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Abnormal circulating IgG level

MedGen UID:
1687987
Concept ID:
C5139422
Finding
Synonym: Abnormal IgG level in blood
 
HPO: HP:0410242

Definition

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

Conditions with this feature

Ectodermal dysplasia and immunodeficiency 1
MedGen UID:
375787
Concept ID:
C1846008
Disease or Syndrome
Ectodermal dysplasia with immunodeficiency-1 (EDAID1) is an X-linked recessive disorder that characteristically affects only males. Affected individuals have onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life. There is increased susceptibility to bacterial, pneumococcal, mycobacterial, and fungal infections. Laboratory studies usually show dysgammaglobulinemia with low IgG subsets and normal or increased IgA and IgM, consistent with impaired 'class-switching' of B cells, although immunologic abnormalities may be subtle compared to the clinical picture, and B- and T-cell numbers are usually normal. There is a poor antibody response to polysaccharide vaccinations, particularly pneumococcus; response to other vaccinations is variable. Patients also have features of ectodermal dysplasia, including conical incisors, hypo/anhidrosis, and thin skin or hair. Severely affected individuals may also show lymphedema, osteopetrosis, and, rarely, hematologic abnormalities. The phenotype is highly variable, likely due to different hypomorphic mutations, and may be fatal in childhood. Intravenous immunoglobulins and prophylactic antibiotics are used as treatment; some patients may benefit from bone marrow transplantation. Although only males tend to be affected with immunodeficiency, many patients inherit a mutation from a mother who has mild features of IP or conical teeth (summary by Doffinger et al., 2001, Orange et al., 2004, Roberts et al., 2010, Heller et al., 2020). Genetic Heterogeneity of Ectodermal Dysplasia and Immune Deficiency Also see EDAID2 (612132), caused by mutation in the NFKBIA gene (164008).
Immunodeficiency 32B
MedGen UID:
865178
Concept ID:
C4016741
Disease or Syndrome
Immunodeficiency-32B is an autosomal recessive primary immunodeficiency characterized by recurrent infections resulting from variable defects in immune cell development or function, including monocytes, dendritic cells, and natural killer (NK) cells. Patients have particular susceptibility to viral disease (summary by Mace et al., 2017).
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
MedGen UID:
904009
Concept ID:
C4225260
Disease or Syndrome
Immunodeficiency-44 (IMD44) is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination in some patients. Affected individuals appear to have defects in mitochondrial fission and fusion (summary by Shahni et al., 2015).

Professional guidelines

PubMed

Vanbesien J, Schiettecatte J, Anckaert E, Smitz J, Velkeniers B, De Schepper J
Eur J Pediatr 2002 Jul;161(7):373-6. Epub 2002 Jun 4 doi: 10.1007/s00431-002-0967-z. PMID: 12111188
Pacifici R, Paris L, Di Carlo S, Pichini S, Zuccaro P
Epilepsia 1991 Jan-Feb;32(1):122-7. doi: 10.1111/j.1528-1157.1991.tb05622.x. PMID: 1985820

Recent clinical studies

Etiology

Zhao G, Liang J, Cao J, Jiang S, Lu J, Jiang B
J Healthc Eng 2022;2022:3724033. Epub 2022 Apr 19 doi: 10.1155/2022/3724033. PMID: 35494526Free PMC Article
Rossignol J, Ouedrani A, Livideanu CB, Barete S, Terriou L, Launay D, Lemal R, Greco C, Frenzel L, Meni C, Bodemere-Skandalis C, Polivka L, Collange AF, Hachichi H, Bouzourine S, Messaoud DN, Negretto M, Vendrame L, Jambou M, Gousseff M, Durupt S, Lega JC, Durand JM, Gaudy C, Damaj G, Gourin MP, Hamidou M, Bouillet L, Le Mouel E, Maria A, Zunic P, Cabrera Q, Vincent D, Lavigne C, Riviere E, Gourguechon C, Courbebaisse M, Lebeaux D, Parfait B, Friedlander G, Brignier A, Lhermitte L, Molina TJ, Bruneau J, Agopian J, Dubreuil P, Ranta D, Mania A, Arock M, Staropoli I, Tournilhac O, Lortholary O, Schwartz O, Chatenoud L, Hermine O
J Allergy Clin Immunol Pract 2022 May;10(5):1356-1364.e2. Epub 2022 Jan 21 doi: 10.1016/j.jaip.2021.12.038. PMID: 35074600Free PMC Article
Xiao N, He X, Niu H, Yu H, Cui N, Li H, Yan L, Shao Z, Xing L, Wang H
J Immunol Res 2021;2021:4302515. Epub 2021 Sep 30 doi: 10.1155/2021/4302515. PMID: 34631897Free PMC Article
Viera S, Ludek P, Zdeněk A, Marta K, Martin Š, Sabina Š, Zdeněk K
Klin Onkol 2018 Summer;31(4):270-276. doi: 10.14735/amko2018270. PMID: 30541309
Shilova N, Huflejt ME, Vuskovic M, Obukhova P, Navakouski M, Khasbiullina N, Pazynina G, Galanina O, Bazhenov A, Bovin N
Top Curr Chem 2015;366:169-81. doi: 10.1007/128_2013_469. PMID: 24037491

Diagnosis

Zhao G, Liang J, Cao J, Jiang S, Lu J, Jiang B
J Healthc Eng 2022;2022:3724033. Epub 2022 Apr 19 doi: 10.1155/2022/3724033. PMID: 35494526Free PMC Article
Viera S, Ludek P, Zdeněk A, Marta K, Martin Š, Sabina Š, Zdeněk K
Klin Onkol 2018 Summer;31(4):270-276. doi: 10.14735/amko2018270. PMID: 30541309
Van Hemelrijck M, Karagiannis SN, Rohrmann S
Cancer Immunol Immunother 2017 Dec;66(12):1557-1562. Epub 2017 Aug 9 doi: 10.1007/s00262-017-2048-1. PMID: 28795218
Shilova N, Huflejt ME, Vuskovic M, Obukhova P, Navakouski M, Khasbiullina N, Pazynina G, Galanina O, Bazhenov A, Bovin N
Top Curr Chem 2015;366:169-81. doi: 10.1007/128_2013_469. PMID: 24037491
Lalezari P, Khorshidi M, Petrosova M
J Pediatr 1986 Nov;109(5):764-9. doi: 10.1016/s0022-3476(86)80690-4. PMID: 3534197

Therapy

Hakki S, Robinson EJ, Robson MG
Sci Rep 2022 Jan 26;12(1):1427. doi: 10.1038/s41598-022-05062-9. PMID: 35082332Free PMC Article
Xiao N, He X, Niu H, Yu H, Cui N, Li H, Yan L, Shao Z, Xing L, Wang H
J Immunol Res 2021;2021:4302515. Epub 2021 Sep 30 doi: 10.1155/2021/4302515. PMID: 34631897Free PMC Article
Russo K, Hoch S, Dima C, Varga J, Teodorescu M
J Rheumatol 2000 Jan;27(1):142-8. PMID: 10648030
Gleicher N, Harlow L
Mt Sinai J Med 1990 Sep;57(4):242-8. PMID: 2123297
Lalezari P, Khorshidi M, Petrosova M
J Pediatr 1986 Nov;109(5):764-9. doi: 10.1016/s0022-3476(86)80690-4. PMID: 3534197

Prognosis

Hakki S, Robinson EJ, Robson MG
Sci Rep 2022 Jan 26;12(1):1427. doi: 10.1038/s41598-022-05062-9. PMID: 35082332Free PMC Article
Sun L, Li L, Sun T, Zhang L, Li C, Xu M, Hou Y, Peng J, Hou M, Wang L
Int Immunopharmacol 2021 Jun;95:107502. Epub 2021 Mar 6 doi: 10.1016/j.intimp.2021.107502. PMID: 33690000
Viera S, Ludek P, Zdeněk A, Marta K, Martin Š, Sabina Š, Zdeněk K
Klin Onkol 2018 Summer;31(4):270-276. doi: 10.14735/amko2018270. PMID: 30541309
Lopes-Virella MF, Hunt KJ, Baker NL, Virella G; VADT Group of Investigators
J Diabetes Complications 2016 May-Jun;30(4):693-9. Epub 2016 Jan 14 doi: 10.1016/j.jdiacomp.2016.01.012. PMID: 26861948
Sansonno D, Iacobelli AR, Cornacchiulo V, Lauletta G, Distasi MA, Gatti P, Dammacco F
Eur J Clin Invest 1996 Jun;26(6):465-75. doi: 10.1046/j.1365-2362.1996.162317.x. PMID: 8817160

Clinical prediction guides

Tukaj S, Mantej J, Sitko K, Zillikens D, Ludwig RJ, Bieber K, Kasperkiewicz M
Front Immunol 2022;13:877958. Epub 2022 Apr 20 doi: 10.3389/fimmu.2022.877958. PMID: 35514963Free PMC Article
Long Y, Xia C, Xu L, Liu C, Fan C, Bao H, Zhao X, Liu C
Front Immunol 2020;11:104. Epub 2020 Feb 14 doi: 10.3389/fimmu.2020.00104. PMID: 32117258Free PMC Article
Viera S, Ludek P, Zdeněk A, Marta K, Martin Š, Sabina Š, Zdeněk K
Klin Onkol 2018 Summer;31(4):270-276. doi: 10.14735/amko2018270. PMID: 30541309
Van Hemelrijck M, Karagiannis SN, Rohrmann S
Cancer Immunol Immunother 2017 Dec;66(12):1557-1562. Epub 2017 Aug 9 doi: 10.1007/s00262-017-2048-1. PMID: 28795218
Shilova N, Huflejt ME, Vuskovic M, Obukhova P, Navakouski M, Khasbiullina N, Pazynina G, Galanina O, Bazhenov A, Bovin N
Top Curr Chem 2015;366:169-81. doi: 10.1007/128_2013_469. PMID: 24037491

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