Severe combined immunodeficiency diagnosis and genetic defects.
Aranda CS, Gouveia-Pereira MP, da Silva CJM, Rizzo MCFV, Ishizuka E, de Oliveira EB, Condino-Neto A.
Immunol Rev. 2024 Mar;322(1):138-147. doi: 10.1111/imr.13310. Epub 2024 Jan 29.
Review: Why screen for severe combined immunodeficiency disease?
Thomas C, Hubert G, Catteau A, Danielo M, Riche VP, Mahlaoui N, Moshous D, Audrain M.
Arch Pediatr. 2020 Nov;27(8):485-489. doi: 10.1016/j.arcped.2020.08.008. Epub 2020 Sep 11.
Severe combined immunodeficiency: improved survival leading to detection of underlying liver disease.
Vittal A, Abdul Majeed N, Garabedian E, Marko J, Kleiner DE, Sokolic R, Candotti F, Malech H, Heller T, Koh C.
BMC Gastroenterol. 2023 May 19;23(1):166. doi: 10.1186/s12876-023-02782-8.
Severe Combined Immunodeficiency Disorders.
Chinn IK, Shearer WT.
Immunol Allergy Clin North Am. 2015 Nov;35(4):671-94. doi: 10.1016/j.iac.2015.07.002.
Severe combined immunodeficiency. A model disease for molecular immunology and therapy.
Fischer A, Le Deist F, Hacein-Bey-Abina S, André-Schmutz I, Basile Gde S, de Villartay JP, Cavazzana-Calvo M.
Immunol Rev. 2005 Feb;203:98-109. doi: 10.1111/j.0105-2896.2005.00223.x.
Newborn screening for severe combined immunodeficiency and inborn errors of immunity.
Lev A, Somech R, Somekh I.
Curr Opin Pediatr. 2023 Dec 1;35(6):692-702. doi: 10.1097/MOP.0000000000001291. Epub 2023 Sep 14.
FOXN1 deficient nude severe combined immunodeficiency.
Rota IA, Dhalla F.
Orphanet J Rare Dis. 2017 Jan 11;12(1):6. doi: 10.1186/s13023-016-0557-1.
Severe combined immunodeficiency disease, adenosine deaminase deficiency and gene therapy.
Parkman R, Gelfand EW.
Curr Opin Immunol. 1991 Aug;3(4):547-51. doi: 10.1016/0952-7915(91)90019-w.
TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review.
van der Spek J, Groenwold RH, van der Burg M, van Montfrans JM.
J Clin Immunol. 2015 May;35(4):416-30. doi: 10.1007/s10875-015-0152-6. Epub 2015 Apr 17.
Transplantation to save the life, TSH screening to save the brain: A report and brief literature review of autoimmune thyroid disease after HSCT for severe combined immunodeficiency.
Baccelli F, Ortolano R, Conti F, Soncini E, Baronio F, Masetti R, Ferrari S, Cassio A, Pession A.
Clin Immunol. 2022 Dec;245:109142. doi: 10.1016/j.clim.2022.109142. Epub 2022 Sep 28.
