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Year Number of Results
2003 2
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2006 1
2007 3
2008 3
2009 5
2010 3
2012 2
2013 2
2014 1
2015 3
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2017 3
2018 6
2019 1
2020 3
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Page 1
Respiratory Complications in Patients with Hyper IgM Syndrome.
Moazzami B, Yazdani R, Azizi G, Kiaei F, Tafakori M, Modaresi M, Shirzadi R, Mahdaviani SA, Sohani M, Abolhassani H, Aghamohammadi A. Moazzami B, et al. J Clin Immunol. 2019 Aug;39(6):557-568. doi: 10.1007/s10875-019-00650-3. Epub 2019 Jun 11. J Clin Immunol. 2019. PMID: 31183658
PURPOSE: Hyper Immunoglobulin M (HIgM) syndrome is a heterogeneous group of primary immunodeficiency disorders, characterized by recurrent infections and associated with decreased serum IgG and IgA, but normal or increased IgM. The aim of the present s …
PURPOSE: Hyper Immunoglobulin M (HIgM) syndrome is a heterogeneous group of primary immunodeficiency disorders, charact …
Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations.
Aghamohammadi A, Parvaneh N, Rezaei N, Moazzami K, Kashef S, Abolhassani H, Imanzadeh A, Mohammadi J, Hammarström L. Aghamohammadi A, et al. J Clin Immunol. 2009 Nov;29(6):769-76. doi: 10.1007/s10875-009-9315-7. Epub 2009 Jul 3. J Clin Immunol. 2009. PMID: 19575287
BACKGROUND: Hyper-immunoglobulin M (HIGM) syndromes are a heterogeneous group of primary immunodeficiency disorders, characterized by recurrent infections associated with decreased serum levels of immunoglobulin G (IgG) and IgA and normal to increased serum levels o …
BACKGROUND: Hyper-immunoglobulin M (HIGM) syndromes are a heterogeneous group of primary immunodeficiency disorders, character …
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. Fazel A, et al. Allergol Immunopathol (Madr). 2017 Jan-Feb;45(1):82-86. doi: 10.1016/j.aller.2016.08.005. Epub 2016 Oct 24. Allergol Immunopathol (Madr). 2017. PMID: 27789066
BACKGROUND: The Hyper-immunoglobulin M syndromes (HIGM) are a heterogeneous group of genetic disorders, which have been rarely reported to be associated with growth hormone deficiency (GHD). ...CONCLUSIONS: To our knowledge, this is a new AICDA mutation, which has n …
BACKGROUND: The Hyper-immunoglobulin M syndromes (HIGM) are a heterogeneous group of genetic disorders, which have been rarely report …
Novel mutations in hyper-IgM syndrome type 2 and X-linked agammaglobulinemia detected in three patients with primary immunodeficiency disease.
Chen X, Liu F, Yuan L, Zhang M, Chen K, Wu Y. Chen X, et al. Mol Genet Genomic Med. 2021 Jan;9(1):e1552. doi: 10.1002/mgg3.1552. Epub 2020 Dec 30. Mol Genet Genomic Med. 2021. PMID: 33377626 Free PMC article.
In silico analysis revealed that identified substituted amino acids were highly conserved and predicted to cause structural and functional damage to the proteins. CONCLUSION: Four pathogenic variants in AICDA and BTK were confirmed to cause different forms of hyper- …
In silico analysis revealed that identified substituted amino acids were highly conserved and predicted to cause structural and functional d …
A Hyper-IgM Syndrome Mutation in Activation-Induced Cytidine Deaminase Disrupts G-Quadruplex Binding and Genome-wide Chromatin Localization.
Yewdell WT, Kim Y, Chowdhury P, Lau CM, Smolkin RM, Belcheva KT, Fernandez KC, Cols M, Yen WF, Vaidyanathan B, Angeletti D, McDermott AB, Yewdell JW, Sun JC, Chaudhuri J. Yewdell WT, et al. Immunity. 2020 Nov 17;53(5):952-970.e11. doi: 10.1016/j.immuni.2020.10.003. Epub 2020 Oct 23. Immunity. 2020. PMID: 33098766 Free PMC article.
Here, we examined the contribution of G-quadruplex (G4) nucleic acid structures to AID targeting in vivo. Mice bearing a mutation in Aicda (AID(G133V)) that disrupts AID-G4 binding modeled the pathology of hyper-IgM syndrome patients with an orthologou …
Here, we examined the contribution of G-quadruplex (G4) nucleic acid structures to AID targeting in vivo. Mice bearing a mutation in Aicd
Regulation of aicda expression and AID activity: relevance to somatic hypermutation and class switch DNA recombination.
Xu Z, Pone EJ, Al-Qahtani A, Park SR, Zan H, Casali P. Xu Z, et al. Crit Rev Immunol. 2007;27(4):367-97. doi: 10.1615/critrevimmunol.v27.i4.60. Crit Rev Immunol. 2007. PMID: 18197815 Free PMC article. Review.
Expression and activity of activation-induced cytidine deaminase (AID) encoded by the aicda gene are essential for immunoglobulin (Ig) gene somatic hypermutation (SHM) and class switch DNA recombination (CSR). ...Integration of different intracellular signal transduction p …
Expression and activity of activation-induced cytidine deaminase (AID) encoded by the aicda gene are essential for immunoglobulin (Ig …
Type 2 hyper-IgM syndrome with a rare variant of AICDA gene mutation in a young woman.
Prakash PR, Gupta G, Aggarwal M, Baitha U. Prakash PR, et al. BMJ Case Rep. 2023 Mar 17;16(3):e253878. doi: 10.1136/bcr-2022-253878. BMJ Case Rep. 2023. PMID: 36931691
She was started on supportive care and evaluated for primary immunodeficiency disease. Blood investigations revealed increased IgM levels with reduced IgG, IgA and IgE levels. ...Next-generation sequencing identified homozygous single base pair deletion in exon 2 of …
She was started on supportive care and evaluated for primary immunodeficiency disease. Blood investigations revealed increased IgM
Genetic Analysis of Patients with Two Different Types of Hyper IgM Syndrome.
Alizadeh Z, Mazinani M, Houshmand M, Shakerian L, Nourizadeh M, Pourpak Z, Fazlollahi MR. Alizadeh Z, et al. Immunol Invest. 2018 Oct;47(7):745-753. doi: 10.1080/08820139.2018.1493052. Epub 2018 Aug 6. Immunol Invest. 2018. PMID: 30081731
BACKGROUND: Hyper IgM Syndrome (HIGM) is a rare primary immunodeficiency in which impairment of class switching recombination (CSR) and somatic hyper-mutation (SHM) leads to recurrent infections. ...CONCLUSION: The study results may provide valu …
BACKGROUND: Hyper IgM Syndrome (HIGM) is a rare primary immunodeficiency in which impairment of class switching …
46 results