1.
Pediatr Blood Cancer
; 70(5): e30183, 2023 05.
Artículo
en Inglés
| MEDLINE
| ID: mdl-36583469
Asunto(s)
Anemia Hemolítica Autoinmune , Trasplante de Células Madre Hematopoyéticas , Síndromes de Inmunodeficiencia , Humanos , Anemia Hemolítica Autoinmune/etiología , Anemia Hemolítica Autoinmune/terapia , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Proteínas de Homeodominio , Linfocitos T , Trasplante Homólogo
2.
Front Immunol
; 10: 77, 2019.
Artículo
en Inglés
| MEDLINE
| ID: mdl-30891027
RESUMEN
Phosphoinositide 3-kinase (PI3K) plays an integral role in lymphocyte function. Mutations in PIK3CD and PIK3R1, encoding the PI3K p110δ and p85α subunits, respectively, cause increased PI3K activity and result in immunodeficiency with immune dysregulation. We describe here the first cases of disseminated and congenital toxoplasmosis in a mother and child who share a pathogenic mutation in PIK3R1 and review the mechanisms underlying susceptibility to severe Toxoplasma gondii infection in activated PI3Kδ syndrome (APDS) and in other forms of primary immunodeficiency.