Disorders

Immunodeficiency with Hyper-IgM, Type 2

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

Gene	Locus	Protein
AICDA	12p13	Activation-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.