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Abnormal immunoglobulin level

MedGen UID:
340953
Concept ID:
C1855755
Finding
Synonym: Abnormal immunoglobulin levels
 
HPO: HP:0010701

Definition

An abnormal deviation from normal levels of immunoglobulins in blood. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal immunoglobulin level

Conditions with this feature

Schimke immuno-osseous dysplasia
MedGen UID:
164078
Concept ID:
C0877024
Congenital Abnormality
Schimke immunoosseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia (SED) resulting in short stature, nephropathy, and T-cell deficiency. Radiographic manifestations of SED include ovoid and mildly flattened vertebral bodies, small ilia with shallow dysplastic acetabular fossae, and small deformed capital femoral epiphyses. Nearly all affected individuals have progressive steroid-resistant nephropathy, usually developing within five years of the diagnosis of growth failure and terminating with end-stage renal disease. The majority of tested individuals have T-cell deficiency and an associated risk for opportunistic infection, a common cause of death. SIOD involves a spectrum that ranges from an infantile or severe early-onset form with a greater risk of death during childhood to a juvenile or milder later-onset form with likely survival into adulthood if renal disease is appropriately treated.
PA POLYMORPHISM OF ALPHA-2-GLOBULIN
MedGen UID:
342415
Concept ID:
C1850104
Genetic Function
Recurrent infections associated with rare immunoglobulin isotypes deficiency
MedGen UID:
481454
Concept ID:
C3279824
Disease or Syndrome
Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.

Professional guidelines

PubMed

Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free PMC Article
Yazdani R, Fekrvand S, Shahkarami S, Azizi G, Moazzami B, Abolhassani H, Aghamohammadi A
Clin Immunol 2019 Jan;198:19-30. Epub 2018 Nov 13 doi: 10.1016/j.clim.2018.11.007. PMID: 30439505
Michels TC, Petersen KE
Am Fam Physician 2017 Mar 15;95(6):373-383. PMID: 28318212

Recent clinical studies

Etiology

Dimitriades V, Butani L
Pediatr Nephrol 2023 Jun;38(6):1753-1762. Epub 2022 Sep 30 doi: 10.1007/s00467-022-05757-1. PMID: 36178549Free PMC Article
Lefferdink R, Rangel SM, Chima M, Ibler E, Pavel AB, Kim H, Wu B, Abu-Zayed H, Wu J, Jackson K, Singer G, Choate KA, Guttman-Yassky E, Paller AS
Arch Dermatol Res 2023 Mar;315(2):305-315. Epub 2022 Feb 26 doi: 10.1007/s00403-022-02325-3. PMID: 35218370Free PMC Article
Geng J, Dong J, Li Y, Ni H, Jiang K, Shi LL, Wang G
Cochrane Database Syst Rev 2019 Dec 2;12(12):CD008557. doi: 10.1002/14651858.CD008557.pub4. PMID: 31792946Free PMC Article
Hill CR, Theos A
Dermatol Clin 2019 Apr;37(2):229-239. doi: 10.1016/j.det.2018.11.004. PMID: 30850045
Geng J, Dong J, Li Y, Ni H, Jiang K, Shi LL, Wang G
Cochrane Database Syst Rev 2017 Jul 4;7(7):CD008557. doi: 10.1002/14651858.CD008557.pub3. PMID: 28675262Free PMC Article

Diagnosis

Noris M, Remuzzi G
Nephrol Dial Transplant 2024 Jan 31;39(2):202-214. doi: 10.1093/ndt/gfad182. PMID: 37604793Free PMC Article
Tornai D, Ven PL, Lakatos PL, Papp M
World J Gastroenterol 2022 Jun 7;28(21):2291-2301. doi: 10.3748/wjg.v28.i21.2291. PMID: 35800183Free PMC Article
Monteiro RC, Suzuki Y
Semin Immunopathol 2021 Oct;43(5):639-648. Epub 2021 Jul 7 doi: 10.1007/s00281-021-00878-5. PMID: 34230994
Sudulagunta SR, Sodalagunta MB, Sepehrar M, Khorram H, Bangalore Raja SK, Kothandapani S, Noroozpour Z, Aheta Sham M, Prasad N, Sunny SP, Mohammed MD, Gangadharappa R, Nidsale Sudarshan R
Ger Med Sci 2015;13:Doc16. Epub 2015 Sep 21 doi: 10.3205/000220. PMID: 26421004Free PMC Article
Kolar OJ, Burkhart JE
Br J Vener Dis 1977 Aug;53(4):221-5. doi: 10.1136/sti.53.4.221. PMID: 336144Free PMC Article

Therapy

Bateman RJ, Smith J, Donohue MC, Delmar P, Abbas R, Salloway S, Wojtowicz J, Blennow K, Bittner T, Black SE, Klein G, Boada M, Grimmer T, Tamaoka A, Perry RJ, Turner RS, Watson D, Woodward M, Thanasopoulou A, Lane C, Baudler M, Fox NC, Cummings JL, Fontoura P, Doody RS; GRADUATE I and II Investigators and the Gantenerumab Study Group
N Engl J Med 2023 Nov 16;389(20):1862-1876. doi: 10.1056/NEJMoa2304430. PMID: 37966285Free PMC Article
Nogami K, Shima M
Br J Haematol 2023 Jan;200(1):23-34. Epub 2022 Jul 23 doi: 10.1111/bjh.18379. PMID: 35869698
Avgerinos KI, Ferrucci L, Kapogiannis D
Ageing Res Rev 2021 Jul;68:101339. Epub 2021 Apr 5 doi: 10.1016/j.arr.2021.101339. PMID: 33831607Free 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
Sudulagunta SR, Sodalagunta MB, Sepehrar M, Khorram H, Bangalore Raja SK, Kothandapani S, Noroozpour Z, Aheta Sham M, Prasad N, Sunny SP, Mohammed MD, Gangadharappa R, Nidsale Sudarshan R
Ger Med Sci 2015;13:Doc16. Epub 2015 Sep 21 doi: 10.3205/000220. PMID: 26421004Free PMC Article

Prognosis

Noris M, Remuzzi G
Nephrol Dial Transplant 2024 Jan 31;39(2):202-214. doi: 10.1093/ndt/gfad182. PMID: 37604793Free PMC Article
Maslinska M, Dmowska-Chalaba J, Jakubaszek M
Front Immunol 2021;12:787422. Epub 2022 Jan 25 doi: 10.3389/fimmu.2021.787422. PMID: 35145508Free PMC Article
Kyle RA, Larson DR, Therneau TM, Dispenzieri A, Kumar S, Cerhan JR, Rajkumar SV
N Engl J Med 2018 Jan 18;378(3):241-249. doi: 10.1056/NEJMoa1709974. PMID: 29342381Free PMC Article
Rudin CM, Pietanza MC, Bauer TM, Ready N, Morgensztern D, Glisson BS, Byers LA, Johnson ML, Burris HA 3rd, Robert F, Han TH, Bheddah S, Theiss N, Watson S, Mathur D, Vennapusa B, Zayed H, Lally S, Strickland DK, Govindan R, Dylla SJ, Peng SL, Spigel DR; SCRX16-001 investigators
Lancet Oncol 2017 Jan;18(1):42-51. Epub 2016 Dec 5 doi: 10.1016/S1470-2045(16)30565-4. PMID: 27932068Free PMC Article
Sudulagunta SR, Sodalagunta MB, Sepehrar M, Khorram H, Bangalore Raja SK, Kothandapani S, Noroozpour Z, Aheta Sham M, Prasad N, Sunny SP, Mohammed MD, Gangadharappa R, Nidsale Sudarshan R
Ger Med Sci 2015;13:Doc16. Epub 2015 Sep 21 doi: 10.3205/000220. PMID: 26421004Free PMC Article

Clinical prediction guides

Noris M, Remuzzi G
Nephrol Dial Transplant 2024 Jan 31;39(2):202-214. doi: 10.1093/ndt/gfad182. PMID: 37604793Free PMC Article
Nogami K, Shima M
Br J Haematol 2023 Jan;200(1):23-34. Epub 2022 Jul 23 doi: 10.1111/bjh.18379. PMID: 35869698
Lefferdink R, Rangel SM, Chima M, Ibler E, Pavel AB, Kim H, Wu B, Abu-Zayed H, Wu J, Jackson K, Singer G, Choate KA, Guttman-Yassky E, Paller AS
Arch Dermatol Res 2023 Mar;315(2):305-315. Epub 2022 Feb 26 doi: 10.1007/s00403-022-02325-3. PMID: 35218370Free PMC Article
Tornai D, Ven PL, Lakatos PL, Papp M
World J Gastroenterol 2022 Jun 7;28(21):2291-2301. doi: 10.3748/wjg.v28.i21.2291. PMID: 35800183Free 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

Recent systematic reviews

Rahman A, Hossen MA, Chowdhury MFI, Bari S, Tamanna N, Sultana SS, Haque SN, Al Masud A, Saif-Ur-Rahman KM
Psychogeriatrics 2023 May;23(3):512-522. Epub 2023 Feb 12 doi: 10.1111/psyg.12944. PMID: 36775284
Avgerinos KI, Ferrucci L, Kapogiannis D
Ageing Res Rev 2021 Jul;68:101339. Epub 2021 Apr 5 doi: 10.1016/j.arr.2021.101339. PMID: 33831607Free PMC Article
Geng J, Dong J, Li Y, Ni H, Jiang K, Shi LL, Wang G
Cochrane Database Syst Rev 2019 Dec 2;12(12):CD008557. doi: 10.1002/14651858.CD008557.pub4. PMID: 31792946Free PMC Article
Geng J, Dong J, Li Y, Ni H, Jiang K, Shi LL, Wang G
Cochrane Database Syst Rev 2017 Jul 4;7(7):CD008557. doi: 10.1002/14651858.CD008557.pub3. PMID: 28675262Free PMC Article
Götestam Skorpen C, Hoeltzenbein M, Tincani A, Fischer-Betz R, Elefant E, Chambers C, da Silva J, Nelson-Piercy C, Cetin I, Costedoat-Chalumeau N, Dolhain R, Förger F, Khamashta M, Ruiz-Irastorza G, Zink A, Vencovsky J, Cutolo M, Caeyers N, Zumbühl C, Østensen M
Ann Rheum Dis 2016 May;75(5):795-810. Epub 2016 Feb 17 doi: 10.1136/annrheumdis-2015-208840. PMID: 26888948

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