Last Updated: 09/26/2026
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Found 92 publications
Inherited human TFIIIA deficiency disrupts T cell development.
Journal: medRxiv : the preprint server for health sciences
Published: July 10, 2026
PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.
Journal: medRxiv : the preprint server for health sciences
Published: April 10, 2026
PTPN1 -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.
Journal: medRxiv : the preprint server for health sciences
Published: April 10, 2026
Key and emerging concepts in inborn errors of immunity and immune dysregulation.
Journal: The Journal of allergy and clinical immunology
Published: April 07, 2026
Autosomal dominant CDC45 deficiency with allelic expression bias causes a novel genetic disease of the immune system.
Journal: bioRxiv : the preprint server for biology
Published: March 23, 2026
Distinct EBV-Associated Phenotypes Due to a Novel Homozygous Missense Variant in CD27.
Journal: bioRxiv : the preprint server for biology
Published: January 29, 2026
2025 Inborn errors of immunity practice parameter: Guidance from the Joint Task Force on Practice Parameters, the American Academy of Allergy, Asthma & Immunology (AAAAI), the American College of Allergy, Asthma and Immunology (ACAAI) and the Clinical Immunology Society (CIS).
Journal: Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology
Published: September 09, 2025
An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families.
Journal: Genome medicine
Published: June 14, 2025
Hidden splice variants in inborn errors of immunity: Uncovering diagnoses and therapeutic targets.
Journal: The Journal of allergy and clinical immunology
Published: May 06, 2025
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA , DCLRE1C , IL2RG , IL7R , JAK3 , RAG1 , and RAG2.
Journal: medRxiv : the preprint server for health sciences
Published: February 24, 2025
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 23, 2025
Last Updated: 09/26/2026