Document Detail


Concomitant gene mutations of MBL and CYBB in chronic granulomatous disease: implications for host defense.
MedLine Citation:
PMID:  22280238     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Chronic granulomatous disease (CGD) is associated with defective function of the NADPH-oxidase system in conjunction with phagocytic defects which leads to granuloma formation and serious infectious complications. This is often associated with significant morbidity and mortality. The association of defective phagocyte function with other coincidental immune defects is unknown. Defects in innate pathways seen with CGD, including complement systems, and toll-like and dectin receptor pathways, have not been described before. We present the case of a 2-year old male patient hospitalized with recurrent pneumonia, a non-healing skin ulcer, necrotizing lung granulomas, and epididymo-orchitis. Defective neutrophil chemiluminescence was detected by dihydrorhodamine (DHR) testing. Further evaluation demonstrated characteristic molecular mutations of CYBB consistent with CGD. Immune evaluation demonstrated polyclonal hyperglobulinemia, but a greatly reduced mannose binding lectin (MBL) level. Six biallelic polymorphisms in MBL gene and its promoter were analyzed using Light CyclerTM Real-time PCR assay. The LXPA/LYPB haplotype of MBL was detected in our patient; the latter is the defective haplotype associated with low MBL levels. Due to the implications for innate immunity and the protection against bacterial, viral, and fungal infections provided by MBL, a deficiency of this protein may have disastrous consequences on the long term outcomes of CGD. MBL deficiency can also complicate other disorders affecting the immune system, significantly increasing the risk of infection in such patients. Further studies looking at the frequency and implications of MBL deficiency in CGD are needed.
Authors:
Casey Watkins; Hana Saleh; Eunkyung Song; Gayatri Bala Jaishankar; David S Chi; Niva Misran; Emma Peiris; Michelle L Altrich; Thomas Barklow; Guha Krishnaswamy
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Inflammation & allergy drug targets     Volume:  11     ISSN:  2212-4055     ISO Abbreviation:  Inflamm Allergy Drug Targets     Publication Date:  2012 Jun 
Date Detail:
Created Date:  2012-05-18     Completed Date:  2012-09-19     Revised Date:  2012-10-29    
Medline Journal Info:
Nlm Unique ID:  101266886     Medline TA:  Inflamm Allergy Drug Targets     Country:  United Arab Emirates    
Other Details:
Languages:  eng     Pagination:  222-6     Citation Subset:  IM    
Affiliation:
Department of Internal Medicine, Quillen College of Medicine, James H. Quillen VA Medical Center, Johnson City, P.O. Box 70622, TN 37614-0622, USA.
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MeSH Terms
Descriptor/Qualifier:
Alleles
Child, Preschool
Granulomatous Disease, Chronic / genetics,  physiopathology*
Humans
Immunity, Innate
Luminescent Measurements
Male
Mannose-Binding Lectin / deficiency,  genetics*
Membrane Glycoproteins / genetics*
Mutation
NADPH Oxidase / genetics*
Neutrophils / metabolism
Polymorphism, Genetic
Chemical
Reg. No./Substance:
0/CYBB protein, human; 0/Mannose-Binding Lectin; 0/Membrane Glycoproteins; EC 1.6.3.1/NADPH Oxidase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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