Variable Presentation of the CYBB Mutation in One Family, Approach to Management, and a Review of the Literature
Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder marked by abnormal phagocytic function. CGD affects primarily neutrophils and manifests as an early predisposition to severe life-threatening infections. Additionally, patients with CGD are predisposed to unique autoimmune ma...
Saved in:
Main Authors: | Tatyana Gavrilova, Ari Zelig, Diana H. Lee |
---|---|
Format: | Article |
Language: | English |
Published: |
Wiley
2020-01-01
|
Series: | Case Reports in Medicine |
Online Access: | http://dx.doi.org/10.1155/2020/2546190 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss
by: Fengguo Zhang, et al.
Published: (2018-01-01) -
A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression
by: Li Zhang, et al.
Published: (2024-01-01) -
Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His VCP Mutation
by: Nivedita U. Jerath
Published: (2019-01-01) -
Evaluation of “One Body, One Life”: A Community-Based Family Intervention for the Prevention of Obesity in Children
by: Marsha Towey, et al.
Published: (2011-01-01) -
Mutation Analysis of HTRA2 Gene in Chinese Familial Essential Tremor and Familial Parkinson’s Disease
by: Ya-Chao He, et al.
Published: (2017-01-01)