4.4 Article

Novel XIAP mutation with early-onset Crohn's disease complicated with acute heart failure: a case report

Related references

Note: Only part of the references are listed.
Article Allergy

Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency

Linlin Yang et al.

Summary: This study aimed to characterize the phenotype, treatment, and survival outcomes of XIAP deficiency and evaluate parameters influencing prognosis. The results demonstrated the variable nature of XIAP deficiency with a wide spectrum of clinical features. Treatment options included conservative management and hematopoietic stem-cell transplantation (HSCT) with respective overall survival probabilities of 90% and 53% at age 16 years. The HSCT outcomes improved after 2015. The study highlighted the importance of better therapeutic strategies and prospective studies for improving outcomes in patients with XIAP deficiency.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2022)

Review Cardiac & Cardiovascular Systems

Role of genetic testing in cardiomyopathies: A primer for cardiologists

Georgia Vogiatzi et al.

Summary: Recent advances in cardiovascular genetics have made genetic testing an important part of managing families with inherited cardiomyopathies. Understanding when to consider genetic testing is crucial in these cases. Genetic testing plays a key role in risk stratification of family members, prognosis of higher risk cases, and identification of new mutations.

WORLD JOURNAL OF CARDIOLOGY (2022)

Review Cardiac & Cardiovascular Systems

Emerging Genotype-Phenotype Associations in Dilated Cardiomyopathy

Joyce N. Njoroge et al.

Summary: This review highlights the importance of understanding genotype-phenotype relationships in inherited dilated cardiomyopathy (DCM) for improving patient care. Recent findings have led to the discovery of novel DCM-associated genes, gene-specific outcomes, and variant-environment interactions. These advances provide valuable insights in assessing the risk of sudden cardiac death and guiding counseling around behavioral and environmental exposures. Future research directions should focus on identifying new genes and investigating the interaction of known and novel variants with patient genetic background and environment.

CURRENT CARDIOLOGY REPORTS (2022)

Article Allergy

Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency

Linlin Yang et al.

Summary: XIAP deficiency presents with a wide spectrum of clinical features, with no clear genotype-phenotype correlation. Conservative management and hematopoietic stem-cell transplantation (HSCT) have different overall survival probabilities, with potential factors like HLH and myeloablative conditioning regimens impacting outcomes.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE (2022)

Article Medicine, General & Internal

Heart failure as an adverse effect of infliximab for Crohn's disease: A case report and review of the literature

Thais Gagno Grillo et al.

World Journal of Clinical Cases (2021)

Article Allergy

Hematopoietic Cell Transplantation Rescues Inflammatory Bowel Disease and Dysbiosis of Gut Microbiota in XIAP Deficiency

Shintaro Ono et al.

Summary: The study showed a favorable outcome of HCT for XIAP deficiency, rescuing gut inflammation and dysbiosis in these patients.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE (2021)

Review Pediatrics

Evolution of Our Understanding of XIAP Deficiency

Anne C. A. Mudde et al.

Summary: X-linked inhibitor of apoptosis (XIAP) deficiency is a rare inborn error of immunity characterised by immune dysregulation and various clinical manifestations. Advances have been made in understanding the disease, with over 90 disease causing mutations identified and improved outcomes of allogeneic haematopoietic stem cell transplantation (HSCT) following reduced intensity conditioning (RIC). The pathophysiology of XIAP deficiency involves modulation of tumour necrosis factor (TNF)-receptor signalling and regulation of NLRP3 inflammasome activity.

FRONTIERS IN PEDIATRICS (2021)

Editorial Material Gastroenterology & Hepatology

The Key to a Boy's Heart Is Through His Intestine

Amir Jazayeri et al.

GASTROENTEROLOGY (2020)

Article Medicine, Research & Experimental

LncRNA KCNQ1OT1 attenuates sepsis-induced myocardial injury via regulating miR-192-5p/XIAP axis

Fangyuan Sun et al.

EXPERIMENTAL BIOLOGY AND MEDICINE (2020)

Letter Gastroenterology & Hepatology

De novo Anti-TNF-α-induced Congestive Heart Failure in a Patient With Turner Syndrome and Crohn's Disease

Eoin Keating et al.

INFLAMMATORY BOWEL DISEASES (2020)

Article Cardiac & Cardiovascular Systems

Unraveling the Molecular Mechanism of Action of Empagliflozin in Heart Failure With Reduced Ejection Fraction With or Without Diabetes

Oriol Iborra-Egea et al.

JACC-BASIC TO TRANSLATIONAL SCIENCE (2019)

Review Cardiac & Cardiovascular Systems

Thiamine and Cardiovascular Disease: A Literature Review

James J. DiNicolantonio et al.

PROGRESS IN CARDIOVASCULAR DISEASES (2018)

Article Gastroenterology & Hepatology

Wernicke's encephalopathy after total parenteral nutrition in patients with Crohn's disease

In Seub Shin et al.

INTESTINAL RESEARCH (2016)

Review Cell Biology

XIAP deficiency syndrome in humans

Sylvain Latour et al.

SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2015)

Article Nursing

High-Output Heart Failure Caused by Thyrotoxicosis and Beriberi

Brenda McCulloch

CRITICAL CARE NURSING CLINICS OF NORTH AMERICA (2015)

Article Biochemistry & Molecular Biology

Thiamin Function, Metabolism, Uptake, and Transport

Sergio Manzetti et al.

BIOCHEMISTRY (2014)

Article Medicine, Research & Experimental

Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling

Rune Busk Damgaard et al.

EMBO MOLECULAR MEDICINE (2013)

Review Immunology

Cardiovascular safety of anti-TNF-alpha therapies: Facts and unsettled issues

Fabio Cacciapaglia et al.

AUTOIMMUNITY REVIEWS (2011)

Review Hematology

X-linked lymphoproliferative syndromes: brothers or distant cousins?

Alexandra H. Filipovich et al.

BLOOD (2010)

Article Cardiac & Cardiovascular Systems

Concurrent upregulation of endogenous proapoptotic and antiapoptotic factors in failing human hearts

Nezam Haider et al.

NATURE CLINICAL PRACTICE CARDIOVASCULAR MEDICINE (2009)

Review Pharmacology & Pharmacy

Anti-tumour necrosis factor-α therapy in heart failure:: Future directions

Pitchai Balakumar et al.

BASIC & CLINICAL PHARMACOLOGY & TOXICOLOGY (2006)

Article Multidisciplinary Sciences

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

Stephaine Rigaud et al.

NATURE (2006)