Mannose-Binding Protein Deficiency

A condition characterized by a mannose-binding lectin (MBL) protein level of less than 100 ng/ml, that occurs in about 5% of people of European descent and in about 10% of sub-Saharan Africans. Most MBL-deficient adults appear healthy, but low levels of MBL are associated with increased risk of infection in toddlers, in cancer patients undergoing chemotherapy, and in organ-transplant patients receiving immunosuppressive drugs, particularly recipients of liver transplants. Polymorphisms in the MBL2 gene have been identified. OMIM: 614372

Also Known As:

Networked: 187 relevant articles (4 outcomes, 17 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Infections
2.	Systemic Lupus Erythematosus (Libman-Sacks Disease)
3.	Bronchiectasis
4.	Rheumatoid Arthritis
5.	Muscular Diseases (Myopathy)

Experts

1.	Liu, Yunzhi: 6 articles (01/2022 - 01/2019)
2.	Zuo, Daming: 6 articles (01/2022 - 01/2019)
3.	Thiel, Steffen: 6 articles (04/2016 - 10/2005)
4.	Garred, Peter: 6 articles (01/2015 - 03/2002)
5.	Trendelenburg, Marten: 6 articles (01/2013 - 02/2007)
6.	Chen, Zhengliang: 5 articles (01/2022 - 01/2019)
7.	Lu, Xiao: 5 articles (01/2022 - 01/2019)
8.	Zhang, Liyun: 5 articles (01/2022 - 01/2019)
9.	Zhou, Jia: 5 articles (01/2022 - 01/2019)
10.	Eisen, Damon P: 5 articles (08/2014 - 06/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mannose-Binding Protein Deficiency:

1.	AutoantibodiesIBA 03/01/2013 - "We failed to confirm any correlation between MBL deficiency and serum autoantibodies or NOD2/CARD15 variants. " 02/01/2008 - "However, children with the biallelic variant genotype reflecting total MBL deficiency tested positive more frequently for > or =3 autoantibodies compared with children with another genotype (odds ratio = 6.0, 95% confidence interval 1.3-28; p = 0.013). " 04/01/2003 - "MBL deficiency is not a risk factor for SLE in women from the Canary Islands, but it is associated with lower prevalence of autoantibodies and with later age at disease onset and at SLE diagnosis." 02/01/2008 - "The association of the biallelic variant genotype with positivity for multiple autoantibodies suggests that intermolecular epitope spreading may be linked with impaired clearance of autoantigens as a result of MBL deficiency."
2.	Matrix Metalloproteinases (MMPs)IBA 05/17/2002 - "MMPs are likely to contribute to MBL deficiency in individuals with variant alleles and may also be involved in clearance of MBL and modulation of the host response in normal individuals." 05/17/2002 - "Mannose-binding lectin (MBL) mutants are susceptible to matrix metalloproteinase proteolysis: potential role in human MBL deficiency."
3.	AutoantigensIBA 02/01/2008 - "The association of the biallelic variant genotype with positivity for multiple autoantibodies suggests that intermolecular epitope spreading may be linked with impaired clearance of autoantigens as a result of MBL deficiency."
4.	EpitopesIBA 02/01/2008 - "The association of the biallelic variant genotype with positivity for multiple autoantibodies suggests that intermolecular epitope spreading may be linked with impaired clearance of autoantigens as a result of MBL deficiency."
5.	Mannose-Binding Lectin (Mannan-Binding Lectin)IBA 08/01/2005 - "The aim of this study was to investigate a possible role of mannose-binding lectin (MBL) deficiency and complement activation in TxCAD. " 03/01/2023 - "Thirty-two percent of children with mannose-binding lectin deficiency and 30% of those with mannose-binding lectin sufficiency had positive respiratory microbiology. " 01/01/2021 - "Reduced MBL (mannose-binding lectin) levels were found in 32% of ME/CFS patients, and MBL deficiency in 7%. " 07/01/2020 - "In MBL2 variant-type, mannose-binding lectin levels were significantly lower and incidences of mannose-binding lectin deficiency (MBL level<700ng/mL) were higher (p<0.001). " 04/21/2020 - "Mannose-binding lectin (MBL) deficiency is a common innate immune system deficiency, and is associated with exacerbations and increased colonization of some pathogens. "
6.	Complement System Proteins (Complement)IBA 12/01/2016 - "Genetic sequencing in 77 consecutive patients with IMN identified four patients with MBL2 promoter and coding region variations associated with MBL deficiency and the same complement pattern in immune deposits as the index patient. " 01/01/2016 - "Furthermore, cardiac patients with genotypes causing MBL deficiency presented less heart damage (P = 0.003, OR = 0.23), compared with cardiac patients having the XA haplotype causing low MBL levels, but fully capable of activating complement (P = 0.005, OR = 7.07). " 02/01/2011 - "These results indicate that while MBL deficiency results in a modest protection of a sub-cortical brain region during IR, redundant complement pathway activation may overwhelm further beneficial effects of MBL deficiency during reperfusion." 09/01/2004 - "Antibody-mediated activation of the classical pathway of complement may compensate for mannose-binding lectin deficiency." 02/01/2015 - "Complement immunodeficiencies (excluding hereditary angioedema and mannose binding lectin deficiency) are rare. "
7.	C-Reactive ProteinIBA 05/01/2001 - "MBL deficiency was associated with increased levels of C-reactive protein (CRP) and IgM rheumatoid factor (RF) at inclusion (p < 0.05). " 10/27/2023 - "This study aimed to evaluate the prognostic value of the inflammatory markers-C-reactive protein (CRP) and procalcitonin (PCT)-and the polymorphic glycoprotein mannose-binding lectin (MBL), deficiency of which is associated with severe infections, in the determination of the optimal type and timing of therapeutic intervention for CAP in childhood. "
8.	Chemokine CXCL2IBA 01/01/2019 - "Mechanistic studies established that MBL deficiency caused increased chemokine CXCL2 production from liver macrophages upon CCl4 stimulation, thereby promoting the hepatic recruitment of neutrophils and subsequent liver damage. "
9.	RNA (Ribonucleic Acid)IBA 05/01/2008 - "This study found no association between genetic variants that cause MBL deficiency and the presence of HCV RNA. " 05/01/2008 - "Unexpectedly, the MBL2 -289X promoter genotype, which causes MBL deficiency, was over-represented among European Americans who were HCV RNA negative (OR = 1.65, 95% CI 1.05-2.58), although not among the African Americans. " 05/01/2008 - "There was no significant association between any of the genetic variants that cause MBL deficiency and the presence of HCV RNA. "
10.	Phosphotransferases (Kinase)IBA 12/01/2021 - "Mechanistic studies established that MBL directly interacted with ER-resident chaperone immunoglobulin heavy chain binding protein (BiP), and MBL deficiency accelerated the separation of PKR-like ER kinase (PERK) from BiP during hepatic ER stress. "

Therapies and Procedures

1.	Therapeutics 08/01/2003 - "This suggests that substitution therapy with MBL might be a beneficial treatment of patients with MBL deficiency. " 05/01/2007 - "Substitution therapy with plasma-derived MBL is a promising treatment of diseases associated with MBL deficiency. " 10/01/2014 - "Restoration of MBL-deficiency: redefining the safety, efficacy and viability of MBL-substitution therapy." 01/01/2010 - "These findings demonstrated that MBL deficiency increases the susceptibility to RI in DS patients and that, in the future, they could potentially benefit from MBL therapy." 05/01/2008 - "MBL replacement therapy to help patients with MBL deficiency has undergone phase I clinical trials. "
2.	Drug Therapy (Chemotherapy) 09/01/2016 - "In this study, we investigated the association between MBL deficiency and invasive fungal disease (IFD) in hematologic malignancy patients receiving myelosuppressive chemotherapy or hematopoietic stem cell transplant. " 06/15/2007 - "MBL deficiency does not predispose adults with hematological cancer to more-frequent or more-prolonged febrile episodes during myelosuppressive chemotherapy, but MBL-deficient patients have a greater number of severe infections and experience their first severe infection earlier, compared with nondeficient patients."
3.	Peritoneal Dialysis 01/01/2016 - "This study did not find MBL deficiency in peritoneal dialysis patients as compared to the healthy individuals."
4.	Organ Transplantation 09/01/2007 - "To our knowledge, this is the first report of meningococcal disease after organ transplantation in a patient with MBL deficiency." 02/15/2007 - "MBL deficiency may be a significant risk factor for the development of CMV infection in kidney transplant recipients, suggesting a role for innate immunity in the control of CMV infection after organ transplantation." 02/15/2007 - "However, there is no data about the possible association between MBL deficiency and cytomegalovirus (CMV) infection, especially after organ transplantation. "
5.	Lung Transplantation 09/01/2011 - "Mannose-binding lectin deficiency linked to cytomegalovirus (CMV) reactivation and survival in lung transplantation." 02/01/2005 - "No correlation to reduced lung function or need for lung transplantation was seen, either for MBL deficiency, MASP-2 gene mutation or reduced MBL pathway function. "