Associated Papers
Comprehensive genetic variant analysis reveals combination of KRAS and LRP1B as a predictive biomarker of response to immunotherapy in patients with non-small cell lung cancer.
Eklund EA et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2025
40011914 (PubMed )
Supplement: 13046_2025_3342_MOESM6_ESM.xlsx › VUS_
Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor 𝛋B kinase alpha (IKKα).
Bainter W et al.
Science Immunology, 2021
Child Neurology: Siblings with infantile epilepsy and developmental delay: A circuitous path to genomic diagnosis.
Liu Y et al.
Neurology, 2018
IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation.
Moriya K et al.
Journal of Clinical Immunology, 2018
The Child with Recurrent Mycobacterial Disease.
Reed B et al.
Current Allergy and Asthma Reports, 2018
Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.
Petersheim D et al.
The Journal of Allergy and Clinical Immunology, 2018
Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA.
Staples E et al.
Journal of Clinical Immunology, 2017
Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA.
Lee AJ et al.
Journal of Clinical Immunology, 2016
Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling.
Paciolla M et al.
Genes and Immunity, 2015
IKK-related genetic diseases: probing NF-κB functions in humans and other matters.
Senegas A et al.
Cellular and Molecular Life Sciences : Cmls, 2015
Defective lymphoid organogenesis underlies the immune deficiency caused by a heterozygous S32I mutation in IκBα.
Mooster JL et al.
The Journal of Experimental Medicine, 2015
Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation.
Yoshioka T et al.
Journal of Clinical Immunology, 2013
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