Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency

Jolán E. Walter, Lindsey B. Rosen, Krisztián Csomós, +54

Journal of Clinical Investigation

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency

Jocelyn R. Farmer, Zsófia Földvári, Boglárka Ujházi, +70

The Journal of Allergy and Clinical Immunology In Practice

Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients

Christoph B. Geier, Maryssa Ellison, Rachel Cruz, +80

Journal of Clinical Immunology

Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet+ B cells

Krisztián Csomós, Boglárka Ujházi, Péter Blazsó, +46

Nature Immunology

Familial Immune Thrombocytopenia Associated With a Novel Variant in IKZF1

Panida Sriaroon, Yenhui Chang, Boglárka Ujházi, +6

Frontiers in Pediatrics

Cellular Mechanisms Underlying B Cell Abnormalities in Patients With Gain-of-Function Mutations in the PIK3CD Gene

Wenjie Wang, Qing Min, Nannan Lai, +18

Frontiers in Immunology

Vasculitis as a Major Morbidity Factor in Patients With Partial RAG Deficiency

Christoph B. Geier, Jocelyn R. Farmer, Zsófia Földvári, +22

Frontiers in Immunology

Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening

Pooja Purswani, Cristina Meehan, Hye Sun Kuehn, +24

Frontiers in Pediatrics

Combined Immunodeficiency With Late-Onset Progressive Hypogammaglobulinemia and Normal B Cell Count in a Patient With RAG2 Deficiency

Mayra Dorna, Pamela F. A. Barbosa, Andréia Rangel-Santos, +7

Frontiers in Pediatrics

Asymptomatic Infant With Atypical SCID and Novel Hypomorphic RAG Variant Identified by Newborn Screening: A Diagnostic and Treatment Dilemma

Maria Chitty-Lopez, Emma Westermann-Clark, Irina Dawson, +12

Frontiers in Immunology