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Defective B cell differentiation

MedGen UID:
347920
Concept ID:
C1859624
Finding
Synonym: Defective B-cell differentiation
 
HPO: HP:0005357

Definition

Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDefective B cell differentiation

Conditions with this feature

Ataxia-telangiectasia syndrome
MedGen UID:
439
Concept ID:
C0004135
Disease or Syndrome
Classic ataxia-telangiectasia (A-T) is characterized by progressive cerebellar ataxia beginning between ages one and four years, oculomotor apraxia, choreoathetosis, telangiectasias of the conjunctivae, immunodeficiency, frequent infections, and an increased risk for malignancy, particularly leukemia and lymphoma. Individuals with A-T are unusually sensitive to ionizing radiation. Non-classic forms of A-T have included adult-onset A-T and A-T with early-onset dystonia.
Immunodeficiency, common variable, 14
MedGen UID:
1614928
Concept ID:
C4540380
Disease or Syndrome

Professional guidelines

PubMed

Vorstenbosch J, Chu JJ, Ariyan CE, McCarthy CM, Disa JJ, Nelson JA
Plast Reconstr Surg 2023 Jan 1;151(1):20e-30e. Epub 2022 Oct 4 doi: 10.1097/PRS.0000000000009780. PMID: 36194076Free PMC Article
Chinen J, Cowan MJ
J Allergy Clin Immunol 2018 Oct;142(4):1041-1051. Epub 2018 Aug 29 doi: 10.1016/j.jaci.2018.08.016. PMID: 30170128Free PMC Article
Yazdani R, Azizi G, Abolhassani H, Aghamohammadi A
Scand J Immunol 2017 Jan;85(1):3-12. doi: 10.1111/sji.12499. PMID: 27763681

Recent clinical studies

Etiology

Olguin-Calderón D, Velásquez-Ortiz MG, Huerta-Robles HMR, López-Herrera G, Segura-Méndez NH, O'Farrill-Romanillos P, Scheffler-Mendoza S, Yamazaki-Nakashimada MA, García-Cruz ML, Espinosa-Padilla SE, Staines-Boone TA, Santos-Argumedo L, Berrón-Ruiz L
Hum Immunol 2022 May;83(5):428-436. Epub 2022 Feb 15 doi: 10.1016/j.humimm.2022.01.013. PMID: 35177260
Chun JK, Lee TJ, Song JW, Linton JA, Kim DS
Yonsei Med J 2008 Feb 29;49(1):28-36. doi: 10.3349/ymj.2008.49.1.28. PMID: 18306466Free PMC Article

Diagnosis

Hsieh CH, Lee J, Sung HH, Huang YF, Ding YS, Li CY, Yen CL, Hsu CK, Yu CK, Hsieh HY, Hughes MW, Chen PC, Shieh CC
Clin Immunol 2023 Dec;257:109855. Epub 2023 Nov 28 doi: 10.1016/j.clim.2023.109855. PMID: 38036278
Yaz I, Ozbek B, Ng YY, Cetinkaya PG, Halacli SO, Tan C, Kasikci M, Kosukcu C, Tezcan I, Cagdas D
J Clin Immunol 2020 Apr;40(3):494-502. Epub 2020 Feb 14 doi: 10.1007/s10875-020-00761-2. PMID: 32056073
Chun JK, Lee TJ, Song JW, Linton JA, Kim DS
Yonsei Med J 2008 Feb 29;49(1):28-36. doi: 10.3349/ymj.2008.49.1.28. PMID: 18306466Free PMC Article

Prognosis

Illig D, Navratil M, Kelečić J, Conca R, Hojsak I, Jadrešin O, Ćorić M, Vuković J, Rohlfs M, Hollizeck S, Bohne J, Klein C, Kotlarz D
J Clin Immunol 2019 Feb;39(2):207-215. Epub 2019 Mar 21 doi: 10.1007/s10875-019-00606-7. PMID: 30903457
Chun JK, Lee TJ, Song JW, Linton JA, Kim DS
Yonsei Med J 2008 Feb 29;49(1):28-36. doi: 10.3349/ymj.2008.49.1.28. PMID: 18306466Free PMC Article

Clinical prediction guides

Olguin-Calderón D, Velásquez-Ortiz MG, Huerta-Robles HMR, López-Herrera G, Segura-Méndez NH, O'Farrill-Romanillos P, Scheffler-Mendoza S, Yamazaki-Nakashimada MA, García-Cruz ML, Espinosa-Padilla SE, Staines-Boone TA, Santos-Argumedo L, Berrón-Ruiz L
Hum Immunol 2022 May;83(5):428-436. Epub 2022 Feb 15 doi: 10.1016/j.humimm.2022.01.013. PMID: 35177260
Illig D, Navratil M, Kelečić J, Conca R, Hojsak I, Jadrešin O, Ćorić M, Vuković J, Rohlfs M, Hollizeck S, Bohne J, Klein C, Kotlarz D
J Clin Immunol 2019 Feb;39(2):207-215. Epub 2019 Mar 21 doi: 10.1007/s10875-019-00606-7. PMID: 30903457
MacLean GA, McEldoon J, Huang J, Allred J, Canver MC, Orkin SH
Sci Rep 2018 May 22;8(1):8001. doi: 10.1038/s41598-018-26123-y. PMID: 29789608Free PMC Article
Chun JK, Lee TJ, Song JW, Linton JA, Kim DS
Yonsei Med J 2008 Feb 29;49(1):28-36. doi: 10.3349/ymj.2008.49.1.28. PMID: 18306466Free PMC Article

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