LONG SURVIVAL OF A PATIENT WITH IPEX SYNDROME (IMMUNODYSREGULATION, POLYENDOCRINOPATHY, ENTEROPATHY, X-LYNKED)
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1
Università Cattolica del Sacro Cuore, Italy
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2
Ospedale San Raffaele, Italy
We report the case of a 30-year-old man with a history of intractable diarrhea associated to atopic eczema since he was 5-month-old; a diagnosis of autoimmune enteritis associated to autoimmune thrombocytopenia and arthritis was later made. After several years of artificial nutrition and systemic steroids, a partial clinical remission was obtained and maintained with oral cyclosporine. He was admitted to our Hospital in January 2010 presenting a relapse of intestinal symptoms, severe weight loss (BMI 17.9) and renal failure. Laboratory tests showed malabsorption signs and altered inflammation indexes. Cyclosporine was discontinued and intravenous steroid therapy was started associated with enteral nutrition, with partial benefit. No macroscopic lesions were found at endoscopic examination, whereas severe acute and chronic inflammation was documented at histological analysis. Considering all clinical and laboratory findings, an IPEX syndrome was hypothesized. Serological tests confirmed the positivity of antienterocyte IgG antibodies by indirect immunofluorescence on primate jejunum. Peripheral level of CD4+CD25+FOXP3+ T cells was 1.5% (normal value 3%). At genetic analysis the patient resulted hemizygote for c.816+2delT, a new splicing mutation on FOXP3 gene, confirming the diagnosis of IPEX syndrome. Immunosuppressive therapy with sirolimus (0.03 mg/kg/die) was started, with clinical benefit. After 3 months of treatment, the patient developed a persistent not nephrotic proteinuria, that resolved after replacing sirolimus with tacrolimus (0.1 mg/kg bid). During last 3 years of follow-up, the patient was in clinical remission continuing treatment with tacrolimus, without other complications. This represents the most long-lived case of IPEX syndrome reported so far.
Keywords:
IPEX,
T regulatory cell,
Foxp3,
autoimmune enteritis,
Tacrolimus
Conference:
15th International Congress of Immunology (ICI), Milan, Italy, 22 Aug - 27 Aug, 2013.
Presentation Type:
Abstract
Topic:
Adaptive Immunity
Citation:
Felice
C,
Papa
A,
Bacchetta
R,
Armuzzi
A,
Marzo
M,
Andrisani
G,
Pugliese
D,
De Vitis
I,
Rapaccini
G and
Guidi
L
(2013). LONG SURVIVAL OF A PATIENT WITH IPEX SYNDROME (IMMUNODYSREGULATION, POLYENDOCRINOPATHY, ENTEROPATHY, X-LYNKED).
Front. Immunol.
Conference Abstract:
15th International Congress of Immunology (ICI).
doi: 10.3389/conf.fimmu.2013.02.00731
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Received:
13 Jun 2013;
Published Online:
22 Aug 2013.
*
Correspondence:
Prof. Luisa Guidi, Università Cattolica del Sacro Cuore, Roma, Italy, lguidi@rm.unicatt.it