Karin R. Engelhardt

Immunology and Microbiology · Life Sciences

28h-index4.6kcitations70works7.22yr avg
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Research Topics

Immunodeficiency and Autoimmune Disorders(37), Immune Cell Function and Interaction(19), Blood disorders and treatments(14), T-cell and B-cell Immunology(9), Chronic Lymphocytic Leukemia Research(4)

Publications69 total

Case Report: Novel neuroinflammatory syndrome associated with TONSL-related SPONASTRIME Dysplasia
Wellcome Open Research·2025Open Access
<i>NUDCD3</i> deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome
Science Immunology·2024· 5 citedOpen Access
Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3
Journal of Clinical Immunology·2024· 3 citedOpen Access
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome
The American Journal of Human Genetics·2024· 20 citedOpen Access
An interconnected data infrastructure to support large-scale rare disease research
GigaScience·2024· 8 citedOpen Access
Human DOCK11 Deficiency Causes Defective Erythropoiesis and Systemic Inflammation
Blood·2023· 1 cited
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency
New England Journal of Medicine·2023· 31 citedOpen Access
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
Human Genomics·2023· 27 citedOpen Access
Author Correction: Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice
Nature Genetics·2022· 2 citedOpen Access
Congenital nephrotic syndrome in IL7Rα-SCID: A rare feature of maternofetal graft-versus-host disease
The Journal of Allergy and Clinical Immunology In Practice·2021· 2 citedOpen Access
Variants in <i>STXBP3</i> are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation
Journal of Crohn s and Colitis·2021· 14 citedOpen Access
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice
Nature Genetics·2021· 99 citedOpen Access
Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2
Journal of Allergy and Clinical Immunology·2020· 16 citedOpen Access
Germline TET2 loss of function causes childhood immunodeficiency and lymphoma
Blood·2020· 83 citedOpen Access
Improved transplant survival and long-term disease outcome in children with MHC class II deficiency
Blood·2020· 28 cited
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in <i>STAT2</i>
Science Immunology·2019· 109 citedOpen Access
Experimentelle Untersuchungen zur automatisierten Tiergewichtserfassung bei Milchkühen, Mastbullen und Aufzuchtkälbern
mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich)·2019· 3 citedOpen Access
Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of <i>PIK3CD</i>-encoded phosphoinositide 3-kinase δ
Haematologica·2019· 36 citedOpen Access
Human interleukin-2 receptor beta mutations associated with defects in immunity and peripheral tolerance
The Journal of Immunology·2019· 6 cited
Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance
The Journal of Experimental Medicine·2019· 88 citedOpen Access
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Frequent Co-authors

Sophie Hambleton(28), Bodo Grimbacher(16), Andrew J. Cant(14), Andrew R. Gennery(10), Peter D. Arkwright(9), Helen Griffin(9), Joseph D. P. Willet(7), David Swan(7), Mario Abinun(7), Mary Slatter(6), Christoph Klein(5), Jennifer M. Puck(5), Mauro Santibáñez Koref(5), Angela Grainger(5), Meghan Acres(5), Stephen Hughes(5), D Barge(5), Alexander Hoischen(5), Yaobo Xu(4), Dietmar Pfeifer(4)