CD40 Deficiency, Hyper-IgM Syndrome Type 3 (OMIM # 606843)
Author:
de la Morena M. Teresa
Publisher
Springer New York
Reference10 articles.
1. Al-Saud BK, Al-Sun Z, Alassiri H, Al-Ghonaium A, Al-Muhsen S, Al-Dhekri H, et al. Clinical, immunological, and molecular characterization of hyper –IgM syndrome due to CD40 deficiency in eleven patients. J Clin Immunol. 2013;33:1325–35. 2. Al-Saud B, Al-Jomaie M, Al-Ghonaium A, Al-Ahmari A, Al-Mousa H, et al. Haematopoietic stem cell transplant for hyper-IgM syndrome due to CD40 defects: a single-centre experience. Bone Marrow Transplant. 2019;54:63–7. 3. Ferrari S, Giliani S, Insalaco A, Al-Ghonaium A, Soresina AR, Loubser M, et al. Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Proc Natl Acad Sci U S A. 2001;98(22):12614–9. 4. Gormand F, Briere F, Peyrol S, Raccurt M, Durand I, Ait-Yahia S, et al. CD40 expression by human bronchial epithelial cells. Scand J Immunol. 1999;49(4):355–61. 5. Karaca NE, Forveille M, Aksu G, Durandy A, Kutukculer N. Hyper-immunoglobulin M syndrome type 3 with normal CD40 cell surface expression. Scand J Immunol. 2012;76(1):21–5.
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