Immunodeficiency with hyper IgM type 1

Overview

Type of disease: Rare conditions

Hyper IgM syndrome is a type of primary immunodeficiency syndrome.  Primary immunodeficiency occurs when part of a personÕs immune system is missing or does not work correctly.  The bodies of people with primary immunodeficiency canÕt get rid of germs or protect themselves from new germs as well as they should. Primary immunodeficiencies are inherited, meaning they are passed down from parents to children.  

Hyper IgM syndromes are characterized by normal or elevated serum immunoglobulin M levels with absence of immunoglobulin G, A, and E. Immunoglobulins are proteins found in the blood. Hyper IgM results in a susceptibility to bacterial infections and sometimes opportunistic infections. There are five different types of hyper IgM syndromes (types 1-5).  The types are distinguished by the location of the gene mutation involved.  

Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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