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Title: The Novel Patient with BLNK Gene Type of Agammaglobulinemia
Authors: Nasrullayeva, Gulnara Mahammadali
Mammadova, Vafa Rustam
Khalilova, Afaq Vladimr
Shahgeldiyeva, Shabnam Eldar
Keywords: BLNK Gene
Rheumatoid Arthritis
Issue Date: 2017
Publisher: OALib Journal
Series/Report no.: Vol. 4;
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.
ISSN: 2333-9721
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