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Agammaglobulinemia 8b, autosomal recessive
Autosomal recessive agammaglobulinemia-8B (AGM8B) is characterized by onset of recurrent infections in early childhood. Laboratory studies of affected individuals show decreased circulating immunoglobulins and decreased peripheral B cells. More variable features may include dysmorphic facies and subtle abnormalities of other immune cells, such as T cells. One patient who developed childhood B-cell acute lymphocytic leukemia (B-ALL) has been described (summary by Ben-Ali et al., 2017). [from OMIM]
Agammaglobulinemia 8, autosomal dominant
Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene. [from MONDO]
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