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Abnormal B cell count

MedGen UID:
866853
Concept ID:
C4021208
Finding
Synonym: Abnormality of B cell number
 
HPO: HP:0010975

Definition

A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells. [from HPO]

Conditions with this feature

Predisposition to invasive fungal disease due to CARD9 deficiency
MedGen UID:
347128
Concept ID:
C1859353
Disease or Syndrome
A rare genetic primary immunodeficiency with characteristics of increased susceptibility to fungal infections that typically manifest as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis and deep dermatophytosis. Dermatophytes invade skin, hair, nails, lymph nodes and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis and lymphadenopathy.

Professional guidelines

PubMed

Sanges S, Germain N, Vignes S, Séguy D, Stabler S, Etienne N, Terriou L, Launay D, Hachulla É, Huglo D, Dubucquoi S, Labalette M, Lefèvre G
J Clin Immunol 2022 Oct;42(7):1461-1472. Epub 2022 Jun 23 doi: 10.1007/s10875-022-01299-1. PMID: 35737255
Bulkhi AA, Dasso JF, Schuetz C, Walter JE
Expert Rev Clin Immunol 2019 Oct;15(10):1033-1046. Epub 2019 Oct 10 doi: 10.1080/1744666X.2020.1670060. PMID: 31535575
Hallek M
Am J Hematol 2017 Sep;92(9):946-965. doi: 10.1002/ajh.24826. PMID: 28782884

Recent clinical studies

Etiology

Ballow M, Sánchez-Ramón S, Walter JE
Front Immunol 2022;13:928062. Epub 2022 Jul 18 doi: 10.3389/fimmu.2022.928062. PMID: 35924244Free PMC Article
Fekrvand S, Khanmohammadi S, Abolhassani H, Yazdani R
Front Immunol 2022;13:912826. Epub 2022 Jun 15 doi: 10.3389/fimmu.2022.912826. PMID: 35784324Free PMC Article
Li P, Brown S, Williams M, White T, Xie W, Cui W, Peker D, Lei L, Kunder CA, Wang HY, Murray SS, Vagher J, Kovacsovics T, Patel JL
Blood 2022 Aug 18;140(7):716-755. doi: 10.1182/blood.2021015135. PMID: 35671390Free PMC Article
Terwilliger T, Abdul-Hay M
Blood Cancer J 2017 Jun 30;7(6):e577. doi: 10.1038/bcj.2017.53. PMID: 28665419Free PMC Article
Döhner H, Stilgenbauer S, Benner A, Leupolt E, Kröber A, Bullinger L, Döhner K, Bentz M, Lichter P
N Engl J Med 2000 Dec 28;343(26):1910-6. doi: 10.1056/NEJM200012283432602. PMID: 11136261

Diagnosis

Ballow M, Sánchez-Ramón S, Walter JE
Front Immunol 2022;13:928062. Epub 2022 Jul 18 doi: 10.3389/fimmu.2022.928062. PMID: 35924244Free PMC Article
Li P, Brown S, Williams M, White T, Xie W, Cui W, Peker D, Lei L, Kunder CA, Wang HY, Murray SS, Vagher J, Kovacsovics T, Patel JL
Blood 2022 Aug 18;140(7):716-755. doi: 10.1182/blood.2021015135. PMID: 35671390Free PMC Article
Starr SP
FP Essent 2016 Nov;450:35-53. PMID: 27869441
Younes M, Dagher GA, Dulanto JV, Njeim M, Kuriakose P
South Med J 2013 Feb;106(2):121-5. doi: 10.1097/SMJ.0b013e3182824cdf. PMID: 23380746
Rawstron AC
Hematology Am Soc Hematol Educ Program 2009:430-9. doi: 10.1182/asheducation-2009.1.430. PMID: 20008229

Therapy

Wang H, Tsao ST, Gu M, Fu C, He F, Li X, Zhang M, Li N, Hu HM
J Transl Med 2022 Dec 19;20(1):608. doi: 10.1186/s12967-022-03833-6. PMID: 36536403Free PMC Article
Azizi G, Rezaei N, Kiaee F, Tavakolinia N, Yazdani R, Mirshafiey A, Aghamohammadi A
J Investig Allergol Clin Immunol 2016;26(4):233-43. Epub 2016 Apr 15 doi: 10.18176/jiaci.0069. PMID: 27374799
Gupta V, Kumar A
Adv Exp Med Biol 2010;685:215-9. doi: 10.1007/978-1-4419-6448-9_20. PMID: 20687509
Rawstron AC
Hematology Am Soc Hematol Educ Program 2009:430-9. doi: 10.1182/asheducation-2009.1.430. PMID: 20008229
Cripe LD
Curr Probl Cancer 1997 Jan-Feb;21(1):1-64. doi: 10.1016/s0147-0272(97)80006-2. PMID: 9058027

Prognosis

Yoshizaki A, Fukasawa T, Ebata S, Yoshizaki-Ogawa A, Sato S
Front Immunol 2022;13:938785. Epub 2022 Jul 28 doi: 10.3389/fimmu.2022.938785. PMID: 35967355Free PMC Article
Terwilliger T, Abdul-Hay M
Blood Cancer J 2017 Jun 30;7(6):e577. doi: 10.1038/bcj.2017.53. PMID: 28665419Free PMC Article
Younes M, Dagher GA, Dulanto JV, Njeim M, Kuriakose P
South Med J 2013 Feb;106(2):121-5. doi: 10.1097/SMJ.0b013e3182824cdf. PMID: 23380746
Rawstron AC
Hematology Am Soc Hematol Educ Program 2009:430-9. doi: 10.1182/asheducation-2009.1.430. PMID: 20008229
Döhner H, Stilgenbauer S, Benner A, Leupolt E, Kröber A, Bullinger L, Döhner K, Bentz M, Lichter P
N Engl J Med 2000 Dec 28;343(26):1910-6. doi: 10.1056/NEJM200012283432602. PMID: 11136261

Clinical prediction guides

Moeini Shad T, Yousefi B, Amirifar P, Delavari S, Rae W, Kokhaei P, Abolhassani H, Aghamohammadi A, Yazdani R
J Clin Immunol 2021 Jan;41(1):76-88. Epub 2020 Oct 14 doi: 10.1007/s10875-020-00881-9. PMID: 33052516
Linari S, Castaman G
Expert Rev Hematol 2016 Jan;9(1):51-8. Epub 2015 Nov 13 doi: 10.1586/17474086.2016.1112732. PMID: 26565753
Thanarajasingam U, Niewold TB
Expert Opin Investig Drugs 2014 Oct;23(10):1449-55. Epub 2014 Sep 5 doi: 10.1517/13543784.2014.950837. PMID: 25189410
Reust CE
Am Fam Physician 2013 Jun 1;87(11):773-8. PMID: 23939499
Döhner H, Stilgenbauer S, Benner A, Leupolt E, Kröber A, Bullinger L, Döhner K, Bentz M, Lichter P
N Engl J Med 2000 Dec 28;343(26):1910-6. doi: 10.1056/NEJM200012283432602. PMID: 11136261

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