Area of research
Immunology · Genetics
Research interest
Research interests include Immunodeficiency and Autoimmune Disorders, Blood disorders and treatments, Immune Cell Function and Interaction, and T-cell and B-cell Immunology.
Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee
The 2024 update of IUIS phenotypic classification of human inborn errors of immunity
SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency
A deep intronic splice–altering <i>AIRE</i> variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion
JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study
Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia
The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee
The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity
Studying severe long COVID to understand post-infectious disorders beyond COVID-19
STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological NKG2Dhi CD8+ T cell dysregulation and accumulation
Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin
Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae
Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis
The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee
A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection
Global systematic review of primary immunodeficiency registries
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score
Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders
Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy
Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders
Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes
Unexpectedly High Prevalence of Common Variable Immunodeficiency in Finland
Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3
The evolution of cellular deficiency in GATA2 mutation