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

Emma Haapaniemi, Meri Kaustio, Hanna Rajala, +24

Blood

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

RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis

Artem Kalinichenko, Giovanna Perinetti Casoni, Luca Trotta, +20

Blood

SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population

Luca Trotta, Ilaria Guella, Giulia Soldà, +7

Parkinsonism & Related Disorders

α-Synuclein multiplication analysis in Italian familial Parkinson disease

Francesca Sironi, Luca Trotta, Angelo Antonini, +10

Parkinsonism & Related Disorders

Neurodegenerative DiseasesParkinson DiseaseDegenerative Pathologyα-Synuclein Multiplication AnalysisNeuroscience +5

Haploinsufficiency of A20 impairs protein–protein interactome and leads into caspase-8-dependent enhancement of NLRP3 inflammasome activation

Kristiina Rajamäki, Salla Keskitalo, Mikko Seppänen, +15

RMD Open

Analysis of the <i>GJB2</i> and <i>GJB6</i> Genes in Italian Patients with Nonsyndromic Hearing Loss: Frequencies, Novel Mutations, Genotypes, and Degree of Hearing Loss

Paola Primignani, Luca Trotta, Pierangela Castorina, +14

Genetic Testing and Molecular Biomarkers

GeneticsGenetic EpidemiologyHuman PolymorphismPathologyMolecular Genetics +17

Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland

Luca Trotta, Timo Hautala, Sari Hämäläinen, +9

European Journal of Human Genetics

Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency

Elina Tuovinen, Juha Grönholm, Tiina Öhman, +14

Journal of Clinical Immunology

ImmunodeficienciesIl-2 StimulationImmunologyPathologyImmune System +15

Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene

Ilaria Guella, Anna Pistocchi, Rosanna Asselta, +12

Neurobiology of Aging

Zebrafish Functional AnalysisDegenerative PathologyNeurochemical BiomarkersMutational ScreeningNeuroscience +3