1.
Pediatr Blood Cancer
; 70(5): e30183, 2023 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36583469
Assuntos
Anemia Hemolítica Autoimune , Transplante de Células-Tronco Hematopoéticas , Síndromes de Imunodeficiência , Humanos , Anemia Hemolítica Autoimune/etiologia , Anemia Hemolítica Autoimune/terapia , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Proteínas de Homeodomínio , Linfócitos T , Transplante Homólogo
2.
Front Immunol
; 10: 77, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30891027
RESUMO
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.