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Autosomal recessive hyperimmunoglobulin M syndrome

MedGen UID:
698425
•Concept ID:
C1275128
•
Disease or Syndrome
Synonyms: Autosomal recessive hyper- immunoglobulin M syndrome; Autosomal recessive hyper-IgM syndrome
SNOMED CT: Autosomal recessive hyper-IgM syndrome (403836001); Autosomal recessive hyper- immunoglobulin M syndrome (403836001); Autosomal recessive hyperimmunoglobulin M syndrome (403836001)

Professional guidelines

PubMed

The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management.
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
Prenatal diagnosis and genetic analysis of X-linked immunodeficiency disorders.
Puck JM
Pediatr Res 1993 Jan;33(1 Suppl):S29-33; discussion S33-4. doi: 10.1203/00006450-199305001-00158. PMID: 8433872

Recent clinical studies

Etiology

Effect of Class Switch Recombination Defect on the Phenotype of Ataxia-Telangiectasia Patients.
Amirifar P, Mozdarani H, Yazdani R, Kiaei F, Moeini Shad T, Shahkarami S, Abolhassani H, Delavari S, Sohani M, Rezaei A, Hassanpour G, Akrami SM, Aghamohammadi A
Immunol Invest 2021 Feb;50(2-3):201-215. Epub 2020 Mar 2 doi: 10.1080/08820139.2020.1723104. PMID: 32116070
Novel AICDA mutation in a case of autosomal recessive hyper-IgM syndrome, growth hormone deficiency and autoimmunity.
Fazel A, Kashef S, Aleyasin S, Harsini S, Karamizadeh Z, Zoghi S, Flores SK, Boztug K, Rezaei N
Allergol Immunopathol (Madr) 2017 Jan-Feb;45(1):82-86. Epub 2016 Oct 24 doi: 10.1016/j.aller.2016.08.005. PMID: 27789066
Autosomal recessive hyper IgM syndrome associated with activation-induced cytidine deaminase gene in three Turkish siblings presented with tuberculosis lymphadenitis - Case report.
Patiroglu T, Akar HH, van der Burg M, Unal E
Acta Microbiol Immunol Hung 2015 Sep;62(3):267-74. doi: 10.1556/030.62.2015.3.4. PMID: 26551569
The hyper IgM syndromes.
Qamar N, Fuleihan RL
Clin Rev Allergy Immunol 2014 Apr;46(2):120-30. doi: 10.1007/s12016-013-8378-7. PMID: 23797640
Novel mutation of the activation-induced cytidine deaminase gene in a Tajik family: special review on hyper-immunoglobulin M syndrome.
Mahdaviani SA, Hirbod-Mobarakeh A, Wang N, Aghamohammadi A, Hammarström L, Masjedi MR, Pan-Hammarström Q, Rezaei N
Expert Rev Clin Immunol 2012 Aug;8(6):539-46. doi: 10.1586/eci.12.46. PMID: 22992148

Diagnosis

The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management.
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
The hyper IgM syndromes.
Qamar N, Fuleihan RL
Clin Rev Allergy Immunol 2014 Apr;46(2):120-30. doi: 10.1007/s12016-013-8378-7. PMID: 23797640
A novel activation-induced cytidine deaminase (AID) mutation in Brazilian patients with hyper-IgM type 2 syndrome.
Caratão N, Cortesão CS, Reis PH, Freitas RF, Jacob CM, Pastorino AC, Carneiro-Sampaio M, Barreto VM
Clin Immunol 2013 Aug;148(2):279-86. Epub 2013 Jun 7 doi: 10.1016/j.clim.2013.05.017. PMID: 23803409
Ataxia-telangiectasia with hyper-IgM and Wilms tumor: fatal reaction to irradiation.
Pietrucha BM, Heropolitańska-Pliszka E, Wakulińska A, Skopczyńska H, Gatti RA, Bernatowska E
J Pediatr Hematol Oncol 2010 Jan;32(1):e28-30. doi: 10.1097/MPH.0b013e3181bfd3d9. PMID: 20051774
Unusual and severe disease course in a child with ataxia-telangiectasia.
Meyts I, Weemaes C, De Wolf-Peeters C, Proesmans M, Renard M, Uyttebroeck A, De Boeck K
Pediatr Allergy Immunol 2003 Aug;14(4):330-3. doi: 10.1034/j.1399-3038.2003.00037.x. PMID: 12911515

Therapy

Novel AICDA mutation in a case of autosomal recessive hyper-IgM syndrome, growth hormone deficiency and autoimmunity.
Fazel A, Kashef S, Aleyasin S, Harsini S, Karamizadeh Z, Zoghi S, Flores SK, Boztug K, Rezaei N
Allergol Immunopathol (Madr) 2017 Jan-Feb;45(1):82-86. Epub 2016 Oct 24 doi: 10.1016/j.aller.2016.08.005. PMID: 27789066
Immunodeficiency with hyper-IgM (HIM).
Notarangelo LD, Duse M, Ugazio AG
Immunodefic Rev 1992;3(2):101-21. PMID: 1554497

Prognosis

The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management.
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
Evaluation of B lymphocyte deficiencies.
Vickery JD, Michael CF, Lew DB
Cardiovasc Hematol Disord Drug Targets 2013 Aug;13(2):133-43. doi: 10.2174/1871529x11313020006. PMID: 23988001
Ataxia-telangiectasia with hyper-IgM and Wilms tumor: fatal reaction to irradiation.
Pietrucha BM, Heropolitańska-Pliszka E, Wakulińska A, Skopczyńska H, Gatti RA, Bernatowska E
J Pediatr Hematol Oncol 2010 Jan;32(1):e28-30. doi: 10.1097/MPH.0b013e3181bfd3d9. PMID: 20051774
Unusual and severe disease course in a child with ataxia-telangiectasia.
Meyts I, Weemaes C, De Wolf-Peeters C, Proesmans M, Renard M, Uyttebroeck A, De Boeck K
Pediatr Allergy Immunol 2003 Aug;14(4):330-3. doi: 10.1034/j.1399-3038.2003.00037.x. PMID: 12911515
Immunodeficiency with hyper-IgM (HIM).
Notarangelo LD, Duse M, Ugazio AG
Immunodefic Rev 1992;3(2):101-21. PMID: 1554497

Clinical prediction guides

A Novel AICDA Splice-Site Mutation in Two Siblings with HIGM2 Permits Somatic Hypermutation but Abrogates Mutational Targeting.
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
Effect of Class Switch Recombination Defect on the Phenotype of Ataxia-Telangiectasia Patients.
Amirifar P, Mozdarani H, Yazdani R, Kiaei F, Moeini Shad T, Shahkarami S, Abolhassani H, Delavari S, Sohani M, Rezaei A, Hassanpour G, Akrami SM, Aghamohammadi A
Immunol Invest 2021 Feb;50(2-3):201-215. Epub 2020 Mar 2 doi: 10.1080/08820139.2020.1723104. PMID: 32116070
Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland.
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
Morbidity and mortality of Iranian patients with hyper IgM syndrome: a clinical analysis.
Abolhassani H, Akbari F, Mirminachi B, Bazregari S, Hedayat E, Rezaei N, Aghamohammadi A
Iran J Immunol 2014 Jun;11(2):123-33. PMID: 24975969
Hyper-immunoglobulin M syndrome type 3 with normal CD40 cell surface expression.
Karaca NE, Forveille M, Aksu G, Durandy A, Kutukculer N
Scand J Immunol 2012 Jul;76(1):21-5. doi: 10.1111/j.1365-3083.2012.02697.x. PMID: 22443339

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