Compound Heterozygosity in Hyper‑IgM Syndrome Type 3: Case Report and Literature Review
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s10875-024-01666-0.pdf
Reference5 articles.
1. Durandy A, Kracker S. Class switch recombination defects. In: Sullivan KE, Stiehm ER, editors. Stiehm’s Immune Deficiencies: Inborn Errors in Immunity. 2nd ed. Cambridge, MA: Academic Press; 2020. p. 499–517.
2. Al-Saud BK, Al-Sum Z, Alassiri H, Al-Ghonaium A, Al-Muhsen S, Al-Dhekri H, Arnaout R, Alsmadi O, Borrero E, Abu-Staiteh A, Rawas F, Al-Mousa H, Hawwari A. Clinical, immunological, and molecular characterization of hyper-IgM syndrome due to CD40 deficiency in eleven patients. J Clin Immunol. 2013;33(8):1325–35. https://doi.org/10.1007/s10875-013-9951-9.
3. Al-Saud B, Al-Jomaie M, Al-Ghonaium A, Al-Ahmari A, Al-Mousa H, Al-Muhsen S, Al-Seraihy A, Arnaout R, Elshorbagi S, Al-Dhekri H, Ayas M. Haematopoietic stem cell transplant for hyper-IgM syndrome due to CD40 defects: a single-centre experience. Bone Marrow Transplant. 2019;54(1):63–7. https://doi.org/10.1038/s41409-018-0219-0.
4. Mazzolari E, Lanzi G, Forino C, Lanfranchi A, Aksu G, Ozturk C, Giliani S, Notarangelo LD, Kutukculer N. First report of successful stem cell transplantation in a child with CD40 deficiency. Bone Marrow Transplant. 2007;40(3):279–81. https://doi.org/10.1038/sj.bmt.1705713.
5. Al-Dhekri H, Al-Sum Z, Al-Saud B, Al-Mousa H, Ayas M, Al-Muhsen S, Arnaout R, Al-Seraihy A, Hawwari A, Al-Ghonaium A. Successful outcome in two patients with CD40 deficiency treated with allogeneic HCST. Clin Immunol. 2012;143(1):96–8. https://doi.org/10.1016/j.clim.2012.01.012.
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