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Increased proportion of transitional B cells

MedGen UID:
892766
Concept ID:
C4072920
Finding
Synonym: Increased transitional B cell count
 
HPO: HP:0030381

Definition

An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased proportion of transitional B cells

Conditions with this feature

Immunodeficiency 14
MedGen UID:
811535
Concept ID:
C3714976
Disease or Syndrome
Activated PI3K-delta syndrome (also known as APDS) is a disorder that impairs the immune system. Individuals with this condition often have low numbers of white blood cells (lymphopenia), particularly B cells and T cells. Normally, these cells recognize and attack foreign invaders, such as viruses and bacteria, to prevent infection. The severity of activated PI3K-delta syndrome varies widely. Some people may have multiple, severe infections while others show mild symptoms to none at all.\n\nMost commonly, people with activated PI3K-delta syndrome develop recurrent infections that begin in childhood, particularly in the lungs, sinuses, and ears. Over time, recurrent respiratory tract infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems. People with activated PI3K-delta syndrome may also have chronic active viral infections, such as Epstein-Barr virus, herpes simplex virus, or cytomegalovirus infections.\n\nAnother possible feature of activated PI3K-delta syndrome is abnormal clumping of white blood cells. These clumps can lead to enlarged lymph nodes (lymphadenopathy) or an enlarged spleen (splenomegaly). The white blood cells can also build up to form solid masses (nodular lymphoid hyperplasia), usually in the moist lining of the airways or intestines. While nodular lymphoid hyperplasia is not cancerous (benign), activated PI3K-delta syndrome increases the risk of developing forms of blood cancer called Hodgkin lymphoma and non-Hodgkin lymphoma.\n\nThere are two types of activated PI3K-delta syndrome, each with different genetic causes.\n\nSome people with activated PI3K-delta syndrome develop autoimmunity, which occurs when the body attacks its own tissues and organs by mistake.
Immunodeficiency 36
MedGen UID:
863371
Concept ID:
C4014934
Disease or Syndrome
Immunodeficiency-36 with lymphoproliferation (IMD36) is an autosomal dominant primary immunodeficiency with a highly heterogeneous clinical phenotype, characterized primarily by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency. Other features include growth retardation, mild neurodevelopmental delay, and autoimmunity. The major complication is development of B-cell lymphoma (Elkaim et al., 2016).
Immunodeficiency 62
MedGen UID:
1673905
Concept ID:
C5193109
Disease or Syndrome
Immunodeficiency-62 (IMD62) is an autosomal recessive primary immunologic disorder clinically characterized by onset of recurrent upper and lower respiratory infections late in the first decade of life. Patients may also have increased viral susceptibility to varicella zoster virus (VZV) or herpes simplex virus (HSV). Laboratory studies show impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies. There is also evidence of secondary T-cell dysfunction. The disorder may result from disturbed actin cytoskeleton dynamics causing impaired lymphocyte migration (summary by Bouafia et al., 2019).

Recent clinical studies

Etiology

Chalise JP, Ehsani A, Lemecha M, Hung YW, Zhang G, Larson GP, Itakura K
Front Immunol 2023;14:1170475. Epub 2023 Jul 7 doi: 10.3389/fimmu.2023.1170475. PMID: 37483604Free PMC Article
Jain H, Sengar M, Goli VB, Thorat J, Tembhare P, Shetty D, Bonda VNA, Nayak L, Subramanian PG, Bagal B, Patkar N, Sharma N, Gupta H, Gujral S
Blood Adv 2021 Sep 14;5(17):3436-3444. doi: 10.1182/bloodadvances.2020003368. PMID: 34461632Free PMC Article
Cardoso CC, Matiollo C, Pereira CHJ, Fonseca JS, Alves HEL, Silva OMD, Menegassi VS, Schiavon LL, Santos-Silva MC
Clin Res Hepatol Gastroenterol 2021 Jul;45(4):101698. Epub 2021 Apr 20 doi: 10.1016/j.clinre.2021.101698. PMID: 33852953
Girard MC, Acevedo GR, Ossowski MS, Fernández M, Hernández Y, Chadi R, Gómez KA
Sci Rep 2021 Mar 9;11(1):5511. doi: 10.1038/s41598-021-84765-x. PMID: 33750870Free PMC Article
Simonin L, Pasquier E, Leroyer C, Cornec D, Lemerle J, Bendaoud B, Hillion S, Pers JO, Couturaud F, Renaudineau Y
Clin Rev Allergy Immunol 2017 Aug;53(1):14-27. doi: 10.1007/s12016-016-8568-1. PMID: 27342459

Diagnosis

Peng L, Jin X, Li BY, Zeng X, Liao BH, Jin T, Chen JW, Gao XS, Wang W, He Q, Chen G, Gong LN, Shen H, Wang KJ, Li H, Luo DY
Signal Transduct Target Ther 2022 May 20;7(1):161. doi: 10.1038/s41392-022-00962-8. PMID: 35589692Free PMC Article
Wilbrink R, Spoorenberg A, Arends S, van der Geest KSM, Brouwer E, Bootsma H, Kroese FGM, Verstappen GM
Front Immunol 2021;12:686273. Epub 2021 Jun 8 doi: 10.3389/fimmu.2021.686273. PMID: 34168654Free PMC Article
Ye Q, Zhou C, Li S, Wang J, Liu F, Liu Z, Mao J, Fu H
Sci Rep 2021 Jun 22;11(1):13083. doi: 10.1038/s41598-021-92573-6. PMID: 34158604Free PMC Article
Elmér E, Smargianaki S, Pettersson Å, Skattum L, Ohlsson S, Hellmark T, Johansson ÅCM
J Immunol Res 2020;2020:8209737. Epub 2020 Nov 28 doi: 10.1155/2020/8209737. PMID: 33313327Free PMC Article
Simonin L, Pasquier E, Leroyer C, Cornec D, Lemerle J, Bendaoud B, Hillion S, Pers JO, Couturaud F, Renaudineau Y
Clin Rev Allergy Immunol 2017 Aug;53(1):14-27. doi: 10.1007/s12016-016-8568-1. PMID: 27342459

Therapy

Gatto M, Bjursten S, Jonsson CA, Agelii ML, Jonell C, McGrath S, Lönnblom E, Sareila O, Holmdahl R, Rudin A, Levin M, Gjertsson I
Arthritis Rheumatol 2023 May;75(5):856-863. Epub 2023 Mar 14 doi: 10.1002/art.42406. PMID: 36409578
Jain H, Sengar M, Goli VB, Thorat J, Tembhare P, Shetty D, Bonda VNA, Nayak L, Subramanian PG, Bagal B, Patkar N, Sharma N, Gupta H, Gujral S
Blood Adv 2021 Sep 14;5(17):3436-3444. doi: 10.1182/bloodadvances.2020003368. PMID: 34461632Free PMC Article
Sambleben C, Knudsen AD, Hartling HJ, Nielsen CH, Nielsen SD
APMIS 2018 Feb;126(2):143-151. Epub 2017 Dec 21 doi: 10.1111/apm.12795. PMID: 29271094
Miyazaki Y, Niino M, Takahashi E, Suzuki M, Mizuno M, Hisahara S, Fukazawa T, Amino I, Nakano F, Nakamura M, Akimoto S, Minami N, Fujiki N, Doi S, Shimohama S, Terayama Y, Kikuchi S
Clin Immunol 2018 Feb;187:95-101. Epub 2017 Oct 25 doi: 10.1016/j.clim.2017.10.009. PMID: 29079163
Blumenfeld S, Staun-Ram E, Miller A
J Autoimmun 2016 Jun;70:40-51. Epub 2016 Apr 4 doi: 10.1016/j.jaut.2016.03.012. PMID: 27055778

Prognosis

Kennedy VE, Sahaf B, Wu F, Ehlinger ZJ, Arai S, Miklos DB
Transplant Cell Ther 2024 May;30(5):518.e1-518.e13. Epub 2024 Mar 6 doi: 10.1016/j.jtct.2024.02.025. PMID: 38458479
Cardoso CC, Matiollo C, Pereira CHJ, Fonseca JS, Alves HEL, Silva OMD, Menegassi VS, Schiavon LL, Santos-Silva MC
Clin Res Hepatol Gastroenterol 2021 Jul;45(4):101698. Epub 2021 Apr 20 doi: 10.1016/j.clinre.2021.101698. PMID: 33852953
Szabó K, Papp G, Szántó A, Tarr T, Zeher M
Clin Exp Immunol 2016 Jan;183(1):76-89. Epub 2015 Oct 21 doi: 10.1111/cei.12703. PMID: 26358223Free PMC Article
Dean HF, Cazaly A, Hurlock C, Borras J, Williams AP, Johnson PW, Davies AJ
Bone Marrow Transplant 2012 Dec;47(12):1545-51. Epub 2012 May 14 doi: 10.1038/bmt.2012.73. PMID: 22580768

Clinical prediction guides

Ye Q, Zhou C, Li S, Wang J, Liu F, Liu Z, Mao J, Fu H
Sci Rep 2021 Jun 22;11(1):13083. doi: 10.1038/s41598-021-92573-6. PMID: 34158604Free PMC Article
Cardoso CC, Matiollo C, Pereira CHJ, Fonseca JS, Alves HEL, Silva OMD, Menegassi VS, Schiavon LL, Santos-Silva MC
Clin Res Hepatol Gastroenterol 2021 Jul;45(4):101698. Epub 2021 Apr 20 doi: 10.1016/j.clinre.2021.101698. PMID: 33852953
Girard MC, Acevedo GR, Ossowski MS, Fernández M, Hernández Y, Chadi R, Gómez KA
Sci Rep 2021 Mar 9;11(1):5511. doi: 10.1038/s41598-021-84765-x. PMID: 33750870Free PMC Article
Elmér E, Smargianaki S, Pettersson Å, Skattum L, Ohlsson S, Hellmark T, Johansson ÅCM
J Immunol Res 2020;2020:8209737. Epub 2020 Nov 28 doi: 10.1155/2020/8209737. PMID: 33313327Free PMC Article
Parackova Z, Klocperk A, Rataj M, Kayserova J, Zentsova I, Sumnik Z, Kolouskova S, Sklenarova J, Pruhova S, Obermannova B, Petruzelkova L, Lebl J, Kalina T, Sediva A
Immunol Lett 2017 Sep;189:94-100. Epub 2017 Apr 14 doi: 10.1016/j.imlet.2017.04.009. PMID: 28414179

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