Associated Papers
Hidden splice variants in inborn errors of immunity: Uncovering diagnoses and therapeutic targets.
Ochoa S et al.
The Journal of Allergy and Clinical Immunology, 2025
Case of T-B+NK+ X-Linked Severe Combined Immunodeficiency Disease.
Qian W et al.
Case Reports in Medicine, 2024
A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency.
Yamashita M et al.
International Journal of Hematology, 2019
Centralized rapid genetic diagnosis of combined immunodeficiency in Japan.
Kato T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0
40457861 (PubMed )
Supplement: PED-67-e70085-s003.xlsx › TableS3
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