Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) associated with pemphigoid nodularis: A case report and review of the literature

McGinness, Jamie L.; Bivens, Mary-Margaret C.; Greer, Kenneth E.; Patterson, James W.; Saulsbury, Frank T.

doi:10.1016/j.jaad.2005.08.047

Cited by 82 publications

(52 citation statements)

References 47 publications

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“…A potential clinical relevance for our observations is highlighted by the fact that depletion of B cells in affected Scurfy mice resulted in a reduction of inflammation and a prolonged survival. To our knowledge, there is only one case study in human IPEX patients so far, showing that the skin phenotype was ameliorated under B-cell depletion therapy in one treated IPEX patient (29). Although this is not direct proof that B-cell depletion may have a therapeutic benefit in human IPEX patients, it at least suggests that autoantibody production by B cells also contributes to the disease phenotype in humans.…”

Section: Therapeutic Depletion Of B Cells Interferes With Autoimmunitmentioning

confidence: 90%

B cells are critical for autoimmune pathology in Scurfy mice

Aschermann

Lehmann

Mihai

et al. 2013

Proc. Natl. Acad. Sci. U.S.A.

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Impaired regulatory T-cell function results in a severe chronic autoimmune disease affecting multiple organs in Scurfy mice and humans with the immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. Previous studies have shown that T helper cells but not cytotoxic T cells are critical for the disease pathology. Whether this T-cell subset is responsible directly for tissue inflammation or rather indirectly via the interaction with B cells or myeloid cells is largely unknown. To study this and to identify potential therapeutic targets for this lethal disease we investigated the contribution of B cells to this complex autoimmune phenotype. We show that B cells and the production of autoantibodies plays a major role for skin, liver, lung, and kidney inflammation and therapeutic depletion of B cells resulted in reduced tissue pathology and in prolonged survival. In contrast, the absence of B cells did not impact systemic T-cell activation and hyperreactivity, indicating that autoantibody production by B cells may be a major factor for the autoimmune pathology in mice deficient for regulatory T cells.

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Section: Therapeutic Depletion Of B Cells Interferes With Autoimmunitmentioning

confidence: 90%

B cells are critical for autoimmune pathology in Scurfy mice

Aschermann

Lehmann

Mihai

et al. 2013

Proc. Natl. Acad. Sci. U.S.A.

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“…For example, the successful use of rituximab has recently been reported in IPEX (82). Although we are not aware of the use of rituximab in man in APS1, it certainly has a dramatic effect in animal models of this condition.…”

Section: Rmentioning

confidence: 98%

An Integrated Classification of Pediatric Inflammatory Diseases, Based on the Concepts of Autoinflammation and the Immunological Disease Continuum

et al. 2009

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“…In addition, other immune-mediated dermatological disorders like alopecia, pemphigoid nodularis, psoriasiform dermatitis or resembling onychomycosis have been described [76,78,79]. The majority of boys with classical IPEX syndrome develop autoimmune hematologic disorders, such as Coombs--positive haemolytic anaemia, neutropenia or thrombocytopenia with anti-platelet antibodies.…”

Section: Ipex Syndromementioning

confidence: 99%