Janet Markle

12PUBLICATIONS
139CO-AUTHORS
Medical mycologyPhotonics, optoelectronics and optical communicationsAutoimmunityMedical infection agents (incl. prions)Immunogenetics (incl. genetic immunology)
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Publications (12)

|Sep 04, 2026
Human inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity.

|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 de novo 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

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Frequent Collaborators

3 joint publications

Cindy S Ma

3 joint publications

Jeffrey C Rathmell

3 joint publications

Stéphanie Boisson-Dupuis

3 joint publications

Anne Puel