Pyogenic Bacterial Infections in Humans with MyD88 Deficiency

Horst von Bernuth, Capucine Pïcard, Zhongbo Jin, +34

Science

InflammationToll-like ReceptorsNine ChildrenMyd88 DeficiencyDisease Mechanism +12

Revisiting Human IL-12Rβ1 Deficiency

Ludovic de Beaucoudrey, Arina Samarina, Jacinta Bustamante, +114

Medicine

Detection of interferon alpha protein reveals differential levels and cellular sources in disease

Mathieu P. Rodero, Jérémie Decalf, Vincent Bondet, +32

The Journal of Experimental Medicine

Cellular SourcesImmunodeficienciesImmunologyPathologyImmunodominance +28

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling

Isabelle Melki, Y Rose, Carolina Uggenti, +23

Journal of Allergy and Clinical Immunology

Signal TransductionNovel RegionDisease-associated MutationsGeneticsPathogenesis +7

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

Nicholas Hernandez, Isabelle Melki, Huie Jing, +31

The Journal of Experimental Medicine

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Emma M. Jenkinson, Mathieu P. Rodero, Paul R. Kasher, +62

Nature Genetics

Neurological DisorderGenetic DisorderPathologyDegenerative DiseaseCerebral Microangiopathy Leukoencephalopathy +3

HIRA Is Required for Heart Development and Directly Regulates Tnni2 and Tnnt3

Daniel Dilg, Rasha N.M. Saleh, Sarah Phelps, +7

PLoS ONE

Cardiac MuscleEpigenetic ChangeGeneticsDirectly Regulates Tnni2Cardiac Progenitor Cells +25

Brief Report: Blockade of TANK‐Binding Kinase 1/IKKɛ Inhibits Mutant Stimulator of Interferon Genes (STING)–Mediated Inflammatory Responses in Human Peripheral Blood Mononuclear Cells

Marie‐Louise Frémond, Carolina Uggenti, Lien Van Eyck, +10

Arthritis & Rheumatology

Hodgkin lymphoma in 2 children with chronic granulomatous disease

Saúl Oswaldo Lugo Reyes, Felipe Suárez, Rose-Marie Herbigneaux, +12

Journal of Allergy and Clinical Immunology

Lymphoid NeoplasiaHodgkin LymphomaPediatric HematologyHistopathologyPediatrics +3