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Journal Articles

Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity

In Special Collection:

Autoimmunity: From Novel Mechanisms to Treatments

J Exp Med (2023) 220 (9): e20212276.

https://doi.org/10.1084/jem.20212276

Published: 05 June 2023

View article titled, Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity

Includes: Supplementary data

Journal Articles

Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2

J Exp Med (2023) 220 (6): e20221020.

https://doi.org/10.1084/jem.20221020

Published: 21 March 2023

View article titled, Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2

Includes: Supplementary data

Journal Articles

Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia

In Special Collection:

Cytokines Collection 2022

J Exp Med (2022) 219 (8): e20220131.

https://doi.org/10.1084/jem.20220131

Published: 16 June 2022

View article titled, Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia

Journal Articles

Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency

J Exp Med (2021) 218 (11): e20210566.

https://doi.org/10.1084/jem.20210566

Published: 02 September 2021

View article titled, Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency

Includes: Supplementary data

Journal Articles

Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

J Exp Med (2021) 218 (8): e20202592.

https://doi.org/10.1084/jem.20202592

Published: 17 June 2021

View article titled, Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

Includes: Supplementary data

Journal Articles

Gain-of-function IKBKB mutation causes human combined immune deficiency

In Special Collection:

Inborn Errors of Immunity 2019

J Exp Med (2018) 215 (11): 2715–2724.

https://doi.org/10.1084/jem.20180639

Published: 18 October 2018

View article titled, Gain-of-function IKBKB mutation causes human combined immune deficiency

Includes: Supplementary data

NARROW

Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity

Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2

Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia

Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency

Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

Gain-of-function IKBKB mutation causes human combined immune deficiency

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Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity

Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2

Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia

Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency

Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

Gain-of-function IKBKB mutation causes human combined immune deficiency

Email alerts

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