The Novel Patient with BLNK Gene Type of Agammaglobulinemia - Open Access Library Journal

OALibJ > Vol.4 No.11, November 2017

The Novel Patient with BLNK Gene Type of Agammaglobulinemia ()

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DOI: 10.4236/oalib.1104114 577 Downloads 1,210 Views Citations

Author(s)

Gulnara Mahammadali Nasrullayeva¹, Vafa Rustam Mammadova¹, Afaq Vladimr Khalilova¹, Shabnam Eldar Shahgeldiyeva²

Affiliation(s)

¹Azerbaijan Medical University, Immunology Department, Baku, Azerbaijan.
²Khazar University, Baku, Azerbaijan.

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 4^th 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.

KEYWORDS

BLNK Gene, Rheumatoid Arthritis, Agammaglobulinemia

Share and Cite:

Nasrullayeva, G. , Mammadova, V. , Khalilova, A. and Shahgeldiyeva, S. (2017) The Novel Patient with BLNK Gene Type of Agammaglobulinemia. Open Access Library Journal, 4, 1-7. doi: 10.4236/oalib.1104114.

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