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Hyper-IgM syndrome type 2(HIGM2)

MedGen UID:
354548
Concept ID:
C1720956
Disease or Syndrome
Synonyms: Hyper-IgM Immunodeficiency Syndrome, Type 2; Immunodeficiency with hyper IgM type 2
 
Gene (location): AICDA (12p13.31)
 
Monarch Initiative: MONDO:0011528
OMIM®: 605258
Orphanet: ORPHA101089

Definition

Hyper-IgM syndrome type 2 (HIGM2) is a rare immunodeficiency characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections. For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230). [from OMIM]

Clinical features

From HPO
Recurrent infection of the gastrointestinal tract
MedGen UID:
343135
Concept ID:
C1854495
Disease or Syndrome
Recurrent infection of the gastrointestinal tract.
Recurrent upper and lower respiratory tract infections
MedGen UID:
375014
Concept ID:
C1842777
Finding
Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Immunodeficiency
MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
Decreased circulating IgA level
MedGen UID:
57934
Concept ID:
C0162538
Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
Lymphadenopathy
MedGen UID:
96929
Concept ID:
C0497156
Disease or Syndrome
Enlargment (swelling) of a lymph node.
Increased circulating IgM level
MedGen UID:
333454
Concept ID:
C1839972
Finding
An abnormally increased level of immunoglobulin M in blood.
Impaired Ig class switch recombination
MedGen UID:
374953
Concept ID:
C1842528
Finding
An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE.
Recurrent bacterial infections
MedGen UID:
334943
Concept ID:
C1844383
Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
Complete or near-complete absence of specific antibody response to tetanus vaccine
MedGen UID:
1687415
Concept ID:
C5139458
Finding
The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.
Decreased circulating IgG level
MedGen UID:
1720114
Concept ID:
C5234937
Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHyper-IgM syndrome type 2
Follow this link to review classifications for Hyper-IgM syndrome type 2 in Orphanet.

Professional guidelines

PubMed

Costa-Carvalho BT, Sullivan KE, Fontes PM, Aimé-Nobre F, Gonzales IGS, Lima ES, Granato C, de Moraes-Pinto MI
J Clin Immunol 2018 Jul;38(5):628-634. Epub 2018 Jul 14 doi: 10.1007/s10875-018-0531-x. PMID: 30006913

Recent clinical studies

Diagnosis

Prakash PR, Gupta G, Aggarwal M, Baitha U
BMJ Case Rep 2023 Mar 17;16(3) doi: 10.1136/bcr-2022-253878. PMID: 36931691Free PMC Article
Chen X, Liu F, Yuan L, Zhang M, Chen K, Wu Y
Mol Genet Genomic Med 2021 Jan;9(1):e1552. Epub 2020 Dec 30 doi: 10.1002/mgg3.1552. PMID: 33377626Free PMC Article
de la Varga-Martínez R, Vilches-Moreno M, Viejo-Almanzor A, Pérez-Requena J, Rodríguez C, Mora-López F
J Investig Allergol Clin Immunol 2020;30(5):362-364. Epub 2020 Jul 21 doi: 10.18176/jiaci.0504. PMID: 32694097
Tsujita Y, Imai K, Honma K, Kamae C, Horiuchi T, Nonoyama S
J Clin Immunol 2018 Jan;38(1):144-148. Epub 2017 Dec 19 doi: 10.1007/s10875-017-0466-7. PMID: 29255996
Trotta L, Hautala T, Hämäläinen S, Syrjänen J, Viskari H, Almusa H, Lepisto M, Kaustio M, Porkka K, Palotie A, Seppänen M, Saarela J
Eur J Hum Genet 2016 Oct;24(10):1473-8. Epub 2016 May 4 doi: 10.1038/ejhg.2016.37. PMID: 27142677Free PMC Article

Therapy

Tsujita Y, Imai K, Honma K, Kamae C, Horiuchi T, Nonoyama S
J Clin Immunol 2018 Jan;38(1):144-148. Epub 2017 Dec 19 doi: 10.1007/s10875-017-0466-7. PMID: 29255996

Prognosis

Chen X, Liu F, Yuan L, Zhang M, Chen K, Wu Y
Mol Genet Genomic Med 2021 Jan;9(1):e1552. Epub 2020 Dec 30 doi: 10.1002/mgg3.1552. PMID: 33377626Free PMC Article

Clinical prediction guides

Dirks J, Haase G, Cantaert T, Frey L, Klaas M, Rickert CH, Girschick H, Meffre E, Morbach H
J Clin Immunol 2022 May;42(4):771-782. Epub 2022 Mar 5 doi: 10.1007/s10875-022-01233-5. PMID: 35246784Free PMC Article
Chen X, Liu F, Yuan L, Zhang M, Chen K, Wu Y
Mol Genet Genomic Med 2021 Jan;9(1):e1552. Epub 2020 Dec 30 doi: 10.1002/mgg3.1552. PMID: 33377626Free PMC Article
Trotta L, Hautala T, Hämäläinen S, Syrjänen J, Viskari H, Almusa H, Lepisto M, Kaustio M, Porkka K, Palotie A, Seppänen M, Saarela J
Eur J Hum Genet 2016 Oct;24(10):1473-8. Epub 2016 May 4 doi: 10.1038/ejhg.2016.37. PMID: 27142677Free PMC Article

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