A Novel Activation-Induced Cytidine Deaminase (AID) Mutation in an Adult with Hyper-IgM Syndrome (HIMS)

Abstract

The hyper-immunoglobulin M (HIGM) syndromes are a group of immunodeficiencies that exhibit low or absent levels of immunoglobulin G (IgG), immunoglobulin A (IgA), immunoglobulin E (IgE), and normal to high levels of immunoglublin M (IgM) [1]. These syndromes are characterized by inherited defects in genes encoding for the CD40L or CD40 molecule, or defects in class-switch recombination (CSR) in B cells [2]. Activation-induced cytidine deaminase (AID) is a protein that is required for CSR in B cell differentiation [3,5]. A mutation in the activation-induced cytidine deaminase (AICDA) gene that encodes AID, causes the autosomal recessive (AR) form of HIGM syndrome known as HIGM2 [2,4]. This syndrome results in recurrent sinopulmonary infections by encapsulated bacteria, meningitis, gastrointestinal infections, lymphoid hyperplasia, and autoimmune conditions [2]. We report a case of a novel autosomal dominant (AD) mutation in the AID gene that has not been previously reported.

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Document Details

Document Type
Technical Report
Publication Date
Oct 01, 2020
Accession Number
AD1111283

Entities

People

  • Anthony Infante
  • James Quinn
  • Jun Mendoza
  • Nutchaya Amornruk
  • Priya Nath

Organizations

  • 59th Medical Wing

Tags

Communities of Interest

  • Biomedical

DTIC Thesaurus Topics

  • Allergy And Immunology
  • Autoimmune Diseases
  • Bacterial Infections
  • Cell Physiological Processes
  • Cells
  • Diseases And Disorders
  • Ear Diseases
  • Genes
  • Genetics
  • Health Services
  • Immunoglobulins
  • Infection
  • Lung Diseases
  • Lymphocytes
  • Medical Genetics
  • Mutations
  • Wound Infections

Fields of Study

  • Biology
  • Medicine

Readers

  • Immunology
  • Molecular and genetic basis of cancer.