In 1952 Bruton1 reported the first known case of agammaglobulinemia. With newer refinements in methods of analysis of serum proteins, a clearer concept of this syndrome has developed.
In brief, the clinical features of agammaglobulinemia or hypogammaglobulinemia are:
Extreme susceptibility to infection
Low to absent γ-globulin in the serum
Immunologic unresponsiveness to antigenic challenge
Frequent clinical improvement of symptoms with γ-globulin therapy.
Physical examination usually reveals no abnormalities, although there may be a generalized decrease in lymphoid tissue and lack of regional lymphadenopathy in response to local infection.2
Because of the lack of specificity of signs and symptoms, only a high index of suspicion and the use of appropriate laboratory studies can lead to the correct diagnosis. On routine determination of total serum proteins a globulin of 1 gm. % or less is suggestive of hypogammaglobulinemia. The diagnosis can be confirmed by serum electrophoresis or immunochemical analysis. Other laboratory findings
ABELE DC, DOBSON RL, NEWSOME JF, LINEBERGER AS. Progressive Fatal Cutaneous Gangrene Associated with Hypogammaglobulinemia. Arch Dermatol. 1960;82(4):565–569. doi:10.1001/archderm.1960.01580040083014
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