Which physical findings are characteristic of agammaglobulinemia (hypogammaglobulinemia)?

Updated: Jul 08, 2019
  • Author: Donald A Person, MD, FAAP, FACR; Chief Editor: Harumi Jyonouchi, MD  more...
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Patients with agammaglobulinemia appear to be healthy between bouts of infections. Patients usually do not fail to thrive, although chronic diarrhea, if present, could cause some dehydration and malabsorption. Any abnormal physical findings indicate presence of various infections for which patients have increased susceptibility. Concomitant short stature in a male suggests X-linked hypogammaglobulinemia with growth hormone deficiency syndrome.

Most patients with agammaglobulinemia were recognized to have immunodeficiency during or shortly after their first hospitalization for infection. Most of the patients had a history of recurrent otitis or upper respiratory tract infection at the time of diagnosis, which when combined with the physical finding of markedly small or absent tonsils and cervical lymph nodes, should alert physicians to the diagnosis of agammaglobulinemia.

Some patients have cutaneous manifestations representing several unique syndromes. One of these is known as WHIM syndrome, consisting of warts, hypogammaglobulinemia, infections, and myelokathexis. The gene responsible for this syndrome has been identified as a chemokine receptor CXCR4. [41]

The concomitant occurrence of hypogammaglobulinemia and thymoma is known as Good syndrome. [42] These patients appear to have more severe cellular deficiency with the possibility of opportunistic infections.

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