Last Updated: 09/26/2026
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Found 138 publications
Cryptosporidiosis in inborn errors of immunity: a single center cohort and review of the literature.
Cryptosporidiosis in inborn errors of immunity: a single center cohort and review of the literature.
Journal: The Journal of infectious diseases
Published: January 28, 2026
Clinical Spectrum and Therapeutic Options in Monogenic CTLA-4-, LRBA-, or SOCS1-Related Primary Immune Regulatory Disorders.
Journal: The journal of allergy and clinical immunology. In practice
Published: December 22, 2025
Targeted deep sequencing identifies mosaicism in patients with immune dysregulation.
Journal: The Journal of allergy and clinical immunology
Published: September 03, 2025
Targeted deep sequencing identifies mosaicism in patients with immune dysregulation.
Journal: The Journal of allergy and clinical immunology
Published: September 03, 2025
Clinical relevance of mosaic variants detected by exome sequencing.
Journal: The Journal of allergy and clinical immunology
Published: September 03, 2025
A systematic literature review of CVID reveals pervasive detrimental noninfectious manifestations.
Journal: Journal of human immunity
Published: July 17, 2025
Additive effects of common and rare genetic variants on inflammatory bowel disease risk in a cohort with immunodeficiency.
Journal: The Journal of allergy and clinical immunology
Published: June 11, 2025
Correction: The intestinal microbiome and metabolome discern disease severity in cytotoxic T-lymphocyte-associated protein 4 deficiency.
Journal: Microbiome
Published: March 16, 2025
Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome.
Journal: The Journal of pediatrics
Published: December 12, 2024
Beyond FAScinating: advances in diagnosis and management of autoimmune lymphoproliferative syndrome and activated PI3 kinase δ syndrome.
Journal: Hematology. American Society of Hematology. Education Program
Published: December 07, 2024
A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion.
Journal: Science translational medicine
Published: September 18, 2024
Last Updated: 09/26/2026