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Abnormality of B cell physiology

MedGen UID:
341411
Concept ID:
C1849242
Finding
Synonym: Reduced B cell function
 
HPO: HP:0005372

Definition

An abnormality of the physiological functioning of B cells. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of B cell physiology

Conditions with this feature

Purine-nucleoside phosphorylase deficiency
MedGen UID:
75653
Concept ID:
C0268125
Disease or Syndrome
Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly by decreased T-cell function. Some patients also have neurologic impairment (review by Aust et al., 1992).
T-B+ severe combined immunodeficiency due to JAK3 deficiency
MedGen UID:
331474
Concept ID:
C1833275
Disease or Syndrome
JAK3-deficient severe combined immunodeficiency (SCID) is an inherited disorder of the immune system. Individuals with JAK3-deficient SCID lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with JAK3-deficient SCID are described as opportunistic because they ordinarily do not cause illness in healthy people. Affected infants typically develop chronic diarrhea, a fungal infection in the mouth called oral thrush, pneumonia, and skin rashes. Persistent illness also causes affected individuals to grow more slowly than other children. Without treatment, people with JAK3-deficient SCID usually live only into early childhood.

Professional guidelines

PubMed

Albinger N, Pfeifer R, Nitsche M, Mertlitz S, Campe J, Stein K, Kreyenberg H, Schubert R, Quadflieg M, Schneider D, Kühn MWM, Penack O, Zhang C, Möker N, Ullrich E
Blood Cancer J 2022 Apr 13;12(4):61. doi: 10.1038/s41408-022-00660-2. PMID: 35418180Free PMC Article
Wu F, Gao J, Kang J, Wang X, Niu Q, Liu J, Zhang L
Front Immunol 2021;12:750753. Epub 2021 Sep 28 doi: 10.3389/fimmu.2021.750753. PMID: 34650569Free PMC Article
Jonsson R, Brokstad KA, Jonsson MV, Delaleu N, Skarstein K
Eur J Oral Sci 2018 Oct;126 Suppl 1(Suppl Suppl 1):37-48. doi: 10.1111/eos.12536. PMID: 30178554Free PMC Article

Recent clinical studies

Etiology

Wu F, Gao J, Kang J, Wang X, Niu Q, Liu J, Zhang L
Front Immunol 2021;12:750753. Epub 2021 Sep 28 doi: 10.3389/fimmu.2021.750753. PMID: 34650569Free PMC Article
Barrow F, Khan S, Wang H, Revelo XS
Hepatology 2021 Oct;74(4):2277-2286. Epub 2021 Jun 18 doi: 10.1002/hep.31889. PMID: 33961302Free PMC Article
Wang J, Xu Y, Chen Z, Liang J, Lin Z, Liang H, Xu Y, Wu Q, Guo X, Nie J, Lu B, Huang B, Xian H, Wang X, Wu Q, Zeng J, Chai C, Zhang M, Lin Y, Zhang L, Zhao S, Tong Y, Zeng L, Gu X, Chen ZG, Yi S, Zhang T, Delfouneso D, Zhang Y, Nutt SL, Lew AM, Lu L, Bai F, Xia H, Wen Z, Zhang Y
Cell 2020 Dec 23;183(7):1867-1883.e26. Epub 2020 Nov 27 doi: 10.1016/j.cell.2020.10.048. PMID: 33248023
Yap DYH, Chan TM
Int J Mol Sci 2019 Dec 10;20(24) doi: 10.3390/ijms20246231. PMID: 31835612Free PMC Article
Mullighan CG, Su X, Zhang J, Radtke I, Phillips LA, Miller CB, Ma J, Liu W, Cheng C, Schulman BA, Harvey RC, Chen IM, Clifford RJ, Carroll WL, Reaman G, Bowman WP, Devidas M, Gerhard DS, Yang W, Relling MV, Shurtleff SA, Campana D, Borowitz MJ, Pui CH, Smith M, Hunger SP, Willman CL, Downing JR; Children's Oncology Group
N Engl J Med 2009 Jan 29;360(5):470-80. Epub 2009 Jan 7 doi: 10.1056/NEJMoa0808253. PMID: 19129520Free PMC Article

Diagnosis

Baxter RM, Wang CS, Garcia-Perez JE, Kong DS, Coleman BM, Larchenko V, Schuyler RP, Jackson C, Ghosh T, Rudra P, Paul D, Claassen M, Rochford R, Cambier JC, Ghosh D, Cooper JC, Smith MJ, Hsieh EWY
Front Immunol 2023;14:1208282. Epub 2023 Oct 27 doi: 10.3389/fimmu.2023.1208282. PMID: 37965329Free PMC Article
Luca DC
Clin Lab Med 2021 Sep;41(3):405-416. doi: 10.1016/j.cll.2021.04.003. PMID: 34304772
Elton TS, Selemon H, Elton SM, Parinandi NL
Gene 2013 Dec 10;532(1):1-12. Epub 2012 Dec 14 doi: 10.1016/j.gene.2012.12.009. PMID: 23246696
Mullighan CG, Su X, Zhang J, Radtke I, Phillips LA, Miller CB, Ma J, Liu W, Cheng C, Schulman BA, Harvey RC, Chen IM, Clifford RJ, Carroll WL, Reaman G, Bowman WP, Devidas M, Gerhard DS, Yang W, Relling MV, Shurtleff SA, Campana D, Borowitz MJ, Pui CH, Smith M, Hunger SP, Willman CL, Downing JR; Children's Oncology Group
N Engl J Med 2009 Jan 29;360(5):470-80. Epub 2009 Jan 7 doi: 10.1056/NEJMoa0808253. PMID: 19129520Free PMC Article
Fermand JP, Brouet JC
Hematol Oncol Clin North Am 1999 Dec;13(6):1281-94. doi: 10.1016/s0889-8588(05)70127-1. PMID: 10626151

Therapy

Cencioni MT, Mattoscio M, Magliozzi R, Bar-Or A, Muraro PA
Nat Rev Neurol 2021 Jul;17(7):399-414. Epub 2021 Jun 1 doi: 10.1038/s41582-021-00498-5. PMID: 34075251
Wang J, Xu Y, Chen Z, Liang J, Lin Z, Liang H, Xu Y, Wu Q, Guo X, Nie J, Lu B, Huang B, Xian H, Wang X, Wu Q, Zeng J, Chai C, Zhang M, Lin Y, Zhang L, Zhao S, Tong Y, Zeng L, Gu X, Chen ZG, Yi S, Zhang T, Delfouneso D, Zhang Y, Nutt SL, Lew AM, Lu L, Bai F, Xia H, Wen Z, Zhang Y
Cell 2020 Dec 23;183(7):1867-1883.e26. Epub 2020 Nov 27 doi: 10.1016/j.cell.2020.10.048. PMID: 33248023
Yap DYH, Chan TM
Int J Mol Sci 2019 Dec 10;20(24) doi: 10.3390/ijms20246231. PMID: 31835612Free PMC Article
Kubo K, Yamamoto K
Int J Rheum Dis 2016 Aug;19(8):747-62. Epub 2015 Aug 10 doi: 10.1111/1756-185X.12586. PMID: 26259069
Gupta V, Kumar A
Adv Exp Med Biol 2010;685:215-9. doi: 10.1007/978-1-4419-6448-9_20. PMID: 20687509

Prognosis

Baxter RM, Wang CS, Garcia-Perez JE, Kong DS, Coleman BM, Larchenko V, Schuyler RP, Jackson C, Ghosh T, Rudra P, Paul D, Claassen M, Rochford R, Cambier JC, Ghosh D, Cooper JC, Smith MJ, Hsieh EWY
Front Immunol 2023;14:1208282. Epub 2023 Oct 27 doi: 10.3389/fimmu.2023.1208282. PMID: 37965329Free PMC Article
Luca DC
Clin Lab Med 2021 Sep;41(3):405-416. doi: 10.1016/j.cll.2021.04.003. PMID: 34304772
Meng X, Min Q, Wang JY
Adv Exp Med Biol 2020;1254:161-181. doi: 10.1007/978-981-15-3532-1_12. PMID: 32323276
Baliakas P, Jeromin S, Iskas M, Puiggros A, Plevova K, Nguyen-Khac F, Davis Z, Rigolin GM, Visentin A, Xochelli A, Delgado J, Baran-Marszak F, Stalika E, Abrisqueta P, Durechova K, Papaioannou G, Eclache V, Dimou M, Iliakis T, Collado R, Doubek M, Calasanz MJ, Ruiz-Xiville N, Moreno C, Jarosova M, Leeksma AC, Panayiotidis P, Podgornik H, Cymbalista F, Anagnostopoulos A, Trentin L, Stavroyianni N, Davi F, Ghia P, Kater AP, Cuneo A, Pospisilova S, Espinet B, Athanasiadou A, Oscier D, Haferlach C, Stamatopoulos K; ERIC, the European Research Initiative on CLL
Blood 2019 Mar 14;133(11):1205-1216. Epub 2019 Jan 2 doi: 10.1182/blood-2018-09-873083. PMID: 30602617Free PMC Article
Mullighan CG, Su X, Zhang J, Radtke I, Phillips LA, Miller CB, Ma J, Liu W, Cheng C, Schulman BA, Harvey RC, Chen IM, Clifford RJ, Carroll WL, Reaman G, Bowman WP, Devidas M, Gerhard DS, Yang W, Relling MV, Shurtleff SA, Campana D, Borowitz MJ, Pui CH, Smith M, Hunger SP, Willman CL, Downing JR; Children's Oncology Group
N Engl J Med 2009 Jan 29;360(5):470-80. Epub 2009 Jan 7 doi: 10.1056/NEJMoa0808253. PMID: 19129520Free PMC Article

Clinical prediction guides

Robinson GA, Wilkinson MGL, Wincup C
Front Immunol 2021;12:806560. Epub 2022 Jan 26 doi: 10.3389/fimmu.2021.806560. PMID: 35154082Free PMC Article
Wang J, Xu Y, Chen Z, Liang J, Lin Z, Liang H, Xu Y, Wu Q, Guo X, Nie J, Lu B, Huang B, Xian H, Wang X, Wu Q, Zeng J, Chai C, Zhang M, Lin Y, Zhang L, Zhao S, Tong Y, Zeng L, Gu X, Chen ZG, Yi S, Zhang T, Delfouneso D, Zhang Y, Nutt SL, Lew AM, Lu L, Bai F, Xia H, Wen Z, Zhang Y
Cell 2020 Dec 23;183(7):1867-1883.e26. Epub 2020 Nov 27 doi: 10.1016/j.cell.2020.10.048. PMID: 33248023
Moorman AV
Haematologica 2016 Apr;101(4):407-16. doi: 10.3324/haematol.2015.141101. PMID: 27033238Free PMC Article
Ekö SL, van Vollenhoven RF
Curr Rheumatol Rep 2014;16(9):444. doi: 10.1007/s11926-014-0444-5. PMID: 25074032
Mullighan CG, Su X, Zhang J, Radtke I, Phillips LA, Miller CB, Ma J, Liu W, Cheng C, Schulman BA, Harvey RC, Chen IM, Clifford RJ, Carroll WL, Reaman G, Bowman WP, Devidas M, Gerhard DS, Yang W, Relling MV, Shurtleff SA, Campana D, Borowitz MJ, Pui CH, Smith M, Hunger SP, Willman CL, Downing JR; Children's Oncology Group
N Engl J Med 2009 Jan 29;360(5):470-80. Epub 2009 Jan 7 doi: 10.1056/NEJMoa0808253. PMID: 19129520Free PMC Article

Recent systematic reviews

Maccora I, Ramanan AV, Wiseman D, Marrani E, Mastrolia MV, Simonini G
J Clin Immunol 2023 Jan;43(1):1-30. Epub 2022 Aug 19 doi: 10.1007/s10875-022-01343-0. PMID: 35984545Free PMC Article
Zhao J, An Q, Zhu X, Yang B, Gao X, Niu Y, Zhang L, Xu K, Ma D
Stem Cell Res Ther 2022 Jun 3;13(1):230. doi: 10.1186/s13287-022-02912-1. PMID: 35659085Free PMC Article
Regazzo G, Marchesi F, Spagnuolo M, Díaz Méndez AB, Masi S, Mengarelli A, Rizzo MG
Blood Rev 2021 May;47:100776. Epub 2020 Nov 10 doi: 10.1016/j.blre.2020.100776. PMID: 33229139
Phan M, Conte F, Khandelwal KD, Ockeloen CW, Bartzela T, Kleefstra T, van Bokhoven H, Rubini M, Zhou H, Carels CE
Hum Genet 2016 Dec;135(12):1299-1327. Epub 2016 Oct 3 doi: 10.1007/s00439-016-1733-z. PMID: 27699475Free PMC Article
Parikh SA, Strati P, Tsang M, West CP, Shanafelt TD
Blood 2016 Apr 7;127(14):1752-60. Epub 2016 Feb 3 doi: 10.1182/blood-2015-10-620864. PMID: 26841802

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