The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis

Poskanzer, Sheri A.; Thies, Jenny; Collins, Christopher; Myers, Candace T.; Dayuha, Remwilyn; Duong, Phi; Chang, Irene J.; Ochs, Hans D.; Torgerson, Troy R.; Hahn, Si Houn

doi:10.1002/mgg3.1172

Cited by 3 publications

(2 citation statements)

References 23 publications

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“…[92] Lastly, concurrent rare diseases such as Wilson disease and hepatic veno occlusive disease (hVOD), causing liver failure requiring transplant, have also been observed. [93,94]…”

Section: Common Variable Immunodeficiencymentioning

confidence: 99%

“…Liver transplant for end-stage liver disease from different etiologies such as CVID, XLA, PI3K disease, CD40L deficiency, and DOCK8 deficiency has been reported in these patients, with varied outcomes. [51][52][53]54,93,94,150,151] Liver transplant is performed usually before HSCT, with variable outcomes, but there are some case reports of post-HSCT liver transplantation. GVHD and serious infections from further depression of the immune system following transplantation are also seen.…”

Section: Immunodeficiency Centromeric Region Instability Facial Anoma...mentioning

confidence: 99%

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Tip of the iceberg: A comprehensive review of liver disease in Inborn errors of immunity

et al. 2022

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Inborn errors of immunity (IEIs) consist of numerous rare, inherited defects of the immune system that affect about 500,000 people in the United States.As advancements in diagnosis through genetic testing and treatment with targeted immunotherapy and bone marrow transplant emerge, increasing numbers of patients survive into adulthood posing fresh clinical challenges.A large spectrum of hepatobiliary diseases now present in those with immunodeficiency diseases, leading to morbidity and mortality in this population. Awareness of these hepatobiliary diseases has lagged the improved management of the underlying disorders, leading to missed opportunities to improve clinical outcomes. This review article provides a detailed description of specific liver diseases occurring in various inborn errors of immunity.A generalized approach to diagnosis and management of hepatic complications is provided, and collaboration with hepatologists, immunologists, and pathologists is emphasized as a requirement for optimizing management and outcomes.

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“…[92] Lastly, concurrent rare diseases such as Wilson disease and hepatic veno occlusive disease (hVOD), causing liver failure requiring transplant, have also been observed. [93,94]…”

Section: Common Variable Immunodeficiencymentioning

confidence: 99%

Section: Immunodeficiency Centromeric Region Instability Facial Anoma...mentioning

confidence: 99%

Tip of the iceberg: A comprehensive review of liver disease in Inborn errors of immunity

et al. 2022

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The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis

Poskanzer

Thies

Collins³

et al. 2020

Molec Gen & Gen Med

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Background We report the first case of a family with co‐occurrence of Wilson disease (WD), an autosomal recessive disorder of copper metabolism, and X‐linked agammaglobulinemia (XLA), a primary immunodeficiency disorder (PIDD) that features marked reduction in circulating B lymphocytes and serum immunoglobulins. Methods and Results Through utilization of a multiplexed biomarker peptide quantification method known as the immuno‐SRM assay, we were able to simultaneously and independently identify which family members are affected with WD and which are affected with XLA using dried blood spots (DBS). Conclusion Being able to delineate multiple diagnoses using proteolytic analysis from a single DBS provides support for implementation of this methodology for clinical diagnostic use as well as large‐scale population screening, such as newborn screening (NBS). This could allow for early identification and treatment of affected individuals with WD or XLA, which have been shown to reduce morbidity and decrease mortality in these two populations.

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Wilson disease

Aggarwal

Bhatt

2020

Current Opinion in Neurology

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Purpose of review The aim of this article is to review recent developments in the areas of the disease features and treatment of Wilson disease, and survey disorders that share its pathophysiology or clinical symptoms. Recent findings Knowledge of the clinical spectrum of Wilson disease has expanded with recognition of patients who present in atypical age groups – patients with very early onset (<5 years) and those in whom symptoms present in mid-to-late adulthood. A disease phenotype with dominant psychiatric features and increased risk of cardiac problems and various sleep disorders have been identified. In addition to a better understanding of the phenotype of Wilson disease itself, features of some related disorders (‘Wilson disease-mimics’) have been described leading to a better understanding of copper homeostasis in humans. These disorders include diseases of copper disposition, such as mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratoderma syndrome, Niemann–Pick type C, and certain congenital disorders of glycosylation, as well as analogous disorders of iron and manganese metabolism. Outcomes for existing treatments, including in certain patient subpopulations of interest, are better known. Novel treatment strategies being studied include testing of bis-choline tetrathiomolybdate in phase 2 clinical trial as well as various preclinical explorations of new copper chelators and ways to restore ATP7B function or repair the causative gene. Summary Recent studies have expanded the phenotype of Wilson disease, identified rare inherited metal-related disorders that resemble Wilson disease, and studied long-term outcomes of existing treatments. These developments can be expected to have an immediate as well as a long-term impact on the clinical management of the disease, and point to promising avenues for future research.

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The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis

Cited by 3 publications

References 23 publications

Tip of the iceberg: A comprehensive review of liver disease in Inborn errors of immunity

Tip of the iceberg: A comprehensive review of liver disease in Inborn errors of immunity

The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis

Wilson disease

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