hypogammaglobulinemia; immunoglobulin deficiency

Etiology

• primary hypogammaglobulinemia - immunodeficiency syndromes
• secondary hypogammaglobulinemia
  • nephrotic syndrome
  • protein-losing enteropathy

Pathology

• may be markedly reduced, but not absent, B-cells

Genetics

• associated with defects in CD19
• associated with defects in CD79B

Clinical manifestations

• frequent infections
• abdominal pain

Laboratory

• quantitative immunoglobulins in serum
• low serum albumin suggests secondary hypogammaglobulinemia
• proteinuria suggests nephrotic syndrome

Radiology

• chest X-ray & high-resolution computed tomography (CT) of thorax may show bronchiectasis

Complications

• humoral immune dysfunction
• bronchiectasis

Management

• immunoglobulin replacement
  • not helpful in secondary hypogammaglobulinemia because proteins are rapidly lost in the urine or feces

More general terms

• blood protein disorder
• immunodeficiency; immunodeficiency syndrome

More specific terms

• agammaglobulinemia

Additional terms

• humoral immune dysfunction
• nephrotic syndrome

Database

• OMIM: https://mirror.omim.org/entry/107265
• OMIM: https://mirror.omim.org/entry/612692