Identification of Germinal Centres in the Lymph Node of a Patient with Hyperimmunoglobulin M Syndrome Associated with Congenital Rubella

Ameratunga, Rohan; Chen, Chun-Jen J.; Koopmans, Wikke; Dunbar, P. Rod; Brewerton, Maia; Lloydd, Richard; Mansell, Claudia; Vliet, Chris Van; Woon, See‐Tarn

doi:10.1007/s10875-014-0084-6

Cited by 3 publications

(1 citation statement)

References 30 publications

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“…In addition, congenital rubella has been linked with acquisition of a HIGM phenotype in several patients [ 5 , 6 ]. Congenital rubella is known to inflict multiple insults onto the developing fetus including cardiac defects, sensorineural hearing loss and immunological perturbations [ 7 ]. Patients with congenital rubella-induced HIGM have normal CD40L expression and function, normal CD40LG , AICDA and UNG sequencing, with the purported mechanism being a defect in antibody secretion from B cells [ 8 , 9 ].…”

Section: Discussionmentioning

confidence: 99%

Hyper-IgM and acquired C1q complement deficiency in a patient withde novo ATMmutation

Lee

Dai

Burnett

et al. 2023

Oxford Medical Case Reports

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Hyper-IgM syndrome (HIGM) is a rare immunodeficiency phenotype that is usually accompanied by serious infections. We present a curious case of the incidental detection of HIGM in a 45-year-old male with complement C1q deficiency. He had relatively mild sinopulmonary infections, recurrent skin infections and lipomas in his adulthood. Investigations revealed normal enumeration of total peripheral blood B cells and reduced expression of CD40L on his CD4+ T cells. C1q was noted to be absent, due to a peripheral inhibitor such as an autoantibody. Genomic sequencing of the patient and his parents revealed a novel, de novo heterozygous mutation in the ATM (ataxia telangiectasia mutated) gene although he displayed no clinical evidence of ataxia telangiectasia. This is a rare case of HIGM and acquired C1q deficiency. We present full phenotyping data that contributes to the growing understanding to these interesting immunodeficiencies.

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Section: Discussionmentioning

confidence: 99%

Hyper-IgM and acquired C1q complement deficiency in a patient withde novo ATMmutation

Lee

Dai

Burnett

et al. 2023

Oxford Medical Case Reports

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SARS-CoV-2 the ASIA virus (Autoimmune/autoinflammatory Syndrome Induced by Adjuvants), the risk of infertility and vaccine hesitancy

Ameratunga

2022

Expert Review of Vaccines

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Severe COVID-19 is a T cell immune dysregulatory disorder triggered by SARS-CoV-2

Ameratunga

Woon

Steele

et al. 2022

Expert Review of Clinical Immunology

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Identification of Germinal Centres in the Lymph Node of a Patient with Hyperimmunoglobulin M Syndrome Associated with Congenital Rubella

Abstract: In contrast to XHIM where germinal centres are absent, the presence of small numbers of relatively normal germinal centres explain our previous identification of isotype switched memory B cells in rHIM.

Cited by 3 publications

References 30 publications

Hyper-IgM and acquired C1q complement deficiency in a patient withde novo ATMmutation

Hyper-IgM and acquired C1q complement deficiency in a patient withde novo ATMmutation

SARS-CoV-2 the ASIA virus (Autoimmune/autoinflammatory Syndrome Induced by Adjuvants), the risk of infertility and vaccine hesitancy

Severe COVID-19 is a T cell immune dysregulatory disorder triggered by SARS-CoV-2

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