Disorders


 

Immunodeficiency with Hyper-IgM, Type 2


Synonym(s): HIGM2, Hyper IgM Syndrome 2, Hyper-IgM Syndrome 2

 

OMIM

GeneLocusProtein
AICDA12p13Activation-induced cytidine deaminase

Laboratory Test Method Prenatal Carrier *
GeneDx - Gaithersburg, MD, USA  
Innovagenomics S.L, Innovagenomics - Salamanca, Spain• Mutation scanning of the entire coding region
  
Seattle Children's Research Institute, Immunology Diagnostics Laboratory - Seattle, WA, USA• Protein analysis
  
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands  

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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