Recurrent inflammatory aortic aneurysms in chronic mucocutaneous candidiasis with a gain-of-function STAT1 mutation

Tanimura, Muneyoshi; Dohi, Kaoru; Hirayama, Masahiro; Sato, Yuichi; Sugiura, Emiyo; Nakajima, Hiroshi; Kanemitsu, Shinji; Toyoda, Hidemi; Yamada, Norikazu; Masuya, Masahiro; Imanaka‐Yoshida, Kyoko; Shimpo, Hideto; Azuma, Eiichi; M, Ito

doi:10.1016/j.ijcard.2015.05.183

Cited by 17 publications

(11 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Hypothyroidism, IBD, and thrombocytopenia are common autoimmune features of STAT1 GOF mutations 3 . A few large vessel aneurysm cases with STAT1 GOF mutations have been reported 3,8 ; however, to our knowledge, this is the first case reporting TA as a complication. Although TA onset in this patient could be coincidental and independent of STAT1 GOF mutation, the STAT1 signaling pathway activation can amplify the cellular responses to type I and II interferons in patients harboring a STAT1 GOF mutation 9 .…”

mentioning

confidence: 73%

An Adult Fatal Case with a STAT1 Gain-of-function Mutation Associated with Multiple Autoimmune Diseases

Maeshima¹,

Ishii²,

Shibata

2018

J Rheumatol

View full text Add to dashboard Cite

mentioning

confidence: 73%

An Adult Fatal Case with a STAT1 Gain-of-function Mutation Associated with Multiple Autoimmune Diseases

Maeshima¹,

Ishii²,

Shibata

2018

J Rheumatol

View full text Add to dashboard Cite

“…59 Inflammatory symptomatic cerebral and extracerebral aneurysms and aortic calcification have been detected at a higher rate than in the general population and at a younger age (23 vs 50 years) in patients with STAT1 GOF mutation syndrome than in those without such mutation. 80,81 Cumulative survival rate was significantly lower in patients who developed invasive infections, cancer, and/or symptomatic aneurysms. 77 In patients with HIES, facial abnormalities, retention of the primary teeth, skeletal abnormalities such as osteopenia resulting in multiple fractures for minor traumas and scoliosis, joint hyperextensibility, various vascular malformations, and chronic severe eczema have been described.…”

Section: Common Clinical Hallmarks Of the Innate And Intrinsic Immunity Defects Group Of Crds During Transitionmentioning

confidence: 99%

Consensus of the Italian Primary Immunodeficiency Network on transition management from pediatric to adult care in patients affected with childhood-onset inborn errors of immunity

Cirillo

Giardino

Ricci

et al. 2020

Journal of Allergy and Clinical Immunology

View full text Add to dashboard Cite

“…Clinical manifestations in patients with STAT1 mutation, in addition to immunodeficiency includes inflammatory and autoimmune phenomena such as hypothyroidism (22%), type 1 diabetes (4%), blood cytopenia (4%), and SLE (2%) [21, 22]. Rarely, patients can have cerebral vasculitis and multiple aneurysms leading to stroke [23]. Aortic calcifications and aneurism were also reported [24].…”

Section: Discussionmentioning

confidence: 99%

Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies

et al. 2019

View full text Add to dashboard Cite

Background Systemic lupus erythematosus (SLE) comprise a diverse range of clinical manifestations. To date, more than 30 single gene causes of lupus/lupus like syndromes in humans have been identified. In the clinical setting, identifying the underlying molecular diagnosis is challenging due to phenotypic and genetic heterogeneity. Methods We employed whole exome sequencing (WES) in patients presenting with childhood-onset lupus with severe and/or atypical presentations to identify cases that are explained by a single-gene (monogenic) cause. Results From January 2015 to June 2018 15 new cases of childhood-onset SLE were diagnosed in Edmond and Lily Safra Children’s Hospital. By WES we identified causative mutations in four subjects in five different genes: C1QC , SLC7A7 , MAN2B1 , PTEN and STAT1 . No molecular diagnoses were established on clinical grounds prior to genetic testing. Conclusions We identified a significant fraction of monogenic SLE etiologies using WES and confirm the genetic locus heterogeneity in childhood-onset lupus. These results highlight the importance of establishing a genetic diagnosis for children with severe or atypical lupus by providing accurate and early etiology-based diagnoses and improving subsequent clinical management.

show abstract

Recurrent inflammatory aortic aneurysms in chronic mucocutaneous candidiasis with a gain-of-function STAT1 mutation

Cited by 17 publications

References 9 publications

An Adult Fatal Case with a STAT1 Gain-of-function Mutation Associated with Multiple Autoimmune Diseases

An Adult Fatal Case with a STAT1 Gain-of-function Mutation Associated with Multiple Autoimmune Diseases

Consensus of the Italian Primary Immunodeficiency Network on transition management from pediatric to adult care in patients affected with childhood-onset inborn errors of immunity

Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies

Contact Info

Product

Resources

About