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LuLu phenotype

MedGen UID:
220951
Concept ID:
C1292230
Finding
Synonyms: Lutheran null; RECESSIVE LU (a-b-) PHENOTYPE
SNOMED CT: LuLu phenotype (115823009); Recessive Lu(a-b-) phenotype (115823009)
 
Gene (location): BCAM (19q13.32)
 
OMIM®: 247420

Definition

Autosomal recessive inheritance of the Lutheran null blood group phenotype is extremely rare, and has been reported in only 5 individuals. There is no obvious associated clinical or hematologic pathology, and all patients have been identified through identification of anti-Lu3 antibodies in their serum (Karamatic Crew et al., 2007). The Lutheran inhibitor blood group phenotype (In(Lu); 111150) is characterized phenotypically by the apparent absence of the Lu antigen on red blood cells during serologic tests, i.e. Lu(a-b-). Since it is inherited as an autosomal dominant trait, it was initially postulated to result from an inhibitor of the Lu antigen. However, Singleton et al. (2008) found that the phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene. These 2 forms of Lutheran absence on red blood cells can be differentiated both by the pedigree and by serologic studies. An X-linked recessive form (309050) has been rarely reported. [from OMIM]

Recent clinical studies

Etiology

Li B, Yang Z, Liu Y, Zhou X, Wang W, Gao Z, Yan L, Qin G, Tang X, Wan Q, Chen L, Luo Z, Ning G, Gu W, Mu Y
J Diabetes 2024 Aug;16(8):e13596. doi: 10.1111/1753-0407.13596. PMID: 39136497Free PMC Article
Jing W, Tuxiu X, Xiaobing L, Guijun J, Lulu K, Jie J, Lu Y, Liying Z, Xiaoxing X, Jingjun L
Front Immunol 2021;12:790750. Epub 2022 Jan 11 doi: 10.3389/fimmu.2021.790750. PMID: 35087519Free PMC Article
Unni PA, Lulu SS, Pillai GG
Life Sci 2020 Jun 1;250:117602. Epub 2020 Mar 30 doi: 10.1016/j.lfs.2020.117602. PMID: 32240677
Tremlett H, Fadrosh DW, Faruqi AA, Hart J, Roalstad S, Graves J, Lynch S, Waubant E; US Network of Pediatric MS Centers
J Neurol Sci 2016 Apr 15;363:153-7. Epub 2016 Feb 20 doi: 10.1016/j.jns.2016.02.042. PMID: 27000242Free PMC Article
Shaw MA, Leak MR, Daniels GL, Tippett P
Ann Hum Genet 1984 Jul;48(3):229-37. doi: 10.1111/j.1469-1809.1984.tb01019.x. PMID: 6465841

Diagnosis

Li B, Yang Z, Liu Y, Zhou X, Wang W, Gao Z, Yan L, Qin G, Tang X, Wan Q, Chen L, Luo Z, Ning G, Gu W, Mu Y
J Diabetes 2024 Aug;16(8):e13596. doi: 10.1111/1753-0407.13596. PMID: 39136497Free PMC Article
Tremlett H, Fadrosh DW, Faruqi AA, Hart J, Roalstad S, Graves J, Lynch S, Waubant E; US Network of Pediatric MS Centers
J Neurol Sci 2016 Apr 15;363:153-7. Epub 2016 Feb 20 doi: 10.1016/j.jns.2016.02.042. PMID: 27000242Free PMC Article

Prognosis

Liang M, Li JW, Luo H, Lulu S, Calbay O, Shenoy A, Tan M, Law BK, Huang S, Xiao TS, Chen H, Wu L, Chang J, Lu J
Cells 2022 Jul 15;11(14) doi: 10.3390/cells11142208. PMID: 35883651Free PMC Article
Unni PA, Lulu SS, Pillai GG
Life Sci 2020 Jun 1;250:117602. Epub 2020 Mar 30 doi: 10.1016/j.lfs.2020.117602. PMID: 32240677
Tremlett H, Fadrosh DW, Faruqi AA, Hart J, Roalstad S, Graves J, Lynch S, Waubant E; US Network of Pediatric MS Centers
J Neurol Sci 2016 Apr 15;363:153-7. Epub 2016 Feb 20 doi: 10.1016/j.jns.2016.02.042. PMID: 27000242Free PMC Article

Clinical prediction guides

Unni PA, Lulu SS, Pillai GG
Life Sci 2020 Jun 1;250:117602. Epub 2020 Mar 30 doi: 10.1016/j.lfs.2020.117602. PMID: 32240677
Ferguson DJ, Gaal HD
Transfusion 1988 Sep-Oct;28(5):479-82. doi: 10.1046/j.1537-2995.1988.28588337342.x. PMID: 3420678
Shaw MA, Leak MR, Daniels GL, Tippett P
Ann Hum Genet 1984 Jul;48(3):229-37. doi: 10.1111/j.1469-1809.1984.tb01019.x. PMID: 6465841

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