Agammaglobulinemia 9, autosomal recessive
Agammaglobulinemia 9, autosomal recessive
Definition
An autosomal recessive primary immunodeficiency characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells. Additional features include failure to thrive and skin involvement. The severity is variable: more severe cases may require hematopoietic stem cell transplantation, whereas others can be treated effectively with Ig replacement therapy.
Also known as AGM9 — per MONDO