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Chronic decreased circulating IgG2

MedGen UID:
1737552
Concept ID:
C5421695
Finding
Synonym: Chronic decreased cirulating IgG2
 
HPO: HP:0041063

Definition

A lasting decrease of immunoglobulin G2 (IgG2) in the blood. [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)).

Professional guidelines

PubMed

Greene SE, Huang Y, Curtis KC, King CL, Fischer PU, Weil GJ
PLoS Negl Trop Dis 2023 Jun;17(6):e0011364. Epub 2023 Jun 7 doi: 10.1371/journal.pntd.0011364. PMID: 37285374Free PMC Article
Inoue T, Tanaka Y
Clin Mol Hepatol 2020 Jul;26(3):261-279. Epub 2020 Jun 15 doi: 10.3350/cmh.2020.0032. PMID: 32536045Free PMC Article
Tang L, Zhong R, He X, Wang W, Liu J, Zhu Y, Li Y, Hou J
J Gastroenterol Hepatol 2017 Mar;32(3):659-666. doi: 10.1111/jgh.13534. PMID: 27529417

Recent clinical studies

Therapy

Canales-Herrerias P, Uzzan M, Seki A, Czepielewski RS, Verstockt B, Livanos AE, Raso F, Dunn A, Dai D, Wang A, Al-Taie Z, Martin J, Laurent T, Ko HM, Tokuyama M, Tankelevich M, Meringer H, Cossarini F, Jha D, Krek A, Paulsen JD, Taylor MD, Nakadar MZ, Wong J, Erlich EC, Mintz RL, Onufer EJ, Helmink BA, Sharma K, Rosenstein A, Ganjian D, Chung G, Dawson T, Juarez J, Yajnik V, Cerutti A, Faith JJ, Suarez-Farinas M, Argmann C, Petralia F, Randolph GJ, Polydorides AD, Reboldi A, Colombel JF, Mehandru S
Sci Immunol 2024 Apr 19;9(94):eadg7549. doi: 10.1126/sciimmunol.adg7549. PMID: 38640252Free PMC Article
Burge DJ, Werth VP, Boackle SA, Posada J
Lupus Sci Med 2024 Feb 7;11(1) doi: 10.1136/lupus-2023-001113. PMID: 38325898Free PMC Article
Greene SE, Huang Y, Curtis KC, King CL, Fischer PU, Weil GJ
PLoS Negl Trop Dis 2023 Jun;17(6):e0011364. Epub 2023 Jun 7 doi: 10.1371/journal.pntd.0011364. PMID: 37285374Free PMC Article
Altman K, Zhou C, Hernandez-Trujillo V, Scalchunes C, Rawlings DJ, de la Morena MT
J Clin Immunol 2022 May;42(4):811-818. Epub 2022 Mar 14 doi: 10.1007/s10875-022-01222-8. PMID: 35284987
Inoue T, Tanaka Y
Clin Mol Hepatol 2020 Jul;26(3):261-279. Epub 2020 Jun 15 doi: 10.3350/cmh.2020.0032. PMID: 32536045Free PMC Article

Prognosis

Liang P, Huang Q, Xu Y, Chen L, Li J, Xu A, Yang Q
Clin Rheumatol 2023 Apr;42(4):1069-1076. Epub 2022 Dec 30 doi: 10.1007/s10067-022-06457-9. PMID: 36585530
Inoue T, Tanaka Y
Clin Mol Hepatol 2020 Jul;26(3):261-279. Epub 2020 Jun 15 doi: 10.3350/cmh.2020.0032. PMID: 32536045Free PMC Article
Coley SM, Shirazian S, Radhakrishnan J, D'Agati VD
Am J Kidney Dis 2015 Feb;65(2):322-6. Epub 2014 Oct 22 doi: 10.1053/j.ajkd.2014.08.022. PMID: 25446021
Mattoo H, Mahajan VS, Della-Torre E, Sekigami Y, Carruthers M, Wallace ZS, Deshpande V, Stone JH, Pillai S
J Allergy Clin Immunol 2014 Sep;134(3):679-87. Epub 2014 May 6 doi: 10.1016/j.jaci.2014.03.034. PMID: 24815737Free PMC Article
Blanchette VS, Kirby MA, Turner C
Semin Hematol 1992 Jul;29(3 Suppl 2):72-82. PMID: 1509297

Clinical prediction guides

Kuang H, Shen CR, Jia XY, Tan M, Yang XF, Cui Z, Borza DB, Zhao MH
Kidney Int 2023 Dec;104(6):1124-1134. Epub 2023 Aug 19 doi: 10.1016/j.kint.2023.07.023. PMID: 37598856Free PMC Article
Liang P, Huang Q, Xu Y, Chen L, Li J, Xu A, Yang Q
Clin Rheumatol 2023 Apr;42(4):1069-1076. Epub 2022 Dec 30 doi: 10.1007/s10067-022-06457-9. PMID: 36585530
Altman K, Zhou C, Hernandez-Trujillo V, Scalchunes C, Rawlings DJ, de la Morena MT
J Clin Immunol 2022 May;42(4):811-818. Epub 2022 Mar 14 doi: 10.1007/s10875-022-01222-8. PMID: 35284987
Inoue T, Tanaka Y
Clin Mol Hepatol 2020 Jul;26(3):261-279. Epub 2020 Jun 15 doi: 10.3350/cmh.2020.0032. PMID: 32536045Free PMC Article
Ton Nu PA, Rappelli P, Dessì D, Nguyen VQ, Fiori PL
Sex Transm Infect 2015 Dec;91(8):561-3. Epub 2015 Apr 17 doi: 10.1136/sextrans-2014-051839. PMID: 25887282

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