| X-linked Hyper IgM Syndrome: A Novel Sequence Variant Associated With An Atypical Mild Phenotype. | |
| | |
MedLine Citation:
|
PMID: 22322937 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
X-linked hyper IgM syndrome is associated with abnormalities in the gene encoding CD40 ligand (CD40LG). A typical phenotype evolves during infancy in affected males. This phenotype includes neutropenia, dysgammaglobulinemia, bacterial sinopulmonary infections, and opportunistic infections. In the absence of the typical phenotypic features, clinicians must maintain a high level of suspicion for X-linked hyper IgM syndrome. We describe a unique hemizygous CD40LG mutation which was discovered in a 12-year-old boy with chronic severe neutropenia, a normal IgG level, and absence of sinopulmonary or opportunistic infections. The clinical implications of this mutation and associated atypical phenotype are discussed. |
| | |
Authors:
|
David Buchbinder; Sang Park; Diane Nugent |
Related Documents
:
|
2744037 - Haemolytic-uraemic syndrome associated with streptococcus pneumoniae meningitis. 12818907 - Pathophysiology of meningococcal meningitis and septicaemia. 3908697 - Acquired functional asplenia in sarcoidosis. 22225777 - Oral extragonadal yolk sac tumor in a patient with aicardi syndrome: putative origin an... 22215957 - Chromosome 19p13.3 deletion in a child with peutz-jeghers syndrome, congenital heart de... 16616747 - Adult onset of declining spermatogenesis in a man with nonmosaic klinefelter's syndrome. |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2012-2-8 |
Journal Detail:
|
Title: Journal of pediatric hematology/oncology Volume: - ISSN: 1536-3678 ISO Abbreviation: - Publication Date: 2012 Feb |
Date Detail:
|
Created Date: 2012-2-10 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9505928 Medline TA: J Pediatr Hematol Oncol Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
|
Division of Hematology, CHOC Children's Hospital, Orange, CA. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Diagnoses Unveiled by Early Bronchoscopy in Children With Leukemia and Pulmonary Infiltrates.
Next Document: Intrabone Cord Blood Hematopoietic Stem Cell Transplantation in a Subset of Very High-Risk Pediatric...