98 citations
,
March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
2 citations
,
July 2022 in “Pediatric dermatology” A toddler with a rash and developmental delays improved after treatment for severe malnutrition caused by a diet lacking in protein.
1 citations
,
May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
January 2025 in “Annals of Thoracic and Cardiovascular Surgery” Removing the thymoma improved the patient's alopecia areata, suggesting a possible link between the two.
8 citations
,
August 2009 in “Pediatric transplantation” A five-month-old boy with Omenn syndrome successfully recovered after a stem cell transplant with reduced intensity conditioning.