CRISPR–Cas9 genome editing induces a p53-mediated DNA damage response

Emma Haapaniemi, Sandeep K. Botla, Jenna Persson, +2

Nature Medicine

Crispr–cas9 GenomeGene EditingGenome EditingMedicineCell Biology +1

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

Sarah E. Flanagan, Emma Haapaniemi, Mark A. Russell, +20

Nature Genetics

ImmunogeneticsAutoimmune DiseaseAutoantibody ProductionImmune Cell DevelopmentImmunodeficiencies +9

Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3

Emma Haapaniemi, Meri Kaustio, Hanna Rajala, +24

Blood

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

Kerry Dobbs, Cecilia Domínguez Conde, Shen‐Ying Zhang, +46

New England Journal of Medicine

Lymphocyte DevelopmentAdaptive Immune SystemImmunodeficienciesCellular ImmunologyImmunology +23

Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes

Meri Kaustio, Emma Haapaniemi, Helka Göös, +26

Journal of Allergy and Clinical Immunology

Genome InstabilityImmunogeneticsGeneticsImmunologyNfkb1 Lead +5

Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

Jennifer W. Leiding, Tiphanie P. Vogel, Valentine G.J. Santarlas, +97

Journal of Allergy and Clinical Immunology

Stat3 Gain-of-function SyndromeMonogenic Early-onset LymphoproliferationAutoimmune DiseaseAutoantibody ProductionImmune Cell Development +11

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

Salla Keskitalo, Emma Haapaniemi, Elísabet Einarsdóttir, +16

Frontiers in Immunology

Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction

Meri Kaustio, Naemeh Nayebzadeh, Reetta Hinttala, +34

Journal of Allergy and Clinical Immunology

Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections

Svetlana Sharapova, Emma Haapaniemi, Inga Sakovich, +11

Clinical Immunology

Primary ImmunodeficiencyHuman RetrovirusPathogenesisImmunologyViral Infections +5

Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease

Salla Keskitalo, Emma Haapaniemi, Virpi Glumoff, +13

npj Genomic Medicine