Autoimmune and inflammatory manifestations in pediatric patients with primary immunodeficiencies and their importance as a warning sign

Kaplan, MJ; Özen, Selime; Akçal, Ömer; Gülez, Nesrin; Genel, Ferah

doi:10.1016/j.aller.2020.02.009

Cited by 6 publications

(16 citation statements)

References 32 publications

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“…Instead, this may imply overlooking of autoimmune manifestations as a sign of immunodeficiency by physicians who may not yet be familiar with the heterogeneous clinical picture and appropriate diagnostic approach to these disorders and lack of multidisciplinary investigation of these patients. Therefore, as in previous studies, 8,19 we suggest adding autoimmunity to the warning signs of inborn errors of immunity, thereby emphasizing the important diagnostic and prognostic role of autoimmune disorders. 11 (10)(11)(12)(13) 11 (10-12.4) .527…”

Section: Discussionsupporting

confidence: 61%

“…Among patients with autoimmunity, hematologic (42.2%), rheumatologic (26.7%), gastrointestinal (27.2%), dermatologic (16.7%), neurologic (7.8%), and endocrine (7.8%) affected organs by autoimmune diseases were documented. Moreover, in patients with monogenic IEIs, immune thrombocytopenic purpura (ITP) (6.5%), juvenile idiopathic arthritis (JIA) (4.8%), and autoimmune TA B L E 1 Demographic data in patients with monogenic inborn errors of immunity 11 (6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20) 13 (8-21.5) 11 (5.7-20) .030 * 11 (6.5-21.5) 14.5 (10.2-21.5) .307…”

Section: Clinical Evaluationmentioning

confidence: 99%

“…T cells (% of T cells) (n = 388) 27 26.5 (19)(20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30)(31)(32)(33)(34)(35)(36)(37) 27 (17-39.9) .860 27 (18.5-36.5) 26 (19.3-39.5) .830 5.5 (2.7-11.3) 10 (5-27) . 14 (3-74.1) .125 8 (0.7-41.7)…”

Section: Cd8 +mentioning

confidence: 99%

“…. The prevalence of polyautoimmunity and the number of autoimmunities per individual in patients with IEIs are not clear; however, several recent studies [18][19][20] have partly addressed these uncertainties. In the present study, among 92 patients with autoimmune disorders, 64 (69.6%) patients had a single type of autoimmunity, 19 (20.6%) patients had two, 4 (4.3%) patients had three, and 5 (5.4%) patients had four types of autoimmunities.…”

Section: Cd8 +mentioning

confidence: 99%

See 3 more Smart Citations

Autoimmune manifestations among 461 patients with monogenic inborn errors of immunity

Azizi

Tavakol

Yazdani

et al. 2021

Pediatric Allergy Immunology

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Section: Discussionsupporting

confidence: 61%

Section: Clinical Evaluationmentioning

confidence: 99%

Section: Cd8 +mentioning

confidence: 99%

Section: Cd8 +mentioning

confidence: 99%

See 2 more Smart Citations

Autoimmune manifestations among 461 patients with monogenic inborn errors of immunity

Azizi

Tavakol

Yazdani

et al. 2021

Pediatric Allergy Immunology

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show abstract

“…Sepsis is a systemic inflammatory response syndrome that affects multiple systems and organs, even leading to patient's death. 1,2 In sepsis, various inflammatory factors and inflammatory mediators, including tumor necrosis factor α (TNF-α), interleukin (IL)-6, and IL-10 are released and activated, resulting in pro-and anti-inflammatory processes, which means the immune function of the body is damaged. Among them, acute lung and kidney injuries are common and serious complications of sepsis patients, with an incidence rate of as high as 40-70%.…”

Section: Introductionmentioning

confidence: 99%

MEF2C alleviates acute lung injury in cecal ligation and puncture (CLP)-induced sepsis rats by up-regulating AQP1

Liang

Guo

Liu

et al. 2021

aei

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Background: Sepsis is a systemic inflammatory response syndrome and leads to patient’s death. Objective: To investigate the effect of myocyte enhancer factor 2 (MEF2C) on acute lung injury (ALI) with sepsis and its possible mechanism.Material and Methods: The cecal ligation and puncture (CLP)-induced sepsis rat model was established. The lung injury was determined by lung wet–dry weight ratio, the concentration of inflammatory cytokines, including tumor necrosis factor-α (TNF-α), Interlukin (IL)-6, IL-1β, and IL-10, were measured by the enzyme-linked-immunosorbent serologic assay kit. The cell apoptosis was detected by TUNEL staining assay.Results: Interestingly, MEF2C was down-regulated in this model. Moreover, adeno-associated virus (AAV)-MEF2C treatment markedly suppressed TNF-α, IL-1β, and IL-6 concentrations but promoted IL-10 concentration in serum in CLP-challenged rats. Besides, overexpression of MEF2C alleviates CLP-induced lung injury. Interestingly, AAV-MEF2C treatment was confirmed to suppress apoptosis in CLP-induced sepsis rats as well as promote aquaporin APQ1 expres-sion. Mechanistically, the rescue experiments indicated that MEF2C alleviated CLP-induced lung inflammatory response and apoptosis via up-regulating AQP1.Conclusion: In summary, overexpression of MEF2C suppressed CLP-induced lung inflamma-tory response and apoptosis via up-regulating AQP1, providing a novel therapeutic target for sepsis-induced ALI.

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The Autoimmune Manifestations in Patients with Genetic Defects in the B Cell Development and Differentiation Stages

et al. 2023

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Purpose Primary B cell defects manifesting as predominantly antibody deficiencies result from variable inborn errors of the B cell lineage and their development, including impairments in early bone marrow development, class switch recombination (CSR), or terminal B cell differentiation. In this study, we aimed to investigate autoimmunity in monogenic patients with B cell development and differentiation defects. Methods Patients with known genetic defects in the B cell development and differentiation were recruited from the Iranian inborn errors of immunity registry. Results A total of 393 patients with a known genetic defect in the B cell development and differentiation (257 males; 65.4%) with a median age of 12 (6–20) years were enrolled in this study. After categorizing patients, 109 patients had intrinsic B cell defects. More than half of the patients had defects in one of the ATM (85 patients), BTK (76 patients), LRBA (34 patients), and DOCK8 (33 patients) genes. Fifteen patients (3.8%) showed autoimmune complications as their first manifestation. During the course of the disease, autoimmunity was reported in 81 (20.6%) patients at a median age of 4 (2–7) years, among which 65 patients had mixed intrinsic and extrinsic and 16 had intrinsic B cell defects. The comparison between patients with the mentioned four main gene defects showed that the patient group with LRBA defect had a significantly higher frequency of autoimmunity compared to those with other gene defects. Based on the B cell defect stage, 13% of patients with early B cell defect, 17% of patients with CSR defect, and 40% of patients who had terminal B cell defect presented at least one type of autoimmunity. Conclusion Our results demonstrated that gene mutations involved in human B cell terminal stage development mainly LRBA gene defect have the highest association with autoimmunity.

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Autoimmune and inflammatory manifestations in pediatric patients with primary immunodeficiencies and their importance as a warning sign

Cited by 6 publications

References 32 publications

Autoimmune manifestations among 461 patients with monogenic inborn errors of immunity

Autoimmune manifestations among 461 patients with monogenic inborn errors of immunity

MEF2C alleviates acute lung injury in cecal ligation and puncture (CLP)-induced sepsis rats by up-regulating AQP1

The Autoimmune Manifestations in Patients with Genetic Defects in the B Cell Development and Differentiation Stages

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