The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies

Tsuda, Masanobu; Torgerson, Troy R.; Selmi, Carlo; Gambineri, Eleonora; Carneiro‐Sampaio, Magda; Mannurita, Sara Ciullini; Leung, Patrick S.C.; Norman, Gary L.; Gershwin, M. Eric

doi:10.1016/j.jaut.2010.06.017

Cited by 101 publications

(68 citation statements)

References 43 publications

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“…Patients with IPEX syndrome develop autoantibodies, and our patient tested positive for several, including antibodies against glutamic acid decarboxylase, thyroperoxidase, and nuclear antigens. 39,43 We investigated whether human mouse-specific autoantibodies were For personal use only. on May 12, 2018.…”

Section: Engraftment Of Ipex Cd34mentioning

confidence: 99%

Fatal autoimmunity in mice reconstituted with human hematopoietic stem cells encoding defective FOXP3

Goettel

Biswas

Lexmond

et al. 2015

Blood

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• Improved adaptive immune responses in humanized mice lacking murine MHC II and expressing human HLADR1.• NOD.Prkdc H2-Ab1 2/2Tg(HLA-DR1) mice reconstituted with hematopoietic stem cells from an IPEX syndrome patient develop fatal autoimmunity.Mice reconstituted with a human immune system provide a tractable in vivo model to assess human immune cell function. To date, reconstitution of murine strains with human hematopoietic stem cells (HSCs) from patients with monogenic immune disorders have not been reported. One obstacle precluding the development of immune-disease specific "humanized" mice is that optimal adaptive immune responses in current strains have required implantation of autologous human thymic tissue. To address this issue, we developed a mouse strain that lacks murine major histocompatibility complex class II (MHC II) and instead expresses human leukocyte antigen DR1 (HLA-DR1). These mice displayed improved adaptive immune responses when reconstituted with human HSCs including enhanced T-cell reconstitution, delayed-type hypersensitivity responses, and class-switch recombination. Following immune reconstitution of this novel strain with HSCs from a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, associated with aberrant FOXP3 function, mice developed a lethal inflammatory disorder with multiorgan involvement and autoantibody production mimicking the pathology seen in affected humans. This humanized mouse model permits in vivo evaluation of immune responses associated with genetically altered HSCs, including primary immunodeficiencies, and should facilitate the study of human immune pathobiology and the development of targeted therapeutics. (Blood. 2015;125(25):3886-3895)

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Section: Engraftment Of Ipex Cd34mentioning

confidence: 99%

Fatal autoimmunity in mice reconstituted with human hematopoietic stem cells encoding defective FOXP3

Goettel

Biswas

Lexmond

et al. 2015

Blood

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“…1 IPEX syndrome should be considered in any young male infant with intractable diarrhoea and/or gut villous atrophy and failure to thrive (FTT). Without treatment, many patients die in the first 2 years of life because of sepsis or FTT.…”

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confidence: 99%

Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

Nademi

Slatter

Gambineri³

et al. 2013

Bone Marrow Transplant

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“…У пациентов с аутоиммунным гепати-том определяются ASMA и анти-LKM антитела и др. [20]. В то же время отсутствие диагностического титра антител у пациентов мужского пола с ПНСД и сопутствующей аутоиммунной патологией, по мне-нию O. Rubio-Cabezas и соавт.…”

Section: Discussionunclassified

X-linked immune dysregulation, polyendocrinopathy and enteropathy (IPEX syndrome): the description of a clinical case and a short literature review

Тихонович¹,

Петряйкина²,

Рыбкина³

et al. 2014

Probl Endokrinol (Mosk)

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IPEX syndrome (X-linked immune dysregulation, polyendocrinopathy, enteropathy) is one of the rare hereditary X-linked forms of neonatal diabetes mellitus associated with mutations in the FOXP3 gene. The disease is characterized by the combination of polyendocrinopathy (more frequently neonatal diabetes mellitus) with enteropathy and immune dysregulation. In the majority of the cases it has an unfavourable prognosis. The present article presents for the first time in the Russian-speaking literature the description of the genetically verified case of IPEX syndrome.

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The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies

Cited by 101 publications

References 43 publications

Fatal autoimmunity in mice reconstituted with human hematopoietic stem cells encoding defective FOXP3

Fatal autoimmunity in mice reconstituted with human hematopoietic stem cells encoding defective FOXP3

Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

X-linked immune dysregulation, polyendocrinopathy and enteropathy (IPEX syndrome): the description of a clinical case and a short literature review

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