunodeficiencies in Istanbul, 2010

Workshop Education
IPEX & IPEX-like disorders: clinical features; how to treat.
Eleonora Gambineri & Mary Slatter

Plenary Session
IPEX and IPEX-like syndromes
Maria Grazia Roncarolo

more info: www.esid2010.org


First CIS North American Primary Immune Deficiency National Conference
, 2010 Philadelphia, PA
Abstract accepted for oral presentation:
Qualitative and quantitative regulatory T cell defects in patients with IPEX and IPEX-like syndromes.
Rosa Bacchetta

more info: www.clinimmsoc.org


2nd EUROPEAN CONGRESS OF IMMUNOLOGY
Berlin, September 13-16, 2009
Abstract accepted for oral presentation:
"Increased Th17 cells in patients with FOXP3 mutations: a possible role for Th17 cells in the pathogenesis of IPEX syndrome?"
Laura Passerini and Rosa Bacchetta


First International Conference on Immune Tolerance
Boston, October 25-27, 2009
Abstract accepted for oral presentation:
"Analysis of the demethylation status of FOXP3 allows reliable identification of quantitative Treg cell defects in children with multiple autoimmunity of genetic or unknown origin."
Laura Passerini and Rosa Bacchetta


XV TELETHON SCIENTIFIC CONVENTION
Riva del Garda (Trento) March 9-11, 2009


WORLD IMMUNE REGULATION MEETING III, special focus on"regulatory & effector mechanisms".
Davos, Switzerland March 22-25, 2009 Abstract accepted for oral presentation:
"Analysis of wild-type versus mutated FOXP3 distribution in regulatory and effector CD4+ T cells derived from healthy carriers of FOXP3 mutations as tool to investigate the role of FOXP3 in immune regulation."
Di Nunzio Sara, Cecconi Massimiliano, McMurchy Alicia Nicole, Passerini Laura, Vignola Silvia, Tommasini Alberto, Levings Megan K., Perroni Lucia, Roncarolo Maria Grazia and Bacchetta Rosa.


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