Janet Markle

11PUBLICATIONS

100CO-AUTHORS

Photonics, optoelectronics and optical communicationsAutoimmunityMedical infection agents (incl. prions)Immunogenetics (incl. genetic immunology)Medical biochemistry - proteins and peptides (incl. medical proteomics)

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Publications (11)

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|Jun 15, 2026

Pyoderma gangrenosum caused by the molecular uncoupling of OTULIN catalytic activity and LUBAC binding.

|Apr 20, 2026

Autoinflammatory disease and severe neutropenia due to <i>de novo</i> variant of PSTPIP1 with increased binding to pyrin.

|Feb 12, 2026

Primary Amoebic Meningoencephalitis caused by Complement C2 Deficiency.

Jian Cui, Colleen M Roark, Nerea Domínguez-Pinilla

|Aug 16, 2024

Functional overlap of inborn errors of immunity and metabolism genes defines T cell metabolic vulnerabilities.

Andrew R Patterson, Gabriel A Needle, Ayaka Sugiura

|May 27, 2024

Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.

Xin Zhen, Michael J Betti, Meltem Ece Kars

|Feb 14, 2024

Expanding the molecular and phenotypic spectrum of CTLA-4 insufficiency.

Sean Duke, James Maiarana, Pariya Yousefi

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Frequent Collaborators

Andrew R Patterson

Jeffrey C Rathmell

Bertrand Boisson

Lluis Quintana-Murci

Noé Ramírez-Alejo

Frédéric Geissmann

Laurent Abel

Tomi Lazarov

Etienne Patin

Gaspard Kerner

Frequent Collaborators

Andrew R Patterson

Jeffrey C Rathmell

Bertrand Boisson

Lluis Quintana-Murci