Background:
Agammaglobulinemia (AGM) is a genetic immune system disorder in which the body
could not produce antibodies. There are two types of this disease: X-linked AGM
(XLA) and autosomal forms. X-linked agammaglobulinemia results from a mutation
in the gene for Bruton’s tyrosine kinase (BTK), found on the X chromosome.
Mutations in BTK result in lack of mature B-cells and immunoglobulins of all
classes. There are 8 types of autosomal forms which are reflected in different
defective genes. 7-year-old male patient at the age of 1-6, was
encountered the recurrent broncho-pulmonary and gastro-intestinal infections,
furunculosis and recurrent otitis. Also, because of the strain, pain and swelling
on the 4th finger of the right hand it was suspected that the
patient had rheumatoid arthritis. On immunological investigation, we have found
out of absent of B lymphocyte. Level of IgG was 10 times less; IgA, IgM and IgE levels were 3 to 8 times less than the
norm. Quantity of T-lymphocytes: absolute number of CD4 lymphocytes increased,
CD3 and CD8 lymphocytes were also high. Phagocyte activity in NBT, absolute
number of NK cells and IRI index were 2 times lower than the norm. Genetically
analysis has discovered the presence of abnormal homozygous BLNK gene.
Cite this paper
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