Which family history findings are characteristic of hypogammaglobulinemia?

Updated: Dec 26, 2018
  • Author: Elizabeth A Secord, MD; Chief Editor: Michael A Kaliner, MD  more...
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Answer

A family history of frequent infections, persons receiving immunoglobulin, or infants who died at an early age due to infection are all suggestive of immune deficiency.

A positive family history may suggest the diagnosis and guide testing for XLA, but a negative family history does not exclude X-linked agammaglobulinemia (Bruton agammaglobulinemia; XLA), as new mutations may constitute more than half of the cases in some series. [5]  The same is true of other X-linked immune deficiencies.

A family history of an infant with severe combined immunodeficiency (SCID) should suggest prompt testing of subsequent infants (although, most infants with SCID are now detected by newborn screening).


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