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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Hyper-IgM syndrome type 4

Introduction


Hyper-IgM syndrome type 4 is a form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair Somatic Hyper Mutation.[1]

References

  1. ↑ Lougaris V, Badolato R, Ferrari S, Plebani A (2005). “Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features”. Immunol. Rev. 203: 48–66. doi:10.1111/j.0105-2896.2005.00229.x. PMID 15661021.