Autosomal Recessive Agammaglobulinemia (ARA) is a rare condition but should be suspected when certain clinical findings are present.
When to suspect ARA - the presence of a syndrome similar to X-linked agammaglobulinemia in one of the following:
(1) a female
(2) a family with an autosomal recessive inheritance pattern
(3) a family with consanguinity
(4) a male who tests negative for mutations in the BTK gene (located at Xq22, transcribes a tyrosine kinase protein)
Clinical findings of X-linked agammaglobulinemia:
(1) recurrent and severe bacterial infections
(2) recurrent and severe enteroviral infections
(3) absence of tonsillar and other lymphoid tissue
(4) increased frequency of autoimmune disorders
(5) increased risk for colorectal cancer
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Specialty: Immunology/Rheumatology, Infectious Diseases
ICD-10: ,
