Agammaglobulinemia1, autosomal recessive D81.4

Last updated on: 10.06.2022

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Agammaglobulinemia is a primary immunodeficiency characterized by very low or absent serum antibodies and low or absent circulating B cells due to early blockade of B cell development. Affected individuals develop severe infections in the first few years of life.

The most common form of agammaglobulinemia is X-linked agammaglobulinemia (AGMX1, XLA; 300755), also known as Bruton disease, which is caused by a mutation in the BTK gene (300300).

AGMX1 accounts for 85 to 95% of male patients with the characteristic findings (Lopez Granados et al., 2002; Ferrari et al., 2007).

An autosomal recessive inheritance of agammaglobulinemia, which has a similar phenotype to the X-linked form, has been observed in a small number of families and accounts for up to 15% of patients with agammaglobulinemia (Ferrari et al., 2007). Conley (1999) provided a comprehensive review of autosomal recessive agammaglobulinemia.


Agammaglobulinemia 3, mutation in CD79A.

Agammaglobulinemia 6, mutation in CD79B

Case report(s)
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Meffre et al (1996) described a young patient with severe agammaglobulinemia in whom they demonstrated, by detailed analysis of B-cell subpopulations and B-cell-specific transcripts, blockage at an early pro-B-cell stage of the B-cell differentiation pathway before the onset of immunoglobulin gene rearrangement. The data demonstrated a novel genetic defect that led to an arrest of differentiation within the pro-B cell compartment, earlier than in X-linked agammaglobulinemia.

Lopez Granados et al (2002) reported 6 families with agammaglobulinemia-1 confirmed by mutational analysis of the IGHM gene. The families were from different countries, including Sweden, Spain, Italy, and Argentina. All patients had recurrent infections during the first year of life. Infections included pneumonia, otitis media, conjunctivitis, sinusitis, Pseudomonas infections, and enteroviral infections. Many patients suffered from failure to thrive and diarrhea. Some had neutropenia, 1 had skin infections, and several developed bronchiectasis. The phenotype was generally more severe than in X-linked agammaglobulinemia; patients with IGHM mutations had earlier onset of disease and more severe complications. However, most patients responded well to treatment with gamma globulin.

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  1. Conley ME et al (1992) Females with a disorder phenotypically identical to X-linked agammaglobulinemia. J Clin Immun 12: 139-143.
  2. Lopez Granados E et al (2002) Clinical and molecular analysis of patients with defects in mu heavy chain gene. J Clin Invest 110: 1029-1035.
  3. McKinney RE et al (1987) Chronic enteroviral meningoencephalitis in agammaglobulinemic patients. Rev Infect Dis 9: 334-356.
  4. Meffre E et al (1996) A human non-XLA immunodeficiency disease characterized by blockage of B cell development at an early proB cell stage. J Clin Invest 98: 1519-1526.
  5. Phung ND et al (1983) Familial hypogammaglobulinemia: genetic linkage with alpha-1-antitrypsin deficiency. Arch Intern Med 143: 575-577.
  6. Phung ND et al (1982) Alpha-1-antitrypsin deficiency and common variable hypogammaglobulinemia in a patient with asthma. Chest 81: 112-115.
  7. Urbanek P et al.(1994) Complete block of early B cell differentiation and altered patterning of the posterior midbrain in mice lacking Pax5/BSAP. Cell 79: 901-912.


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Last updated on: 10.06.2022