Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

Desirée Schubert, Claudia Bode, Rupert Kenefeck, +37

Nature Medicine

ImmunogeneticsAutoimmune DiseaseImmunodeficienciesGeneticsImmunology +10

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects

Charlotte Schwab, Annemarie Gabrysch, Peter Olbrich, +77

Journal of Allergy and Clinical Immunology

Clinical ImmunologyAllergyLymphocyte DevelopmentMedicineImmunodeficiencies +10

Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency

Manfred Fliegauf, Vanessa L. Bryant, Natalie Frede, +19

The American Journal of Human Genetics

Primary ImmunodeficiencyImmunodeficienciesImmunologyPathologyImmunologic Disease +8

Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2

Christian Klemann, Nadezhda Camacho-Ordóñez, Linlin Yang, +20

Frontiers in Immunology

ZNF341 controls STAT3 expression and thereby immunocompetence

Stefanie Frey-Jakobs, Julia Maria Hartberger, Manfred Fliegauf, +26

Science Immunology

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease

Batsukh Dorjbal, Jeffrey R. Stinson, Chi A., +52

Journal of Allergy and Clinical Immunology

Clinical ImmunologyMolecular ImmunologyImmunogeneticsImmunologyAutoimmunity +9

The TH1 phenotype of follicular helper T cells indicates an IFN-γ–associated immune dysregulation in patients with CD21low common variable immunodeficiency

Susanne Unger, Maximilian Seidl, Pauline A. van Schouwenburg, +16

Journal of Allergy and Clinical Immunology

Clinical ImmunologyImmunodeficienciesImmune RegulationImmunologyImmunodominance +15

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Tiziana Lorenzini, Manfred Fliegauf, Nils Klammer, +238

Journal of Allergy and Clinical Immunology

Autoimmune DiseaseGenetic DisorderMedicineGeneticsImmunologic Phenotype +9

Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency

Johanna Schepp, Alla Bulashevska, Wilma Mannhardt-Laakmann, +6

Journal of Clinical Immunology

Primary ImmunodeficiencyAutoimmune DiseaseImmunodeficienciesImmunologyAutoimmunity +5

<i>DCLRE1C</i>(ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency

Timo Volk, Ulrich Pannicke, İsmail Reisli, +23

Human Molecular Genetics