Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27

Elisabeth Salzer, Svenja Daschkey, Sharon Choo, +12

Haematologica

Adaptive Immune SystemImmunodeficienciesFunctional Cd27ImmunologyPathology +16

Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity

Katharina Willmann, Stefanie Klaver, Figen Doğu, +21

Nature Communications

JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia

Kaan Boztuǧ, Päivi M. Järvinen, Elisabeth Salzer, +32

Nature Genetics

Jagn1 DeficiencyHematological MalignancyBone Marrow FailureAutoimmune DiseaseHematology +8

B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ

Elisabeth Salzer, Elisangela Santos-Valente, Stefanie Klaver, +16

Blood

Early-onset inflammatory bowel disease and common variable immunodeficiency–like disease caused by IL-21 deficiency

Elisabeth Salzer, Aydan Kansu, Heiko Sic, +15

Journal of Allergy and Clinical Immunology

InflammationChronic Inflammatory DiseasesPrimary ImmunodeficiencyMucosal ImmunologyImmunodeficiencies +10

RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics

Elisabeth Salzer, Deniz Çağdaş, Miroslav Hons, +26

Nature Immunology

Primary ImmunodeficiencyAutoimmune DiseaseImmunologyAutoimmunityInborn Error Of Immunity +7

Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency

Sujal Ghosh, Sevgi Köstel Bal, Emily S.J. Edwards, +64

Blood

Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis

Nina K. Serwas, Birgit Hoeger, Rico Chandra Ardy, +39

Nature Communications

Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum

Martin Krenn, Elisabeth Salzer, Ingrid Simonitsch‐Klupp, +12

Journal of Neurology

Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress

Cecilia Domínguez Conde, Özlem Yüce Petronczki, Katharina Willmann, +16

Journal of Clinical Investigation