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GENATLAS PHENOTYPE

last update : 13-01-2022

Symbol	AGMAR
Location	14q32.33
Name	agammaglobulinemia, non-Bruton type
Other name(s)	agammaglobulinemia due to early proB defect Agammaglobulinemia 1
Corresponding gene	IGHM
Other symbol(s)	IGM, AGM1
Main clinical features	early-onset infections, profound hypogammaglobulinemia of all immunoglobulin isotypes and absence of circulating B lymphocytes early block of B-cell development in the bone marrow resulting in the absence of peripheral B cells and low/absent immunoglobulin serum levels
Genetic determination	autosomal recessive
	autosomal dominant
Related entries	IGLL1
Function/system disorder	defense and immunity
Type	disease

Gene product

Name	immunoglobulin, mu (IGHM)

Remark(s)

rare and heterogeneous disorder; mutations in components of the pre-B-cell receptor (pre-BCR), such as mu heavy chain, surrogate light chain, Igalpha and Igbeta have been found in 85% to 90% of patients affected by this disease