Results 121 to 130 of about 167,593 (141)

Novel IL2RG gene mutation causing primary combined immunodeficiency disease: A case report and literature review. [PDF]

Cent Eur J Immunol
Cao F, Shi Y, Deng F, Yan Y.
europepmc   +1 more source

Several Combined Immunodeficiency [PDF]

Riddhi Mokashi -, Prerana Palve -, Asmita Ovhal -, Bhagyashri Randhawa -   +3 more
openalex   +1 more source

Multi-Year Registry Study of Elapegademase Treatment in Patients With Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Requiring Enzyme Replacement Therapy. [PDF]

J Clin Immunol
Dorsey MJ, Butte MJ, Lieberman JA, Lehman H, Fausnight T, Keller MD, Fradette C, Hershfield MS, Pozos TC, Rozova A, Wall LA, Bednarski JJ, Tarrant TK, Chong HJ, Geng B, Temin NT, Laubach SS, Lin L, Mousallem T, Walter JE.   +19 more
europepmc   +1 more source

Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency. [PDF]

J Exp Med
Blanco E, Camps C, Bahal S, Kerai MD, Ferla MP, Rochussen AM, Handel AE, Golwala ZM, Spiridou Goncalves H, Kricke S, Klein F, Zhang F, Zinghirino F, Evans G, Keane TM, Lizot S, Kusters MAA, Iro MA, Patel SV, Morris EC, Burns SO, Radcliffe R, Vasudevan P, Price A, Gillham O, Valdebenito GE, Stewart GS, Worth A, Adams SP, Duchen M, André I, Adams DJ, Santili G, Gilmour KC, Holländer GA, Davies EG, Taylor JC, Griffiths GM, Thrasher AJ, Dhalla F, Kreins AY.   +40 more
europepmc   +1 more source

Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience. [PDF]

World J Pediatr
Chen C, Zhang C, Wu DW, Wang BY, Xiao R, Huang XL, Yang X, Gao ZG, Yang RL.   +8 more
europepmc   +1 more source

Neonatal Screening for Severe Combined Immunodeficiency

, 2018
Goncalo Espirito Santo Matos, Lino Marques   +1 more
openalex   +1 more source

Case report: A novel <i>JAK3</i> homozygous variant in a patient with severe combined immunodeficiency and persistent COVID-19. [PDF]

Front Immunol
Sbruzzi RC, Prado MJ, Fam B, Prolla HA, Hellwig A, Motta Rodrigues G, de-Paris F, Jobim M, Artigalás O, Seeleuthner Y, Casanova JL, Bustamante J, Vianna FSL.   +12 more
europepmc   +1 more source

Corrigendum: Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency. [PDF]

Front Immunol
Rucci F, Poliani PL, Caraffi S, Paganini T, Fontana E, Giliani S, Alt FW, Notarangelo LD.   +7 more
europepmc   +1 more source

Novel Missense DNA Variants in the IL2RG Gene Identified in Slovak X-linked Severe Combined Immunodeficiency Disease Patients: A Case Report. [PDF]

Cureus
Krasnanska G, Blandova G, Baldovic M, Andrejkova M, Konecny M.   +4 more
europepmc   +1 more source