LMU molecular biologist Dr. Jonathan Bohlen has received the Life Sciences Bridge Award from the Aventis Foundation.

Fagniez et al. identify new patients with inherited RORγT deficiency characterized by impaired TCRα rearrangement, depletion of MAIT and iNKT cells, reduce

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In this work, we identify a new type I IFN–dependent psoriasis subtype resulting from rare heterozygous variants in ADAR1 and associated with a specific re

Neutralizing autoantibodies against interleukin-10 can result in a phenocopy of monogenic defects of interleukin-10 signaling in children and may be associated with inflammatory bowel disease (IBD)...

We’ve documented more than 100 instances of apparent data manipulation in Thermo’s catalog

Die Daimler und Benz Stiftung gibt Impulse – heute für Morgen. Über Ländergrenzen hinweg fördert sie interdisziplinäre Forschungsprojekte.

Three studies in this issue of JHI extend our understanding of the genetic, molecular, and clinical characteristics of human disease associated with a gain

X-linked MCTS1 deficiency causes susceptibility to mycobacterial disease. Four new patients carried three previously undescribed truncating or loss-of-expr

Astrophysikerin Jiamin Hou und Molekularbiologe Jonathan Bohlen erhalten Förderungen aus dem Emmy Noether-Programm der DFG.

Bohlen and colleagues report that the E3 ubiquitin ligase CBL is necessary for the development, tolerance and activation of B cells in humans, unlike in mice where CBL deficiency results in loss of T ...

LMU researchers uncover the mechanism by which ribosomes raise alarms in the cell.

We report two patients with Whipple’s disease caused by autosomal dominant IRF4 deficiency.

Journal of Human Immunity (JHI) publishes papers that provide novel insights into the physiology and pathology of human immunity through the study of genetic defects and their phenocopies, including t...

Background Despite sustained exposure to Mycobacterium tuberculosis (Mtb), some individuals—so-called resisters—have persistently negative results for the tuberculin skin test (TST) and interferon-gam...

Incomplete penetrance in genetic disorders can be influenced by genetic variant quality, genetic and epigenetic modification, environment, and mosaicism.

A human inborn error of immunity guided discovery and development of a prophylactic, mRNA-based antiviral.

This review explores how genetic variation impacts early B cell development, highlighting key genes and pathways involved in lineage commitment, V(D)J reco

Researchers at LMU have elucidated why certain RNA modifications do not trigger an immune response—a key mechanism for RNA therapeutics.

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Vicario et al. detected microglial mosaicism in histiocytosis patients, predominantly in the rhombencephalon gray nuclei and associated with astrocytosis, neuronal loss, and neurological symptoms in p...

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HoxA9, a homeodomain-containing transcription factor, is mis-expressed in over half of acute myeloid leukemia (AML) cases, and is associated with poor prognosis. Previous studies indicated that HoxA9 ...