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http://hdl.handle.net/20.500.12323/3684
2024-03-28T16:36:08ZThe Novel Patient with BLNK Gene Type of Agammaglobulinemia
http://hdl.handle.net/20.500.12323/3685
Title: The Novel Patient with BLNK Gene Type of Agammaglobulinemia
Authors: Nasrullayeva, Gulnara Mahammadali; Mammadova, Vafa Rustam; Khalilova, Afaq Vladimr; Shahgeldiyeva, Shabnam Eldar
Abstract: 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.2017-01-01T00:00:00Z