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Hyperimmunoglobulin M syndrome

MedGen UID:
124420
•Concept ID:
C0272236
•
Disease or Syndrome
Synonyms: Hyper IgM syndrome; Immunodeficiency with Hyper-IgM; Immunodeficiency with IgM hypergammaglobulinemia
SNOMED CT: Immunodeficiency with IgM hypergammaglobulinemia (82286005); Hyper IgM syndrome (82286005); Hyperimmunoglobulin M syndrome (82286005)
 
Monarch Initiative: MONDO:0003947
OMIM® Phenotypic series: PS308230

Definition

A genetically heterogenous group of conditions characterized by decreased levels of IgG, IgA, and IgE, and normal or increased levels of IgM. Patients are at an increased risk of infections and development of malignancies. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHyperimmunoglobulin M syndrome

Professional guidelines

PubMed

Do elevated serum IgM levels have to be included in probable diagnosis criteria of patients with ataxia-telangiectasia?
Azarsiz E, Karaca NE, Gunaydin NC, Gulez N, Ozturk C, Aksu G, Genel F, Kutukculer N
Int J Immunopathol Pharmacol 2014 Jul-Sep;27(3):421-7. doi: 10.1177/039463201402700312. PMID: 25280033

Recent clinical studies

Etiology

A single-center study points to diverse features and outcome in patients with Hyperimmunoglobulin M Syndrome and Class- Switch Recombination defects.
Akarsu A, Halaçlı S, Tan Ç, Kuşkonmaz B, Küpesiz A, Çetinkaya D, Sanal Ö, Tezcan İ, Çağdaş D
Scand J Immunol 2022 Nov;96(5):e13213. Epub 2022 Sep 1 doi: 10.1111/sji.13213. PMID: 36808635
Peripheral immune profile of children with Talaromyces marneffei infections: a retrospective analysis of 21 cases.
Zeng Q, Jin Y, Yin G, Yang D, Li W, Shi T, Lu G, Huang L, Fan H
BMC Infect Dis 2021 Mar 20;21(1):287. doi: 10.1186/s12879-021-05978-z. PMID: 33743629Free PMC Article
Poorly differentiated gastroenteropancreatic neuroendocrine carcinoma associated with X-linked hyperimmunoglobulin M syndrome.
Malhotra RK, Li W
Arch Pathol Lab Med 2008 May;132(5):847-50. doi: 10.5858/2008-132-847-PDGNCA. PMID: 18466034
Preimplantation genetic diagnosis with HLA matching.
Rechitsky S, Kuliev A, Tur-Kaspa I, Morris R, Verlinsky Y
Reprod Biomed Online 2004 Aug;9(2):210-21. doi: 10.1016/s1472-6483(10)62132-3. PMID: 15333254
The X-linked hyperimmunoglobulin M syndrome.
Fuleihan RL
Semin Hematol 1998 Oct;35(4):321-31. PMID: 9801261

Diagnosis

A single-center study points to diverse features and outcome in patients with Hyperimmunoglobulin M Syndrome and Class- Switch Recombination defects.
Akarsu A, Halaçlı S, Tan Ç, Kuşkonmaz B, Küpesiz A, Çetinkaya D, Sanal Ö, Tezcan İ, Çağdaş D
Scand J Immunol 2022 Nov;96(5):e13213. Epub 2022 Sep 1 doi: 10.1111/sji.13213. PMID: 36808635
Peripheral immune profile of children with Talaromyces marneffei infections: a retrospective analysis of 21 cases.
Zeng Q, Jin Y, Yin G, Yang D, Li W, Shi T, Lu G, Huang L, Fan H
BMC Infect Dis 2021 Mar 20;21(1):287. doi: 10.1186/s12879-021-05978-z. PMID: 33743629Free PMC Article
Diminished CD40L expression on T-cells in a case of disseminated cryptococcosis.
Mohanty SK, Thakral D, Gupta D, Kumar P, Mitra DK
Indian J Pathol Microbiol 2018 Jan-Mar;61(1):137-140. doi: 10.4103/IJPM.IJPM_761_16. PMID: 29567905
Primary immunodeficiency in south China: clinical features and a genetic subanalysis of 138 children.
Zeng H, Tao Y, Chen X, Zeng P, Wang B, Wei R, Yao C, Xie Y, Li F, Tang Y, Cui Y, Sun G
J Investig Allergol Clin Immunol 2013;23(5):302-8. PMID: 24260974
The X-linked hyperimmunoglobulin M syndrome.
Fuleihan RL
Semin Hematol 1998 Oct;35(4):321-31. PMID: 9801261

Therapy

Identification of germinal centres in the lymph node of a patient with hyperimmunoglobulin M syndrome associated with congenital rubella.
Ameratunga R, Chen CJ, Koopmans W, Dunbar PR, Brewerton M, Lloydd R, Mansell CJ, van Vliet C, Woon ST
J Clin Immunol 2014 Oct;34(7):796-803. Epub 2014 Aug 12 doi: 10.1007/s10875-014-0084-6. PMID: 25113848
Hyper-IgM syndrome: a case report.
Wang IJ, Wang SJ, Yan DC, Lin SJ, Chiang BL
J Microbiol Immunol Infect 2003 Sep;36(3):215-7. PMID: 14582569

Prognosis

Peripheral immune profile of children with Talaromyces marneffei infections: a retrospective analysis of 21 cases.
Zeng Q, Jin Y, Yin G, Yang D, Li W, Shi T, Lu G, Huang L, Fan H
BMC Infect Dis 2021 Mar 20;21(1):287. doi: 10.1186/s12879-021-05978-z. PMID: 33743629Free PMC Article
Atypical combined immunodeficiency due to Artemis defect: a case presenting as hyperimmunoglobulin M syndrome and with LGLL.
Bajin İY, Ayvaz DÇ, Ünal S, Özgür TT, Çetin M, Gümrük F, Tezcan İ, de Villartay JP, Sanal Ö
Mol Immunol 2013 Dec;56(4):354-7. Epub 2013 Aug 1 doi: 10.1016/j.molimm.2013.05.004. PMID: 23911390
Non-X-linked hyperimmunoglobulin M syndrome with chronic interstitial pneumonitis.
Quezada A, Norambuena X, González R, Ramos SM, Chávez A, González S
J Investig Allergol Clin Immunol 2000 Nov-Dec;10(6):375-9. PMID: 11206940

Clinical prediction guides

Peripheral immune profile of children with Talaromyces marneffei infections: a retrospective analysis of 21 cases.
Zeng Q, Jin Y, Yin G, Yang D, Li W, Shi T, Lu G, Huang L, Fan H
BMC Infect Dis 2021 Mar 20;21(1):287. doi: 10.1186/s12879-021-05978-z. PMID: 33743629Free PMC Article
Primary immunodeficiency in south China: clinical features and a genetic subanalysis of 138 children.
Zeng H, Tao Y, Chen X, Zeng P, Wang B, Wei R, Yao C, Xie Y, Li F, Tang Y, Cui Y, Sun G
J Investig Allergol Clin Immunol 2013;23(5):302-8. PMID: 24260974

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