Spinal deformity caused by hyperimmunoglobulin E syndrome

Araya, Naoko; Inose, Hiroyuki; Kato, Tsuyoshi; Saito, Masanori; Sumiya, Satoshi; Yamada, Takatsugu; Yoshii, Toshitaka; Kawabata, Shigenori; Okawa, Atsushi

doi:10.3171/2014.4.spine13629

Cited by 3 publications

(2 citation statements)

References 14 publications

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“…and Freeman et al . found that patients with hyperimmunoglobulin E syndrome had idiopathic scoliosis, because the immune deficiencies could lead to abnormalities in the bones and muscles [ 19 , 20 ]. Thus, CD23 may be related to the scoliosis through immune cell infiltration in bones and muscle.…”

Section: Discussionmentioning

confidence: 99%

A targeted antibody-based array reveals a serum protein signature as biomarker for adolescent idiopathic scoliosis patients

Shao,

Zhang,

et al. 2023

BMC Genomics

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Background Evident adolescent idiopathic scoliosis (AIS) incurs high treatment costs, low quality of life, and many complications. Early screening of AIS is essential to avoid progressing to an evident stage. However, there is no valid serum biomarker for AIS for early screening. Methods Antibody-based array is a large-scale study of proteins, which is expected to reveal a serum protein signature as biomarker for AIS. There are two segments of the research, including biomarkers screening and validation. In the biomarkers screening group, a total of 16 volunteers participated in this study, and we carried out differentially expressed proteins screening via protein array assay between No-AIS group and the AIS group, through which GeneSet enrichment analysis was performed. In the validation group with a total of 62 volunteers, the differentially expressed proteins from screening group were verified by Enzyme-Linked immunosorbent assay (ELISA), and then multiple regression analysis. Results In our study, there were twenty-nine differentially expressed proteins in AIS, through Protein array assay and GeneSet enrichment analysis in the biomarkers screening group. Then the expression of FAP, CD23 and B2M decreased as the degree of AIS increased via ELISA in validation group (FAP, p < 0.0001; CD23, p = 0.0002; B2M, p < 0.0001). Further, the results of multiple regression analysis showed that FAP, CD23 are linked to Cobb angle, whereas B2M were excluded because of multicollinearity. Conclusions Altogether, we found that serum protein FAP and CD23 are intimately related to AIS, suggesting FAP and CD23 are expected to serve as the serum biomarkers, which significantly facilitate frequent longitudinal monitoring as to keep track of disease progression and tailor treatment accordingly.

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Section: Discussionmentioning

confidence: 99%

A targeted antibody-based array reveals a serum protein signature as biomarker for adolescent idiopathic scoliosis patients

Shao,

Zhang,

et al. 2023

BMC Genomics

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“…Studies in STAT3 knock out mice confirm an important role for STAT3 in bone homeostasis 19 ; however, a recent study did not demonstrate a relationship between BMD, as measured on dual-energy x-ray absorptiometry (DEXA) scan or serum markers of osteoclastic activity, and fracture risk in AD-HIES. 19–21 Another new finding is that STAT3 is also involved in the regulation of matrix metalloproteinases (MMP) and plasma levels of MMP8 and MMP9 are elevated, while MMP3 is lower in patients with AD-HIES and may be responsible for impaired tissue remodeling. 22 …”

Section: Hyper-ige Syndromesmentioning

confidence: 99%

Primary immunodeficiency update

Pichard

Freeman

Cowen

2015

Journal of the American Academy of Dermatology

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In the past decade, the availability of powerful molecular techniques has accelerated the pace of discovery of several new primary immunodeficiencies (PID) and revealed the biologic basis of other established PID. These genetic advances, in turn, have facilitated more precise phenotyping of associated skin and systemic manifestations and provide a unique opportunity to better understand the complex human immunologic response. These continuing medical education articles will provide an update of recent advances about PID that may be encountered by dermatologists through their association with eczematous dermatitis, infectious, and non-infectious cutaneous manifestations. Part I will discuss new primary immunodeficiencies that have an eczematous dermatitis. Part II will focus on primary immunodeficiencies that greatly increase susceptibility to fungal infection and the noninfectious presentations of PID.

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Orthognathic Surgical Treatment in a Patient With Hyperimmunoglobulin E Syndrome

Dibbs

Raghuram²,

Roy³

et al. 2020

Journal of Craniofacial Surgery

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Autosomal-dominant hyperimmunoglobulin E syndrome (HIES), or Job syndrome, is a rare, multisystem, primary immunodeficiency disorder. Additionally, patients may also suffer from connective tissue, dental, and bone malformations. While current management of HIES is directed at prophylactic antibiotics to prevent infections, there is limited work describing surgical considerations for these patients, particularly with respect to hardware placement. Here we report a case of a patient with HIES who underwent orthognathic surgery for maxillary advancement and mandibular setback to address his severe class III malocclusion. The patient's postoperative course was complicated by significant infection, requiring multiple operations and ultimately, hardware removal after bone healing. Although this patient ultimately had a good outcome, the role of orthognathic surgery with implant placement in patients with HIES should be approached with caution and careful consideration.

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Spinal deformity caused by hyperimmunoglobulin E syndrome

Cited by 3 publications

References 14 publications

A targeted antibody-based array reveals a serum protein signature as biomarker for adolescent idiopathic scoliosis patients

A targeted antibody-based array reveals a serum protein signature as biomarker for adolescent idiopathic scoliosis patients

Primary immunodeficiency update

Orthognathic Surgical Treatment in a Patient With Hyperimmunoglobulin E Syndrome

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