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

Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency

David Boutboul, Hye Sun Kuehn, Zoé Van de Wyngaert, +31

Journal of Clinical Investigation

ImmunodeficienciesGeneticsImmunologyDominant-negative Ikzf1 MutationsPathology +17

Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations

Akihiro Hoshino, Satoshi Okada, Kenichi Yoshida, +26

Journal of Allergy and Clinical Immunology

ImmunogeneticsAutoimmune DiseaseImmunodeficienciesPathogenesisHematology +11

Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome

Masatoshi Takagi, Shohei Ogata, Hiroo Ueno, +22

Journal of Allergy and Clinical Immunology

Gain-of-function <i>IKBKB</i> mutation causes human combined immune deficiency

Chelisa Cardinez, Bahar Miraghazadeh, Kay Tanita, +21

The Journal of Experimental Medicine

Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts

Alexandre Bélot, Gillian Rice, Ommar Omarjee, +97

The Lancet Rheumatology

Genome-wide Association StudyGenetic Panel AnalysisAllelic VariantAutoimmune DiseaseSystemic Lupus Erythematosus +9

Gain-of-function <i>IKZF1</i> variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation

Akihiro Hoshino, David Boutboul, Yuan Zhang, +20

Science Immunology

Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan

Shintaro Ono, Tsubasa Okano, Akihiro Hoshino, +14

Journal of Clinical Immunology

TransplantationXenotransplantationBone Marrow FailureStem Cell TransplantationImmunology +5

Multicolor Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases

Takehiro Takashima, Miko Okamura, Tzu‐Wen Yeh, +10

Journal of Clinical Immunology

Primary ImmunodeficiencyAutoimmune DiseaseMedicineImmunologyDiagnosis +12

A Female Patient with Incomplete Hemophagocytic Lymphohistiocytosis Caused by a Heterozygous XIAP Mutation Associated with Non-Random X-Chromosome Inactivation Skewed Towards the Wild-Type XIAP Allele

Xi Yang, Akihiro Hoshino, Takashi Taga, +14

Journal of Clinical Immunology

Genetic DisorderHematologyPathologyWild-type Xiap AlleleInborn Error Of Immunity +2