1.
J Clin Immunol
; 39(8): 842-845, 2019 11.
Article
in English
| MEDLINE
| ID: mdl-31617030
Subject(s)
Adenosine Deaminase/deficiency , Agammaglobulinemia/genetics , Intercellular Signaling Peptides and Proteins/genetics , RNA Splice Sites/genetics , RNA Splicing/immunology , Severe Combined Immunodeficiency/genetics , Adenosine Deaminase/genetics , Adenosine Deaminase/immunology , Agammaglobulinemia/diagnosis , Agammaglobulinemia/immunology , Child , Female , Homozygote , Humans , Intercellular Signaling Peptides and Proteins/deficiency , Loss of Function Mutation , Mutation , RNA Splicing/genetics , Severe Combined Immunodeficiency/diagnosis , Severe Combined Immunodeficiency/immunology
2.
J Pediatr
; 177: 316-320, 2016 10.
Article
in English
| MEDLINE
| ID: mdl-27514238
ABSTRACT
Adenosine deaminase 2 deficiency is an autoinflammatory disease, characterized by various forms of vasculitis. We describe 5 patients with adenosine deaminase 2 deficiency with various hematologic manifestations, including pure red cell aplasia, with no evidence for vasculitis.
Subject(s)
Adenosine Deaminase/deficiency , Intercellular Signaling Peptides and Proteins/deficiency , Adenosine Deaminase/genetics , Child , Child, Preschool , Female , Humans , Infant , Intercellular Signaling Peptides and Proteins/genetics , Male , Metabolism, Inborn Errors/diagnosis , Metabolism, Inborn Errors/genetics , Phenotype
3.
J Pediatr
; 145(5): 710-2, 2004 Nov.
Article
in English
| MEDLINE
| ID: mdl-15520787
ABSTRACT
Purine nucleoside phosphorylase deficiency is a primary immunodeficiency syndrome characterized by the triad of recurrent infection, neurologic dysfunction, and autoimmunity. This patient presented atypically with few infections and normal T-cell function. Progressive lymphopenia, ataxia, and developmental delay led to diagnosis. Umbilical cord blood transplantation corrected the immunodeficiency.