Related Experiment Video
Updated: Aug 15, 2026
Comparative Analysis of Human Growth Hormone in Serum Using SPRi, Nano-SPRi and ELISA Assays
Published on: January 7, 2016
Update on X-linked hypogammaglobulinemia with isolated growth hormone deficiency
Donn M Stewart1, Lan Tian, Luigi D Notarangelo
1Metabolism Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA, and Department of Pediatrics, University of Brescia, Italy.
Purpose Of Review:
To provide an update on the syndrome X-linked hypogammaglobulinemia with isolated growth hormone deficiency, focusing on the pedigree described originally.
Recent Findings:
An additional case of X-linked hypogammaglobulinemia with isolated growth hormone deficiency and an unaffected male have been born to a female carrier in the family, allowing improved disease locus mapping. Unpublished research has identified a mutation in the transcription factor myeloid elf-1-like factor that may be the cause of the disease.
Summary:
X-linked hypogammaglobulinemia with isolated growth hormone deficiency is not caused by Bruton's tyrosine kinase mutations in the family described originally, but may be due to a mutation in myeloid elf-1-like factor.
Related Concept Videos
01:15Hypoglycemia and Glucagon
01:31Hybridoma Technology
Hybridoma Selection
Commonly used fusion techniques — electroporation, polyethylene glycol...
01:20Myasthenia Gravis: Overview and Treatment
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which leads...