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.
Immune Reconstitution After Gene Therapy Approaches in Patients With X-Linked Severe Combined Immunodeficiency Disease.
Blanco E, Izotova N, Booth C, Thrasher AJ.
Front Immunol. 2020 Nov 27;11:608653. doi: 10.3389/fimmu.2020.608653. eCollection 2020.
Newborn screening for severe combined immunodeficiency-Coming to a region near you soon.
Elliman DAC, Gennery AR.
Clin Exp Immunol. 2021 Sep;205(3):343-345. doi: 10.1111/cei.13642. Epub 2021 Jul 8.
Severe Combined Immunodeficiency in the Newborn Period.
Salinas Cisneros G, Dvorak CC.
Neoreviews. 2025 Sep 1;26(9):e600-e614. doi: 10.1542/neo.26-9-051.
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.
