The expanding pathways of autoinflammation: a lesson from the first 100 genes related to autoinflammatory manifestations

R Papa, P Picco, M Gattorno - … in Protein Chemistry and Structural Biology, 2020 - Elsevier
Abstract AutoInflammatory Diseases (AIDs) are a group of innate immune system disorders
characterized by sterile inflammation without evidence of pathogenic autoantibodies or auto …

Interstitial lung disease in autoinflammatory disease in childhood: a systematic review of the literature

H Nayir Buyuksahin, O Basaran, Z Balık… - Pediatric …, 2023 - Wiley Online Library
Abstract Background/Objectives The lung is one of the target organs in the systemic
involvement of autoinflammatory disease (AID), and interstitial lung disease (ILD) is the …

Atteinte pulmonaire dans les maladies auto-inflammatoires

ML Frémond, L Berteloot, A Hadchouel - Revue des Maladies Respiratoires, 2023 - Elsevier
Résumé Les maladies auto-inflammatoires génétiques sont désormais un groupe de
maladies reconnu et en pleine expansion. L'atteinte pulmonaire historiquement associée …

Case report: mevalonic aciduria complicated by acute myeloid leukemia after hematopoietic stem cell transplantation

H Kim, BH Lee, HS Do, GH Kim, S Kang… - Frontiers in …, 2021 - frontiersin.org
Mevalonic aciduria (MA) is the most severe clinical subtype of mevalonate kinase deficiency
(MKD) caused by an inherited defect in the mevalonate pathway. The treatment of MKD …

Haploidentical α/β T-cell and B-cell depleted stem cell transplantation in severe mevalonate kinase deficiency

M Faraci, S Giardino, M Podesta, F Pierri… - …, 2021 - academic.oup.com
Objective Mevalonic aciduria represents the most severe form of mevalonate kinase
deficiency (MKD). Patients with mevalonic aciduria have an incomplete response even to …

Overview of the rarest causes of fever in newborns: handy hints for the neonatologist

DU De Rose, M Coppola, F Gallini, L Maggio… - Journal of …, 2021 - nature.com
Neonatal causes of fever are a major source of concern for clinicians. If fever is combined
with organ-specific sterile inflammatory manifestations the suspicion of autoinflammatory …

Partnerships in the comprehensive management of multisystem inflammatory syndrome in neonates (MIS-N): translating 2 years of pediatric practice to the neonatal …

D Buonsenso - American Journal of Perinatology, 2023 - thieme-connect.com
Increase in the occurrence of multisystem inflammatory syndrome in neonates (MIS-N) has
been reported within the last few months, 1–17 including a recent case report describing a …

[PDF][PDF] Mevalonic Aciduria in a Pediatric Patient: A Case Report and Literature Review of Neuroimaging Findings

MA Esmeraldo, IR Prates, LT Lucato, AAB Junior… - Cureus, 2024 - cureus.com
Mevalonic aciduria is a rare autosomal recessive disorder resulting from mevalonate kinase
deficiency. Neuroimaging findings associated with the disease have been documented in …

[HTML][HTML] Immunodeficiency-Like phenotype, recurrent pulmonary manifestations, and persistent polyarthritis: mevalonate kinase deficiency successfully treated with …

M Cakan, NA Ayaz, E Funda… - Archives of …, 2020 - ncbi.nlm.nih.gov
Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory disorder
characterized by fever starting in early infancy, lasting for three to seven days, recurring …

Синдром SAVI: обзор литературы и семейный случай в практике ревматолога и пульмонолога

СО Салугина, ЕС Федоров, НС Лев… - … . Журнал им. ГН …, 2021 - elibrary.ru
SAVI-синдром-STING-ассоциированная васкулопатия с ранним началом-редкое
моногенное аутосомно-доминантное аутовоспалительное заболевание, связанное с …