Authors
Mattison P Stojcic, Makenzie A Manning, Miguel Galicchio, Manfred Hönig, Despina Moshous, Sven Kracker, Felipe Suarez, Ruben Martinez-Barricarte, Aidé Tamara Staines-Boone, Yuridia Salazar Gálvez, Edgar-Domingo Cordero-Chura, Estefany-Graciela Mamani-Velasquez, Jian Cui, Jeremie Rosain, Pandiarajan Vignesh, Sergio D Rosenzweig, Klaus Schwarz, Catherine M Biggs, Jacob Rozmus, Stuart E Turvey
Published in
Journal of human immunity. Volume 2. Issue 6. Nov 02, 2026. Epub Oct 09, 2026.
Abstract
IRF4 is a transcription factor within the interferon regulatory factor family that controls key aspects of lymphocyte differentiation and adaptive immunity. The heterozygous IRF4 p.Thr95Arg (p.T95R) variant affecting the DNA-binding domain was recently identified to cause a new inborn error of immunity, but the longitudinal clinical course and therapeutic implications remain incompletely defined. We performed detailed clinical characterization and follow-up of all 10 known patients. Each presented with early-onset combined immunodeficiency characterized by hypo- or agammaglobulinemia and marked susceptibility to opportunistic infections. Pulmonary disease was universal, and gastrointestinal involvement was associated with a more severe clinical course. Four patients underwent hematopoietic stem cell transplantation; two survived, and two died. Notably, both deaths occurred in patients transplanted in the setting of active infection. These findings define IRF4 p.T95R as a profound combined immunodeficiency with high infectious burden and demonstrate that disease severity and intervention timing may contribute to transplant outcomes, supporting early diagnosis and timely transplantation before uncontrolled infection.
PMID:
42853148
Bibliographic data and abstract were imported from PubMed on 09 Oct 2026.
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