Diagnosis of a case of X-linked agammaglobulinemia with juvenile idiopathic arthritis and recurrent pneumonia in Bangladesh
X-linked agammaglobulinemia (XLA) is a rare hereditary primary immunodeficiency disorder caused by mutation in the Bruton's tyrosine kinase (BTK) gene located in the Xq22 region of the X chromosome. It is characterized by absolute or marked deficiency of matured B-cells in circulation as well a...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2023-01-01
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| Series: | Indian Journal of Allergy Asthma and Immunology |
| Subjects: | |
| Online Access: | http://www.ijaai.in/article.asp?issn=0972-6691;year=2023;volume=37;issue=2;spage=56;epage=59;aulast=Sarker |
| _version_ | 1797246491217100800 |
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| author | Avizit Sarker Mohammad Imnul Islam Ismet Nigar Md Eunus Ali Chandan Kumar Roy |
| author_facet | Avizit Sarker Mohammad Imnul Islam Ismet Nigar Md Eunus Ali Chandan Kumar Roy |
| author_sort | Avizit Sarker |
| collection | DOAJ |
| description | X-linked agammaglobulinemia (XLA) is a rare hereditary primary immunodeficiency disorder caused by mutation in the Bruton's tyrosine kinase (BTK) gene located in the Xq22 region of the X chromosome. It is characterized by absolute or marked deficiency of matured B-cells in circulation as well as decreased in all immunoglobulin (Ig) classes. We have reported one case who is a 48-month-old boy and suffering from recurrent pneumonia, skin abscess, otitis media, and swelling of the left knee joint. His serum Ig levels showed an IgM level of <0.169 g/l, IgG 2.43 g/l, and IgA <0.256 g/l. Immunophenotyping of lymphocyte subsets showed an absence of B-cells. Intracellular BTK protein expression in monocytes by flow cytometry showed a markedly reduced mean fluorescence index which confirmed the diagnosis of XLA. Antibiotics with intravenous Ig therapy were started. |
| first_indexed | 2024-04-24T19:43:38Z |
| format | Article |
| id | doaj.art-fa1f9391e41a4ec397a5d0406bfb7dbf |
| institution | Directory Open Access Journal |
| issn | 0972-6691 |
| language | English |
| last_indexed | 2024-04-24T19:43:38Z |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Allergy Asthma and Immunology |
| spelling | doaj.art-fa1f9391e41a4ec397a5d0406bfb7dbf2024-03-25T10:27:46ZengWolters Kluwer Medknow PublicationsIndian Journal of Allergy Asthma and Immunology0972-66912023-01-01372565910.4103/ijaai.ijaai_37_23Diagnosis of a case of X-linked agammaglobulinemia with juvenile idiopathic arthritis and recurrent pneumonia in BangladeshAvizit SarkerMohammad Imnul IslamIsmet NigarMd Eunus AliChandan Kumar RoyX-linked agammaglobulinemia (XLA) is a rare hereditary primary immunodeficiency disorder caused by mutation in the Bruton's tyrosine kinase (BTK) gene located in the Xq22 region of the X chromosome. It is characterized by absolute or marked deficiency of matured B-cells in circulation as well as decreased in all immunoglobulin (Ig) classes. We have reported one case who is a 48-month-old boy and suffering from recurrent pneumonia, skin abscess, otitis media, and swelling of the left knee joint. His serum Ig levels showed an IgM level of <0.169 g/l, IgG 2.43 g/l, and IgA <0.256 g/l. Immunophenotyping of lymphocyte subsets showed an absence of B-cells. Intracellular BTK protein expression in monocytes by flow cytometry showed a markedly reduced mean fluorescence index which confirmed the diagnosis of XLA. Antibiotics with intravenous Ig therapy were started.http://www.ijaai.in/article.asp?issn=0972-6691;year=2023;volume=37;issue=2;spage=56;epage=59;aulast=Sarkerbangladeshbruton's tyrosine kinaseflow cytometryx-linked agammaglobulinemia |
| spellingShingle | Avizit Sarker Mohammad Imnul Islam Ismet Nigar Md Eunus Ali Chandan Kumar Roy Diagnosis of a case of X-linked agammaglobulinemia with juvenile idiopathic arthritis and recurrent pneumonia in Bangladesh Indian Journal of Allergy Asthma and Immunology bangladesh bruton's tyrosine kinase flow cytometry x-linked agammaglobulinemia |
| title | Diagnosis of a case of X-linked agammaglobulinemia with juvenile idiopathic arthritis and recurrent pneumonia in Bangladesh |
| title_full | Diagnosis of a case of X-linked agammaglobulinemia with juvenile idiopathic arthritis and recurrent pneumonia in Bangladesh |
| title_fullStr | Diagnosis of a case of X-linked agammaglobulinemia with juvenile idiopathic arthritis and recurrent pneumonia in Bangladesh |
| title_full_unstemmed | Diagnosis of a case of X-linked agammaglobulinemia with juvenile idiopathic arthritis and recurrent pneumonia in Bangladesh |
| title_short | Diagnosis of a case of X-linked agammaglobulinemia with juvenile idiopathic arthritis and recurrent pneumonia in Bangladesh |
| title_sort | diagnosis of a case of x linked agammaglobulinemia with juvenile idiopathic arthritis and recurrent pneumonia in bangladesh |
| topic | bangladesh bruton's tyrosine kinase flow cytometry x-linked agammaglobulinemia |
| url | http://www.ijaai.in/article.asp?issn=0972-6691;year=2023;volume=37;issue=2;spage=56;epage=59;aulast=Sarker |
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