Last Updated: 09/26/2026
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Found 332 publications
Clinical pearls and pitfalls in inborn errors of immunity: An expert-derived framework for diagnostic pattern recognition.
Journal: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
Published: May 17, 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
How I Treat: Chronic granulomatous disease.
Journal: Journal of human immunity
Published: November 26, 2025
Clinical spectrum of Wiskott-Aldrich syndrome carriers: Self-reported survey of 193 carriers.
Journal: Clinical immunology (Orlando, Fla.)
Published: November 05, 2025
Newborn screening reduces survival disparities in SCID after stem cell transplant: A PIDTC report.
Journal: Journal of human immunity
Published: October 27, 2025
Novel Biallelic LIG3 Mutations Causing Lethal Phenotype With Immunodeficiency.
Journal: American journal of medical genetics. Part A
Published: October 03, 2025
First Assessment of Oral Iron Chelator HBED Increases Iron Excretion in Black Rhinoceros (Diceros bicornis minor).
Journal: Animals : an open access journal from MDPI
Published: September 05, 2025
The systemic effects of 22q11.2 deletion syndrome on immunity.
Journal: Journal of human immunity
Published: August 27, 2025
Single cell RNA-seq analysis of hematopoietic cell types in 22q11.2 deletion syndrome reveals significant changes to non-T cells.
Journal: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
Published: July 17, 2025
Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report.
Journal: Blood advances
Published: July 02, 2025
Last Updated: 09/26/2026