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Mannose-binding protein deficiency(MBLD)

MedGen UID:
482216
Concept ID:
C3280586
Disease or Syndrome
Synonyms: LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 1; MANNOSE-BINDING LECTIN DEFICIENCY; MBL DEFICIENCY; MBL2 DEFICIENCY; MBLD; MBP DEFICIENCY
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Mannose-binding protein deficiency (703538003); MBL2 deficiency (703538003); MBP deficiency (703538003); Mannose-binding lectin protein deficiency (703538003); MBL deficiency (703538003); Mannose-binding lectin deficiency (703538003)
 
Gene (location): MBL2 (10q21.1)
OMIM®: 614372

Definition

Mannose-binding lectin (MBL) deficiency, defined as MBL protein level of less than 100 ng/ml, is present 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 (review by Degn et al., 2011). MBL is a soluble molecule that can activate the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system (summary by Garcia-Laorden et al., 2008). Genetic Heterogeneity of Lectin Complement Activation Pathway Defects See also LCAPD2 (613791), caused by variation in the MASP2 gene (605102) on chromosome 1p36, and LCAPD3 (613860), caused by variation in the FCN3 gene (604973) on chromosome 1p36. [from OMIM]

Additional description

From GHR
Mannose-binding lectin deficiency is a condition that affects the immune system. People with this condition have low levels (deficiency) of an immune system protein called mannose-binding lectin in their blood. Whether this deficiency makes affected individuals prone to recurrent infections is not clear.People with mannose-binding lectin deficiency can develop infections of the upper respiratory tract and other body systems. Individuals with this condition may also contract more serious infections such as pneumonia and meningitis. Depending on the type of infection, the symptoms caused by the infections vary in frequency and severity.Infants and young children with mannose-binding lectin deficiency seem to be more susceptible to infections than affected adults, but adults can also develop recurrent infections. In addition, affected individuals undergoing chemotherapy or taking drugs that suppress the immune system are especially prone to infections.  https://ghr.nlm.nih.gov/condition/mannose-binding-lectin-deficiency

Recent clinical studies

Etiology

Høiland II, Liang RA, Hindberg K, Latysheva N, Brekke OL, Mollnes TE, Hansen JB
Thromb Res 2018 Sep;169:50-56. Epub 2018 Jun 30 doi: 10.1016/j.thromres.2018.06.019. PMID: 30015228
Koucký M, Malíčková K, Kopřivová H, Cindrová-Davies T, Hrbáčková H, Černý A, Šimják P, Pařízek A, Zima T
Scand J Immunol 2018 Jul;88(1):e12675. doi: 10.1111/sji.12675. PMID: 29758096
Dicker AJ, Crichton ML, Cassidy AJ, Brady G, Hapca A, Tavendale R, Einarsson GG, Furrie E, Elborn JS, Schembri S, Marshall SE, Palmer CNA, Chalmers JD
Thorax 2018 Jun;73(6):510-518. Epub 2017 Nov 3 doi: 10.1136/thoraxjnl-2016-209931. PMID: 29101284Free PMC Article
Cieslinski JZ, Goeldner I, Skare TL, Nisihara R, Andrade FA, Velavan TP, Messias-Reason I, Utiyama SRR
Autoimmunity 2017 Nov;50(7):409-413. Epub 2017 Sep 12 doi: 10.1080/08916934.2017.1373765. PMID: 28898115
Bellamy R, Ruwende C, McAdam KP, Thursz M, Sumiya M, Summerfield J, Gilbert SC, Corrah T, Kwiatkowski D, Whittle HC, Hill AV
QJM 1998 Jan;91(1):13-8. PMID: 9519208

Diagnosis

Koucký M, Malíčková K, Kopřivová H, Cindrová-Davies T, Hrbáčková H, Černý A, Šimják P, Pařízek A, Zima T
Scand J Immunol 2018 Jul;88(1):e12675. doi: 10.1111/sji.12675. PMID: 29758096
Schend J, Doll R, Sandhu M, Rodgers M, Hostoffer R
Ann Allergy Asthma Immunol 2018 Feb;120(2):222-223. Epub 2017 Nov 20 doi: 10.1016/j.anai.2017.10.017. PMID: 29162315
Apostolou A, Kerenidi T, Michopoulos A, Gourgoulianis KI, Noutsias M, Germenis AE, Speletas M
Herz 2017 Dec;42(8):752-757. Epub 2016 Dec 1 doi: 10.1007/s00059-016-4510-9. PMID: 27909766
Rashidi E, Fazlollahi MR, Zahedifard S, Talebzadeh A, Kazemnejad A, Saghafi S, Pourpak Z
Iran J Allergy Asthma Immunol 2016 Feb;15(1):69-74. PMID: 26996114
Justice JM, Sleasman JW, Lanza DC
Ann Otol Rhinol Laryngol 2015 Feb;124(2):102-6. Epub 2014 Jul 25 doi: 10.1177/0003489414543680. PMID: 25063683

Therapy

Carroll GJ, Makin K, Garnsey M, Bulsara M, Carroll BV, Curtin SM, Allan EM, McLean-Tooke A, Bundell C, Kemp ML, Deshpande P, Ihdayhid D, Coleman S, Easter T, Triplett J, Disteldorf T, Marsden CH, Lucas M
J Allergy Clin Immunol Pract 2017 Nov - Dec;5(6):1609-1616. Epub 2017 Jun 19 doi: 10.1016/j.jaip.2017.02.025. PMID: 28634103
van de Vosse E, van Ostaijen-Ten Dam MM, Vermaire R, Verhard EM, Waaijer JL, Bakker JA, Bernards ST, Eibel H, van Tol MJ, van Dissel JT, Haverkamp MH
Clin Immunol 2017 Jul;180:111-119. Epub 2017 May 6 doi: 10.1016/j.clim.2017.05.008. PMID: 28487087
Apostolou A, Kerenidi T, Michopoulos A, Gourgoulianis KI, Noutsias M, Germenis AE, Speletas M
Herz 2017 Dec;42(8):752-757. Epub 2016 Dec 1 doi: 10.1007/s00059-016-4510-9. PMID: 27909766
Radnay ZB, Udvardy M, Papp M, Hársfalvi J, Rejto L, Pál I, Illés Á, Kiss A
Transplant Proc 2016 Dec;48(10):3397-3405. doi: 10.1016/j.transproceed.2016.08.041. PMID: 27931588
Pągowska-Klimek I, Świerzko AS, Michalski M, Moll M, Szala-Poździej A, Sokołowska A, Krajewski WR, Cedzyński M
Immunobiology 2016 Feb;221(2):175-81. Epub 2015 Sep 8 doi: 10.1016/j.imbio.2015.09.010. PMID: 26382056

Prognosis

Guo WY, Zhu L, Meng SJ, Shi SF, Liu LJ, Lv JC, Zhang H
J Am Soc Nephrol 2017 Nov;28(11):3175-3181. Epub 2017 Jul 11 doi: 10.1681/ASN.2017010076. PMID: 28698271Free PMC Article
Apostolou A, Kerenidi T, Michopoulos A, Gourgoulianis KI, Noutsias M, Germenis AE, Speletas M
Herz 2017 Dec;42(8):752-757. Epub 2016 Dec 1 doi: 10.1007/s00059-016-4510-9. PMID: 27909766
Radnay ZB, Udvardy M, Papp M, Hársfalvi J, Rejto L, Pál I, Illés Á, Kiss A
Transplant Proc 2016 Dec;48(10):3397-3405. doi: 10.1016/j.transproceed.2016.08.041. PMID: 27931588
Zinyama-Gutsire RB, Christiansen M, Hedley PL, Rusakaniko S, Hagen C, Stray-Pedersen B, Buzdugan R, Cowan F, Chasela C
OMICS 2016 Jul;20(7):433-41. Epub 2016 Jun 17 doi: 10.1089/omi.2016.0056. PMID: 27315016
Zinyama-Gutsire RB, Chasela C, Kallestrup P, Rusakaniko S, Christiansen M, Ngara B, Gomo E, Ullum H, Erikstrup C, Madsen HO, Stray-Pedersen B, Garred P, Mduluza T
OMICS 2015 Sep;19(9):542-52. doi: 10.1089/omi.2015.0047. PMID: 26348711Free PMC Article

Clinical prediction guides

Høiland II, Liang RA, Hindberg K, Latysheva N, Brekke OL, Mollnes TE, Hansen JB
Thromb Res 2018 Sep;169:50-56. Epub 2018 Jun 30 doi: 10.1016/j.thromres.2018.06.019. PMID: 30015228
Guo WY, Zhu L, Meng SJ, Shi SF, Liu LJ, Lv JC, Zhang H
J Am Soc Nephrol 2017 Nov;28(11):3175-3181. Epub 2017 Jul 11 doi: 10.1681/ASN.2017010076. PMID: 28698271Free PMC Article
Carroll GJ, Makin K, Garnsey M, Bulsara M, Carroll BV, Curtin SM, Allan EM, McLean-Tooke A, Bundell C, Kemp ML, Deshpande P, Ihdayhid D, Coleman S, Easter T, Triplett J, Disteldorf T, Marsden CH, Lucas M
J Allergy Clin Immunol Pract 2017 Nov - Dec;5(6):1609-1616. Epub 2017 Jun 19 doi: 10.1016/j.jaip.2017.02.025. PMID: 28634103
Skare TL, Nisihara R, Cieslinski JZ, Zeni JO, Rasera HN, Messias-Reason I, Utiyama SR
Immunol Invest 2017 Feb;46(2):183-189. Epub 2016 Dec 2 doi: 10.1080/08820139.2016.1237525. PMID: 27911110
Radnay ZB, Udvardy M, Papp M, Hársfalvi J, Rejto L, Pál I, Illés Á, Kiss A
Transplant Proc 2016 Dec;48(10):3397-3405. doi: 10.1016/j.transproceed.2016.08.041. PMID: 27931588

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