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Blood|August 21, 2014
A nonsense mutation in IKBKB causes combined immunodeficiencyTalal Mousallem, Jialong Yang, Thomas J Urban, et al.
Frontiers in Pediatrics|September 2, 2024
Case Report: Aplastic anemia related to a novel CTLA4 variantGeoffrey Hall, Janet G Markle, James Maiarana, et al.
Virology|November 8, 2005
Ceramide regulates SR protein phosphorylation during adenoviral infectionSouha S Kanj, Nadine Dandashi, Aimee El-Hed, et al.
Frontiers in Pediatrics|March 22, 2024
Case Report: Profound newborn leukopenia related to a novel RAC2 variantGeoffrey Hall, Ágnes Donkó, Cristina Pratt, et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology|July 9, 2026
A National Registry for Female Carriers of Chronic Granulomatous DiseaseBenjamin Stewart-Bates, Nikhil N Patel, Talal Mousallem, et al.
Journal of Clinical Immunology|April 15, 2016
Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short StatureSlavé Petrovski, Roberta E Parrott, Joseph L Roberts, et al.
The Journal of Biological Chemistry|November 24, 2005
The CLN9 protein, a regulator of dihydroceramide synthaseAngela Schulz, Talal Mousallem, Maya Venkataramani, et al.
Clinical Immunology (Orlando, Fla.)|March 2, 2025
IKAROS protein stability is regulated by its early N-terminal region and C-terminal dimerization domainNatchanun Klangkalya, Ana Esteve-Sole, Agustin A Gil Silva, et al.
Journal of Clinical Immunology|March 27, 2025
Multi-Year Registry Study of Elapegademase Treatment in Patients With Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Requiring Enzyme Replacement TherapyMorna J Dorsey, Manish J Butte, Jay A Lieberman, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|April 16, 2025
Clinicopathologic Features and the Spectrum of Myelokathexis in Warts, Hypogammaglobulinemia, Infections, Myelokathexis SyndromeJingwei Li, Marine Delecourt-Billet, Odile Fenneteau, et al.
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