What is the clinical evidence from this study?

Study design: Case Report. Population: Polymorphic autoinflammatory immunodeficiency (n=6). Intervention: Heterozygous OAS1 gain-of-function variants. Primary outcome: dsRNA-independent activity resulting in RNase L-mediated RNA cleavage, transcriptomic alteration, translational arrest, and apoptosis of immune cells.

What does this research mean for the field?

Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency through dsRNA-independent RNase L-mediated RNA cleavage, translational arrest, and apoptosis of monocytes, macrophages, and B cells. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

June 15, 2021Science ImmunologyOpen Access

Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency

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Key result

OAS1 gain-of-function variants drive autoinflammatory immunodeficiency via RNase L-mediated immune cell apoptosis.

Population

Six patients with a polymorphic autoinflammatory immunodeficiency

Authors

TMThomas MaggLudwig-Maximilians-Universität München TOTsubasa OkanoInstitute of Science Tokyo LKLars M. KoenigLMU Klinikum

Discussion

Member takes

Implication

May support RNase L inhibition or allogeneic HCT in OAS1 gain-of-function autoinflammation; leaves open broader validation beyond this case.

Study Design

Type

Case Report (n=6)

Structured PICO

Population

6 patients with a polymorphic autoinflammatory immunodeficiency characterized by recurrent fever, dermatitis, inflammatory bowel disease, pulmonary alveolar proteinosis, and hypogammaglobulinemia.

Exposure

RNase L inhibition with curcumin and allogeneic hematopoietic cell transplantation

Outcome

Causality of OAS1 variants in causing autoinflammatory immunodeficiency and cellular dysfunction

Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency that can be modulated by RNase L inhibition and cured by allogeneic hematopoietic cell transplantation.

Cite This Study

Magg et al. (2021) conducted a case report in Polymorphic autoinflammatory immunodeficiency (n=6). Heterozygous OAS1 gain-of-function variants was evaluated on dsRNA-independent activity resulting in RNase L-mediated RNA cleavage, transcriptomic alteration, translational arrest, and apoptosis of immune cells. Heterozygous OAS1 gain-of-function variants caused an autoinflammatory immunodeficiency via dsRNA-independent RNase L-mediated RNA cleavage and apoptosis of monocytes, macrophages, and B cells.

synapsesocial.com/papers/6aa628a26b1ae6e96478f9fd https://doi.org/10.1126/sciimmunol.abf9564

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Implication

May support RNase L inhibition or allogeneic HCT in OAS1 gain-of-function autoinflammation; leaves open broader validation beyond this case.

Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency

Discussion

Member takes

Implication

Study Design

Structured PICO

Cite This Study

Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency

Discussion

Member takes

Implication

Study Design

Structured PICO

Cite This Study

Also Consider

Also Consider