1.
J Allergy Clin Immunol
; 138(6): 1752-1755, 2016 12.
Article
in English
| MEDLINE
| ID: mdl-27554814
Subject(s)
Janus Kinase 1/antagonists & inhibitors , Janus Kinase 2/antagonists & inhibitors , Membrane Proteins/genetics , Mutation/genetics , Protein Kinase Inhibitors/therapeutic use , Pyrazoles/therapeutic use , Child , Child, Preschool , Female , Humans , Janus Kinase 1/genetics , Janus Kinase 2/genetics , Male , Nitriles , Pyrimidines
2.
Am J Med Genet A
; 140(11): 1131-5, 2006 Jun 01.
Article
in English
| MEDLINE
| ID: mdl-16691627
ABSTRACT
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.