Revisiting Human IL-12Rβ1 Deficiency

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

Medicine

Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency

Vanessa Sancho‐Shimizu, Rebeca Pérez de Diego, Lazaro Lorenzo, +31

Journal of Clinical Investigation

Autoimmune DiseaseUnrelated Hse ChildrenPathogenesisImmunologyPediatrics +12

Outcome of hematopoietic stem cell transplantation for adenosine deaminase–deficient severe combined immunodeficiency

Amel Hassan, Claire Booth, Alex Brightwell, +35

Blood

Inherited IL-12p40 Deficiency

Carolina Prando, Arina Samarina, Jacinta Bustamante, +43

Medicine

Bcg VaccinationImmunodeficienciesIl-12p40 DeficiencyImmunologyGenetic Epidemiology +18

Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis

Fabien G. Lafaille, Oliver Harschnitz, Yoon Seung Lee, +40

Nature Medicine

JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency

Fahad Alsohime, Marta Martín-Fernández, Mohamad‐Hani Temsah, +21

New England Journal of Medicine

Clinical, Immunological and Molecular Characterization of DOCK8 and DOCK8-like Deficient Patients: Single Center Experience of Twenty Five Patients

Zobaida Alsum, Abbas Hawwari, Osama Alsmadi, +12

Journal of Clinical Immunology

Molecular CharacterizationAutoimmune DiseaseImmunodeficienciesImmunologyPathology +5

Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients

Amal H. Aljohani, Hamoud Al‐Mousa, Rand Arnaout, +8

Journal of Clinical Immunology

Primary ImmunodeficiencyClinical ImmunologyAutoimmune DiseaseHuman RetrovirusImmunodeficiencies +13

Methylation-Specific Multiplex-Ligation-Dependent Probe Amplification as a Rapid Molecular Diagnostic Tool for Pseudohypoparathyroidism Type 1b

Zobaida Alsum, Leen Abu Safieh, Anders O.H. Nygren, +2

Genetic Testing and Molecular Biomarkers

Mendelian DisorderGenetic DisorderMedicineGeneticsEpigenetic Change +12

Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency

Cecilia B. Korol, Serkan Belkaya, Fahad Alsohime, +10

Journal of Clinical Immunology