M. Aranda-Guillén

发表

A gene-centric approach to biomarker discovery identifies transglutaminase 1 as an epidermal autoantigen

O. Mäkitie, F. Pontén, I. Korponay-Szabó, 2021, Proceedings of the National Academy of Sciences.

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

J. Derisi, F. Rieux-Laucat, J. Fellay, 2023, Nature.

GWAS for autoimmune Addison’s disease identifies multiple risk loci and highlights AIRE in disease susceptibility

Lars Peter Jensen, P. Dahlqvist, T. Olsson, 2021, Nature Communications.

Genetic and immunologic evaluation of children with inborn errors of immunity and severe or critical COVID-19

J. Casanova, Likun Du, Q. Pan-Hammarström, 2022, Journal of Allergy and Clinical Immunology.

X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia

J. Casanova, Likun Du, Q. Pan-Hammarström, 2021, Journal of Clinical Immunology.

Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome

J. Casanova, Likun Du, Q. Pan-Hammarström, 2022, Journal of Clinical Immunology.

Severe COVID-19 in an APS1 patient with interferon autoantibodies treated with plasmapheresis

K. Blennow, C. Wennerås, H. Zetterberg, 2021, Journal of Allergy and Clinical Immunology.

Rare copy number variation in autoimmune Addison’s disease

E. C. Røyrvik, E. Husebye, Marc Vaudel, 2024, Frontiers in immunology.

Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease.

K. Lindblad-Toh, L. Rönnblom, S. Rantapää-Dahlqvist, 2023, European journal of endocrinology.

A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies

A. Lindstrand, S. Johansson, E. C. Røyrvik, 2023, Journal of internal medicine.

GENETIC RISK FACTORS IN AUTOIMMUNE ADDISON'S DISEASE

T. Tuomi, E. Husebye, S. Bensing, 2022 .