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Abnormal B cell morphology

MedGen UID:
867383
Concept ID:
C4021748
Finding
Synonyms: Abnormal B cells; B-cell abnormalities
 
HPO: HP:0002846

Definition

A structural abnormality of B cells. [from HPO]

Conditions with this feature

Combined immunodeficiency due to CD3gamma deficiency
MedGen UID:
816437
Concept ID:
C3810107
Disease or Syndrome
Immunodeficiency-17 (IMD17) is an autosomal recessive primary immunodeficiency characterized by highly variable clinical severity. Some patients have onset of severe recurrent infections in early infancy that may be lethal, whereas others may be only mildly affected or essentially asymptomatic into young adulthood. More severely affected patients may have evidence of autoimmune disease or enteropathy. The immunologic pattern is similar among patients, showing partial T-cell lymphopenia, particularly of cytotoxic CD8 (see 186910)-positive cells, decreased amounts of the CD3 complex, and impaired proliferative responses to T-cell receptor (TCR)-dependent stimuli. B cells, natural killer (NK) cells, and immunoglobulins are usually normal. Although thymic output of functional naive T cells early in life is decreased, polyclonal expansion of functional memory T cells is substantial. The phenotype in some patients is reminiscent of severe combined immunodeficiency (SCID) (summary by Timon et al. (1993) and Recio et al. (2007)).
Immunodeficiency 19
MedGen UID:
816477
Concept ID:
C3810147
Disease or Syndrome
Immunodeficiency-19 (IMD19) is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype. The disorder is lethal in early childhood without bone marrow transplantation (summary by Yu et al., 2011).
Immunodeficiency-centromeric instability-facial anomalies syndrome 4
MedGen UID:
934765
Concept ID:
C4310798
Disease or Syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome-4 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015). For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (242860).
Immunodeficiency-centromeric instability-facial anomalies syndrome 3
MedGen UID:
934766
Concept ID:
C4310799
Disease or Syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015). For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (242860).
Vertebral anomalies and variable endocrine and T-cell dysfunction
MedGen UID:
1648299
Concept ID:
C4748741
Disease or Syndrome
Vertebral anomalies and variable endocrine and T-cell dysfunction is a syndrome characterized by an overlapping spectrum of features. Skeletal malformations primarily involve the vertebrae, and endocrine abnormalities involving parathyroid hormone (PTH; 168450), growth hormone (GH1; 139250), and the thyroid gland have been reported. T-cell abnormalities have been observed, with some patients showing thymus gland aplasia or hypoplasia. Patients have mild craniofacial dysmorphism, and some show developmental delay or behavioral problems. Cardiac defects may be present (Liu et al., 2018).

Professional guidelines

PubMed

Chen S, Boyer D, Hristov AC
Arch Pathol Lab Med 2018 Nov;142(11):1352-1357. doi: 10.5858/arpa.2018-0283-RA. PMID: 30407855
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
Matutes E, Martínez-Trillos A, Campo E
Best Pract Res Clin Haematol 2015 Dec;28(4):253-63. Epub 2015 Oct 8 doi: 10.1016/j.beha.2015.09.002. PMID: 26614904

Recent clinical studies

Etiology

Dong C, Guo Y, Chen Z, Li T, Ji J, Sun C, Li J, Cao H, Xia Y, Xue Z, Gu X, Liang Q, Zhao R, Fu T, Ma J, Jiang S, Wu C, Fu Q, Guo G, Bao Y, Guo H, Yang J, Xu M, Zhang X, Sheng Z, Gu Z
Arthritis Rheumatol 2024 Apr;76(4):599-613. Epub 2024 Jan 30 doi: 10.1002/art.42750. PMID: 37946666
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
Kim CJ, Romero R, Chaemsaithong P, Kim JS
Am J Obstet Gynecol 2015 Oct;213(4 Suppl):S53-69. doi: 10.1016/j.ajog.2015.08.041. PMID: 26428503Free PMC Article

Diagnosis

McAvera R, Quinn J, Murphy P, Glavey S
Int J Mol Sci 2023 Jul 9;24(14) doi: 10.3390/ijms241411259. PMID: 37511018Free PMC Article
Dispenzieri A, Kourelis T, Buadi F
Hematol Oncol Clin North Am 2018 Feb;32(1):119-139. doi: 10.1016/j.hoc.2017.09.010. PMID: 29157614
Loghavi S, Kutok JL, Jorgensen JL
Am J Clin Pathol 2015 Sep;144(3):393-410. doi: 10.1309/AJCPAN7BH5DNYWZB. PMID: 26276770
Craig FE, Foon KA
Blood 2008 Apr 15;111(8):3941-67. Epub 2008 Jan 15 doi: 10.1182/blood-2007-11-120535. PMID: 18198345
Litman RS, Rosenberg H
JAMA 2005 Jun 15;293(23):2918-24. doi: 10.1001/jama.293.23.2918. PMID: 15956637

Therapy

Li W, Lin A, Qi L, Lv X, Yan S, Xue J, Mu N
Front Immunol 2023;14:1128301. Epub 2023 Apr 17 doi: 10.3389/fimmu.2023.1128301. PMID: 37138868Free 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
Armand P, Rodig S, Melnichenko V, Thieblemont C, Bouabdallah K, Tumyan G, Özcan M, Portino S, Fogliatto L, Caballero MD, Walewski J, Gulbas Z, Ribrag V, Christian B, Perini GF, Salles G, Svoboda J, Zain J, Patel S, Chen PH, Ligon AH, Ouyang J, Neuberg D, Redd R, Chatterjee A, Balakumaran A, Orlowski R, Shipp M, Zinzani PL
J Clin Oncol 2019 Dec 1;37(34):3291-3299. Epub 2019 Oct 14 doi: 10.1200/JCO.19.01389. PMID: 31609651Free PMC Article
Furie R, Petri M, Zamani O, Cervera R, Wallace DJ, Tegzová D, Sanchez-Guerrero J, Schwarting A, Merrill JT, Chatham WW, Stohl W, Ginzler EM, Hough DR, Zhong ZJ, Freimuth W, van Vollenhoven RF; BLISS-76 Study Group
Arthritis Rheum 2011 Dec;63(12):3918-30. doi: 10.1002/art.30613. PMID: 22127708Free PMC Article

Prognosis

McAvera R, Quinn J, Murphy P, Glavey S
Int J Mol Sci 2023 Jul 9;24(14) doi: 10.3390/ijms241411259. PMID: 37511018Free PMC Article
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
Li S, Young KH, Medeiros LJ
Pathology 2018 Jan;50(1):74-87. Epub 2017 Nov 20 doi: 10.1016/j.pathol.2017.09.006. PMID: 29167021
International CLL-IPI working group
Lancet Oncol 2016 Jun;17(6):779-790. Epub 2016 May 13 doi: 10.1016/S1470-2045(16)30029-8. PMID: 27185642

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
Matsushita T, Takehara K
Expert Rev Mol Diagn 2017 Sep;17(9):823-833. Epub 2017 Jul 25 doi: 10.1080/14737159.2017.1356722. PMID: 28730919
Ribourtout B, Zandecki M
Morphologie 2015 Jun;99(325):38-62. Epub 2015 Apr 18 doi: 10.1016/j.morpho.2015.02.001. PMID: 25899140
Tsubata T
Autoimmunity 2005 Aug;38(5):331-7. doi: 10.1080/08916930500123959. PMID: 16240466

Recent systematic reviews

Li Q, Ai L, Zuo L, Li J, Zhao F, Xu A, Zhang B, Cai L, Hu Y, Sun C
Ann Med 2024 Dec;56(1):2338604. Epub 2024 Apr 10 doi: 10.1080/07853890.2024.2338604. PMID: 38599340Free PMC Article
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
Ford AC, Talley NJ
J Gastroenterol 2011 Apr;46(4):421-31. Epub 2011 Feb 18 doi: 10.1007/s00535-011-0379-9. PMID: 21331765

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