Disorders


 

Immunodeficiency with Hyper-IgM, Type 3


Synonym(s): CD40 Deficiency, Hyper IgM Syndrome 3

 

OMIM

GeneLocusProtein
CD4020q12-q13.2Tumor necrosis factor receptor superfamily member 5

Laboratory Test Method Prenatal Carrier *
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
Seattle Children's Research Institute, Immunology Diagnostics Laboratory - Seattle, WA, USA• Sequence analysis of the entire coding region
• Protein expression

* 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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