1.
J Allergy Clin Immunol
; 138(6): 1752-1755, 2016 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27554814
Assuntos
Janus Quinase 1/antagonistas & inibidores , Janus Quinase 2/antagonistas & inibidores , Proteínas de Membrana/genética , Mutação/genética , Inibidores de Proteínas Quinases/uso terapêutico , Pirazóis/uso terapêutico , Criança , Pré-Escolar , Feminino , Humanos , Janus Quinase 1/genética , Janus Quinase 2/genética , Masculino , Nitrilas , Pirimidinas
2.
Am J Med Genet A
; 140(11): 1131-5, 2006 Jun 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16691627
RESUMO
We present a novel, likely autosomal recessive, multi-system disorder seen in three siblings, two males and one female, born to nonconsanguineous parents. The disease manifests as agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. The constellation of clinical signs seen in this family likely represents a new and recognizable form of agammaglobulinemia due to a defect in early B-cell maturation.