1.
J Clin Immunol
; 40(1): 248-250, 2020 01.
Article
in English
| MEDLINE
| ID: mdl-31834557
2.
Ann Allergy Asthma Immunol
; 120(4): 450, 2018 04.
Article
in English
| MEDLINE
| ID: mdl-29471031
Subject(s)
Asthma , Dexamethasone , Adrenal Cortex Hormones , Algorithms , Child , Humans , Inpatients
3.
Ann Allergy Asthma Immunol
; 120(1): 94-95, 2018 Jan.
Article
in English
| MEDLINE
| ID: mdl-29162317
Subject(s)
Adrenal Cortex Hormones/therapeutic use , Asthma/drug therapy , Dexamethasone/therapeutic use , Acute Disease , Adolescent , Asthma/epidemiology , Child , Child, Preschool , Disease Progression , Female , Humans , Male , Patient Readmission/statistics & numerical data , Retrospective Studies , Severity of Illness Index , United States/epidemiology
4.
Persistent Enteropathy in a Toddler with a Novel FOXP3 Mutation and Normal FOXP3 Protein Expression.
J Pediatr
; 186: 183-185, 2017 07.
Article
in English
| MEDLINE
| ID: mdl-28457527
ABSTRACT
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is caused by mutations in the FOXP3 gene. Patients usually present with a clinical triad of intractable diarrhea, diabetes, and eczema. In this patient, FOXP3 protein expression was normal, but FOXP3 Sanger sequencing confirmed the clinical suspicion of IPEX by detecting a previously unreported missense variant. Early recognition of IPEX is important, because hematopoietic stem cell transplantation can be curative.
