Cargando…

Delayed diagnosis of X-linked agammaglobulinaemia in a boy with recurrent meningitis

BACKGROUND: X-linked agammaglobulinaemia (XLA) is a rare inherited primary immunodeficiency disease characterized by the B cell developmental defect, caused by mutations in the gene coding for Bruton’s tyrosine kinase (BTK), which may cause serious recurrent infections. The diagnosis of XLA is somet...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Ya-Ni, Gao, Yuan-Yuan, Yang, Si-Da, Cao, Bin-Bin, Zheng, Ke-Lu, Wei, Ping, Chen, Lian-Feng, Chen, Wen-Xiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6907138/
https://www.ncbi.nlm.nih.gov/pubmed/31830942
http://dx.doi.org/10.1186/s12883-019-1536-7
_version_ 1783478489695911936
author Zhang, Ya-Ni
Gao, Yuan-Yuan
Yang, Si-Da
Cao, Bin-Bin
Zheng, Ke-Lu
Wei, Ping
Chen, Lian-Feng
Chen, Wen-Xiong
author_facet Zhang, Ya-Ni
Gao, Yuan-Yuan
Yang, Si-Da
Cao, Bin-Bin
Zheng, Ke-Lu
Wei, Ping
Chen, Lian-Feng
Chen, Wen-Xiong
author_sort Zhang, Ya-Ni
collection PubMed
description BACKGROUND: X-linked agammaglobulinaemia (XLA) is a rare inherited primary immunodeficiency disease characterized by the B cell developmental defect, caused by mutations in the gene coding for Bruton’s tyrosine kinase (BTK), which may cause serious recurrent infections. The diagnosis of XLA is sometimes challenging because a few number of patients have higher levels of serum immunoglobulins than expected. In this study, we reported an atypical case with recurrent meningitis, delayed diagnosis with XLA by genetic analysis at the second episode of meningitis at the age of 8 years. CASE REPORT: An 8-year-old Chinese boy presented with fever, dizziness and recurrent vomiting for 3 days. The cerebrospinal fluid (CSF) and magnetic resonance imaging (MRI) results were suggestive of bacterial meningoencephalitis, despite the negative gram staining and cultures of the CSF. The patient was treated with broad-spectrum antibiotics and responded well to the treatment. He had history of another episode of acute pneumococci meningitis 4 years before. The respective level of Immunoglobulin G (IgG), Immunoglobulin A (IgA) and Immunoglobulin M (IgM) was 4.85 g/L, 0.93 g/L and 0.1 g/L at 1(st) episode, whereas 1.9 g/L, 0.27 g/L and 0 g/L at second episode. The B lymphocytes were 0.21 and 0.06% of peripheral blood lymphocytes at first and second episode respectively. Sequencing of the BTK coding regions showed that the patient had a point mutation in the intron 14, hemizyous c.1349 + 5G > A, while his mother had a heterozygous mutation. It was a splice site mutation predicted to lead to exon skipping and cause a truncated BTK protein. CONCLUSION: Immunity function should be routinely checked in patients with severe intracranial bacterial infection. Absence of B cells even with normal level of serum immunoglobulin suggests the possibility of XLA, although this happens only in rare instances. Mutational analysis of BTK gene is crucial for accurate diagnosis to atypical patients with XLA.
format Online
Article
Text
id pubmed-6907138
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-69071382019-12-20 Delayed diagnosis of X-linked agammaglobulinaemia in a boy with recurrent meningitis Zhang, Ya-Ni Gao, Yuan-Yuan Yang, Si-Da Cao, Bin-Bin Zheng, Ke-Lu Wei, Ping Chen, Lian-Feng Chen, Wen-Xiong BMC Neurol Case Report BACKGROUND: X-linked agammaglobulinaemia (XLA) is a rare inherited primary immunodeficiency disease characterized by the B cell developmental defect, caused by mutations in the gene coding for Bruton’s tyrosine kinase (BTK), which may cause serious recurrent infections. The diagnosis of XLA is sometimes challenging because a few number of patients have higher levels of serum immunoglobulins than expected. In this study, we reported an atypical case with recurrent meningitis, delayed diagnosis with XLA by genetic analysis at the second episode of meningitis at the age of 8 years. CASE REPORT: An 8-year-old Chinese boy presented with fever, dizziness and recurrent vomiting for 3 days. The cerebrospinal fluid (CSF) and magnetic resonance imaging (MRI) results were suggestive of bacterial meningoencephalitis, despite the negative gram staining and cultures of the CSF. The patient was treated with broad-spectrum antibiotics and responded well to the treatment. He had history of another episode of acute pneumococci meningitis 4 years before. The respective level of Immunoglobulin G (IgG), Immunoglobulin A (IgA) and Immunoglobulin M (IgM) was 4.85 g/L, 0.93 g/L and 0.1 g/L at 1(st) episode, whereas 1.9 g/L, 0.27 g/L and 0 g/L at second episode. The B lymphocytes were 0.21 and 0.06% of peripheral blood lymphocytes at first and second episode respectively. Sequencing of the BTK coding regions showed that the patient had a point mutation in the intron 14, hemizyous c.1349 + 5G > A, while his mother had a heterozygous mutation. It was a splice site mutation predicted to lead to exon skipping and cause a truncated BTK protein. CONCLUSION: Immunity function should be routinely checked in patients with severe intracranial bacterial infection. Absence of B cells even with normal level of serum immunoglobulin suggests the possibility of XLA, although this happens only in rare instances. Mutational analysis of BTK gene is crucial for accurate diagnosis to atypical patients with XLA. BioMed Central 2019-12-12 /pmc/articles/PMC6907138/ /pubmed/31830942 http://dx.doi.org/10.1186/s12883-019-1536-7 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Zhang, Ya-Ni
Gao, Yuan-Yuan
Yang, Si-Da
Cao, Bin-Bin
Zheng, Ke-Lu
Wei, Ping
Chen, Lian-Feng
Chen, Wen-Xiong
Delayed diagnosis of X-linked agammaglobulinaemia in a boy with recurrent meningitis
title Delayed diagnosis of X-linked agammaglobulinaemia in a boy with recurrent meningitis
title_full Delayed diagnosis of X-linked agammaglobulinaemia in a boy with recurrent meningitis
title_fullStr Delayed diagnosis of X-linked agammaglobulinaemia in a boy with recurrent meningitis
title_full_unstemmed Delayed diagnosis of X-linked agammaglobulinaemia in a boy with recurrent meningitis
title_short Delayed diagnosis of X-linked agammaglobulinaemia in a boy with recurrent meningitis
title_sort delayed diagnosis of x-linked agammaglobulinaemia in a boy with recurrent meningitis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6907138/
https://www.ncbi.nlm.nih.gov/pubmed/31830942
http://dx.doi.org/10.1186/s12883-019-1536-7
work_keys_str_mv AT zhangyani delayeddiagnosisofxlinkedagammaglobulinaemiainaboywithrecurrentmeningitis
AT gaoyuanyuan delayeddiagnosisofxlinkedagammaglobulinaemiainaboywithrecurrentmeningitis
AT yangsida delayeddiagnosisofxlinkedagammaglobulinaemiainaboywithrecurrentmeningitis
AT caobinbin delayeddiagnosisofxlinkedagammaglobulinaemiainaboywithrecurrentmeningitis
AT zhengkelu delayeddiagnosisofxlinkedagammaglobulinaemiainaboywithrecurrentmeningitis
AT weiping delayeddiagnosisofxlinkedagammaglobulinaemiainaboywithrecurrentmeningitis
AT chenlianfeng delayeddiagnosisofxlinkedagammaglobulinaemiainaboywithrecurrentmeningitis
AT chenwenxiong delayeddiagnosisofxlinkedagammaglobulinaemiainaboywithrecurrentmeningitis