Clinical outcome in IL-10– and IL-10 receptor–deficient patients with or without hematopoietic stem cell transplantation

Engelhardt, Karin R.; Shah, Neil; Faizura-Yeop, Intan; Uygun, Dilara Fatma Kocacık; Frede, Natalie; Muise, Aleixo M.; Shteyer, Eyal; Filiz, Serkan; Chee, Ronnie; Elawad, Mamoun; Hartmann, Britta; Arkwright, Peter D.; Dvorak, Christopher C.; Klein, Christoph; Puck, Jennifer M.; Grimbacher, Bodo; Glocker, Erik

doi:10.1016/j.jaci.2012.09.025

Cited by 233 publications

(206 citation statements)

References 26 publications

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“…Unfortunately, most of the patients are resistant to these therapies. 3,6 Similarly, the present case did not respond to immunosuppressive treatment. Mesenchymal stem cell treatment which is shown to be effective in the treatment of resistant inflammatory bowel disease, 7 was given to this patient prior to HSCT, to provide, at least, a transient improvement in bowel function and to reduce the risk of transplant-associated complications.…”

supporting

confidence: 62%

Successful outcome with second hematopoietic stem cell transplantation in a patient with IL-10R deficiency

Kuşkonmaz

Ayvaz

Aydemir

et al. 2015

Bone Marrow Transplant

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supporting

confidence: 62%

Successful outcome with second hematopoietic stem cell transplantation in a patient with IL-10R deficiency

Kuşkonmaz

Ayvaz

Aydemir

et al. 2015

Bone Marrow Transplant

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“…Taking into account all reported patients with IL-10 (n 5 5), IL-10R1 (n 5 11), or IL-10R2 (n 5 19) deficiencies, [6][7][8][9][10]43 the frequency of developing lymphoma is estimated to be 36% (5 of 14) at the age of 7 years (in the absence of a previous HSCT). It is noteworthy that lymphomagenesis has not been reported in mice with impaired IL-10-mediated pathways, despite the onset of IBD, 11,44 suggesting either the existence of marked differences between mice and humans or insufficient follow-up of the mice in an adequate environment.…”

Section: Discussionmentioning

confidence: 99%

“…4,5 Loss-of-function mutations in one or another of the interleukin-10 (IL-10) receptor's two chains (IL-10R1 and IL-10R2) or in IL-10 itself are detected in about 20% of VEO-IBD patients. [6][7][8][9][10] Studies of IL-10/IL-10R knockout mice have shown that this cytokine is a key checkpoint for maintaining immune homeostasis toward intestinal microbiota. 11,12 Chronic intestinal inflammation is a known risk factor for the development of malignancies.…”

Section: Introductionmentioning

confidence: 99%

A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency

Neven

Mamessier

Bruneau

et al. 2013

Blood

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117

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“…CGD, IL-10/IL-10 receptor deficiency, WAS, IPEX and IPEX-like diseases, and severe combined immune deficiencies are among these immune deficiencies (28). An underlying immune deficiency should be kept in mind, especially in the presence of very early-onset IBD (below age six months), consanguineous marriage or multiple family members affected, and in patients with unresponsiveness to treatment and accompanying autoimmunity, because stem cell transplantation will be among the therapeutic options other than ordinary IBD treatment, if immune deficiency is found (11,29). In addition, therapeutic interventions directed to prevent infections may also affect survival.…”

Section: Discussionmentioning

confidence: 99%

The plethora, clinical manifestations and treatment options of autoimmunity in patients with primary immunodeficiency

et al. 2016

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Aim: Although the association between primary immunodeficiency and autoimmunity is already well-known, it has once again become a topic of debate with the discovery of newly-defined immunodeficiencies. Thus, investigation of the mechanisms of development of autoimmunity in primary immunodefficiency and new target-specific therapeutic options has come to the fore. In this study, we aimed to examine the clinical findings of autoimmunity, autoimmunity varieties, and treatment responses in patients who were genetically diagnosed as having primary immunodeficiency. Material and Methods:The files of patients with primary immunodeficiency who had clinical findings of autoimmunity, who were diagnosed genetically, and followed up in our clinic were investigated. The demographic and clinical features of the patients and their medical treatments were evaluated.Results: Findings of autoimmunity were found in 30 patients whose genetic mutations were identified. The mean age at the time of the first symptoms was 8.96±14.64 months, and the mean age of receiving a genetic diagnosis was 82.55±84.71 months. The most common diseases showing findings of autoimmunity included immune dysregulation, polyendocrinopathy, enteropathy X-linked syndrome (16.7%); autoimmune lymphoproliferative syndrome (10%); lipopolysaccharide-responsive beige-like anchor protein deficiency (10%); and DiGeorge syndrome (10%). Twelve (40%) patients showed findings of autoimmunity at the time of first presentation. The most common findings of autoimmunity included inflammatory bowel disease, inflammatory bowel disease-like findings (n=14, 46.7%), immune thrombocytopenic purpura (n=11, 36.7%), and autoimmune hemolytic anemia (n=9, 30.0%). A response to immunosupressive agents was observed in 15 (50%) patients. Ten patients underwent hematopoietic stem cell transplantation. Six patients were lost to follow-up due to a variety of complications. Conclusion:Autoimmunity is frequently observed in patients with primary immunodeficiency. The possibility of primary immunodeficiency should be considered in patients with early-onset manifestations of autoimmunity, and these patients should be carefully monitored in terms of immunodeficiency development. Early diagnosis of primary immunodeficiency may provide favorable outcomes in terms of survival. (Turk Pediatri Ars 2016; 51: 186-92)

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Clinical outcome in IL-10– and IL-10 receptor–deficient patients with or without hematopoietic stem cell transplantation

Cited by 233 publications

References 26 publications

Successful outcome with second hematopoietic stem cell transplantation in a patient with IL-10R deficiency

Successful outcome with second hematopoietic stem cell transplantation in a patient with IL-10R deficiency

A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency

The plethora, clinical manifestations and treatment options of autoimmunity in patients with primary immunodeficiency

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