ArticleJournal of clinical immunology2025
Amyloidosis in Human Inborn Errors of Immunity Predicts Poor Prognosis.
Article in Journal of clinical immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- Description of a Large Family with Periodic Fever Carrying a Variant inInternational journal of molecular sciences · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeChronic inflammation in inborn errors of immunity(IEI) caused by the infections or immune dysregulation is associated with the amyloid A (AA) amyloidosis development. This study aims to analyze the clinical characteristics, management strategies, and outcomes of patients with IEI complicated by AA amyloidosis, focusing on demographics, disease manifestations, treatment modalities, and survival rates.
methodsThirteen patients diagnosed with IEI and AA amyloidosis, along with an additional 10 patients previously reported from Türkiye, were reviewed retrospectively.
resultsThe median ages at diagnosis of IEI and amyloidosis were 20 years (2-61) and 25 years (7-70), respectively. Renal (74%) and gastrointestinal involvement (44%) were the most common, followed by skin(9%), pulmonary (9%), and cardiac involvement (9%). Primary antibody deficiencies(48%), combined immunodeficiencies(31%), hyperimmunoglobulin E syndrome(9%), congenital neutropenia (4%), autoinflammatory disorders (4%), and chronic mucocutaneous candidiasis (4%) were the IEI types associated with amyloidosis. Bronchiectasis (74%) and malignancy (17%) were observed in given ratio of patients. Treatment modalities for amyloidosis include colchicine (n = 12, 52%), steroids (n = 5, 22%) and tocilizumab (n = 2, 9%) without significant benefit. Thirteen patients (57%) died with a median age of 24 years (8-45), predominantly due to sepsis (52%). Familial Mediterranean fever (FMF) gene analysis was negative in all patients except for one, who had a heterozygous MEFV gene defect (M694V).
conclusionAA amyloidosis in IEI is associated with severe morbidity and mortality. Early diagnosis and management of IEI are crucial to prevent amyloidosis development. However, colchicine appears ineffective once amyloidosis has occurred, highlighting the need for further research into early diagnostic biomarkers and novel treatment options.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.