ALPK1 Gene Mutations Drive Autoinflammation with Ectodermal Dysplasia and Progressive Vision Loss

Jamilloux, Yvan; Mathis, Thibaud; Grunewald, Olivier; Dollfuss, Hélène; Henry, Thomas; Sève, P.; Meunier, Isabelle

doi:10.1007/s10875-021-01087-3

Cited by 7 publications

(4 citation statements)

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“…ROSAH syndrome is currently a rare disease, with only 47 cases reported worldwide (11)(12)(13). We can see that most cases are carrying the p.Thr237Met mutation in the ALPK1 gene, but there is also one case carrying the p.Tyr254Cys mutation.…”

Section: Discussionmentioning

confidence: 86%

“…With regard to its clinical presentation, previous cases describing ROSAH families have focused on the ophthalmic manifestations of the disease. However, there is now growing evidence that ROSAH syndrome is mostly an auto-inflammatory disease (11,13,14), with almost all patients exhibiting at least one inflammatory feature, including recurrent fever. Many of these patients present with a non-infectious low-grade fever that persists for less than 24 hours before spontaneously resolving.…”

Section: Discussionmentioning

confidence: 99%

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A Rare Gene Mutation Disorder With Fever To Be Detected

Li,

Liu,

et al. 2023

Preprint

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ROSAH syndrome(1) is an autosomal dominant disorder caused by mutations in ALPK1. Its clinical manifestations are mainly retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis and migraine. In this article, we aim to provide detailed information that will help further our understanding of the different symptoms and manifestations of ROSAH syndrome. It also emphasizes the importance of considering this disease in similar cases of fever of unknown etiology, such as recurrent periodic fever with splenomegaly and ocular disease.

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Section: Discussionmentioning

confidence: 86%

Section: Discussionmentioning

confidence: 99%

A Rare Gene Mutation Disorder With Fever To Be Detected

Li,

Liu,

et al. 2023

Preprint

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“…Initial ophthalmological signs, associated therapeutic sequences, and response have been added to Table 1. 6 Zhong et al presented two unrelated ROSAH patients, showing increased plasma TNFalpha levels. One patient was treated with adalimumab, but visual acuity deteriorated.…”

Section: Discussionmentioning

confidence: 99%

“…Jamilloux et al described a ROSAH family corresponding to the first family currently described in this paper. Initial ophthalmological signs, associated therapeutic sequences, and response have been added to Table 1 6 …”

Section: Discussionmentioning

confidence: 99%

ROSAH syndrome mimicking chronic uveitis

et al. 2022

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To suggest a unique missense variant candidate based on long-term ophthalmological changes and associated systemic signs described in five patients from two unrelated families affected by an autosomal dominant multi-systemic disorder including Retinal dystrophy, Optic nerve oedema, Splenomegaly, Anhidrosis and migraine Headaches, called ROSAH syndrome, related to a unique missense variant in ALPK1 gene.Observational longitudinal follow-up study of unrelated families. Clinical analysis of ophthalmological and systemic examinations was performed, followed by genetic analysis, including targeted Next Generation Sequencing (NGS) and Whole-Genome Sequencing (WGS). The ophthalmological phenotype showed extensive optic nerve swelling associated with early macular oedema and vascular leakage. The main associated systemic manifestations were recurrent fever, splenomegaly, anhidrosis, mild cytopenia, anicocytosis and hypersegmented polynuclear cells. WGS, shortened in the second family by the gene candidate suggestion, revealed in all patients the heterozygous missense variant c.710C>T; p.(Thr237Met) in ALPK1. The primary morbidity in ROSAH syndrome in this cohort appeared ophthalmological. Comprehensive, detailed phenotype changes aided by the advancement in genetic testing could allow an early genetic diagnosis of ROSAH syndrome and targeted treatment. The unique missense variant may be suggested as a target of gene correction therapy.

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