Clinical and immunological analysis of patients with X-linked agammaglobulinemia – single center experience

Pac, Małgorzata; Mikołuć, Bożena; Pietrucha, Barbara; Wolska-Kuśnierz, Beata; Piątosa, Barbara; Michałkiewicz, Jacek; Gregorek, Hanna; Bernatowska, Ewa

doi:10.5114/ceji.2013.37748

Cited by 2 publications

(3 citation statements)

References 14 publications

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“…No major differences were seen in the frequency of lower respiratory tract infections (LRTI), accounting for approximately 80-86% of affected individuals. Similar data were reported in earlier studies [10,16,17,20]. Tavakol et al [21] indicate high frequency (54.5%) of ENT infections in all PAD patients, especially in CVID compared to other PAD, which is compatible with our observation.…”

Section: Discussionsupporting

confidence: 94%

“…XLA presents one of the most frequent monogenic immune deficiencies with almost complete arrest of B-cell differentiation in bone marrow at pre-B-cell stage due to a defect in the Bruton's tyrosine kinase (Btk) gene. Following this defect in XLA patients a marked reduction of all classes of immunoglobulin and specific antibody response to immunisation is observed [9][10][11].…”

Section: Introductionmentioning

confidence: 99%

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Clinical analysis of X-linked agammaglobulinemia and common variable immunodeficiency in children – what pediatrician should know?

Pac¹,

Bernatowska²,

Jackowska³

et al. 2019

polp

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Aim of the study: To present relevant clinical features of X-linked agammaglobulinaemia (XLA) and common variable immunodeficiency (CVID) in children, helpful in the everyday practice of paediatricians and general practitioners. To analyse the similarities and differences between XLA and CVID. Material and methods: The retrospective analysis of the onset of symptoms, age of clinical diagnosis, basic immunological parameters, and infectious and non-infectious complications in 11 XLA and 21 CVID patients from a single centre was carried out. Results: XLA boys presented the first symptoms in the second half of the first year of life. They had extremely low B-cell numbers (mean: 15 cells/µl, 0.45%), and immunoglobulin levels (median IgG: 0.38 g/l). Patients with CVID presented later occurrence of symptoms (median: two years), higher numbers of B cells (mean: 304 cells/µl, 12.5%), and higher immunoglobulin G levels (median: 2.92 g/l), but lower T CD4 cells. IgM and IgA levels were diminished in both groups, with lower values in XLA patients. Relevant differences (p < 0.05) in B-cell numbers and IgG levels between XLA and CVID groups were observed. Severe clinical complications such as chronic lung disease, bronchiectasis, autoimmune disorders, splenomegaly, and lymphadenopathy were more often observed in CVID. Conclusions: An earlier onset of symptoms, extremely low B-cell numbers and immunoglobulin levels, and normal numbers of T cells point to XLA. Hypogammaglobulinaemia accompanied by non-infectious complications and diminished CD4 T cells are more suggestive of CVID. Greater awareness between paediatricians and general physicians should lead to a proper diagnosis, earlier treatment, avoidance of severe life-threatening complications, and better quality of life.

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Section: Discussionsupporting

confidence: 94%

Section: Introductionmentioning

confidence: 99%

Clinical analysis of X-linked agammaglobulinemia and common variable immunodeficiency in children – what pediatrician should know?

Pac¹,

Bernatowska²,

Jackowska³

et al. 2019

polp

Self Cite

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“…Consistent with the results of previous studies, respiratory tract infections are the first and most commonly involved organ system in agammaglobulinemic patients. 7,[34][35][36][37][38][39][40][41][42] Among the respiratory complications, pneumonia was the most common presentation.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of respiratory complications in patients with X‐linked and autosomal recessive agammaglobulinemia

Fekrvand

Yazdani

Olbrich

et al. 2020

Pediatric Allergy Immunology

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Background: Congenital agammaglobulinemia is the first primary immunodeficiency disorder characterized by a defect in B lymphocyte development and subsequently decreased immunoglobulin levels. These patients are prone to suffer from recurrent infections mostly involving the respiratory tract. In this study, we aimed to describe in detail respiratory tract complications as the most prominent clinical feature among agammaglobulinemic patients. Methods:A total number of 115 patients were included. Demographic, clinical, and genetic data were collected from the patients' medical records. Among the available patients, pulmonary function tests (PFTs) and/or high-resolution computed tomography (HRCT) were performed.Results: Respiratory tract complications (85.2%) especially pneumonia (62.6%) were the most prominent clinical features in our cohort. Among patients with abnormal PFT results (N = 19), a mixed respiratory pattern was observed in 36.8%. HRCT was carried out in 29 patients; Bhalla scoring-based evaluation of these patients indicated excellent (44.8%), followed by good (34.5%) and mild (20.7%) results. Bronchiectasis was found in 13 patients undergoing HRCT (44.8%). We found significant inverse correlations between the Bhalla score and incidence rate of pneumonia, as well as the presence of bronchiectasis. Patients with abnormal PFT results had statistically significant higher bronchiectasis frequency and lower Bhalla scores compared to those with normal results. Forty-one patients were deceased, and here, respiratory failure was the most common cause of death (45.5%). Conclusion: High prevalence of respiratory tract infections among agammaglobulinemic patients and subsequent progression to permanent lung damage highlights the importance of implementing respiratory evaluation as part of routine follow-up program of agammaglobulinemic patients. Physicians should be aware of this and regularly monitor the respiratory function of these patients to allow for timely diagnosis and treatment initiation aiming to improve patients' prognosis and quality of life. K E Y W O R D S agammaglobulinemia, Bhalla scoring, high-resolution computed tomography, primary immunodeficiency, pulmonary function test, respiratory tract complications Key Message Respiratory complications are the most common complications among agammaglobulinemic patients and constitute a significant cause of morbidity and mortality among them. In the present study, we studied respiratory tract complications among agammaglobulinemic patients by means of pulmonary function tests (PFT) and high-resolution computed tomography (HRCT). Furthermore, for the first time, we compared the respiratory manifestations of X-linked (XLA) and autosomal recessive agammaglobulinemia (ARA) patients by PFT and HRCT findings. Altogether, regular monitoring of the respiratory function by PFT as the method of choice and HRCT in those with delayed diagnosis could improve the patients' prognosis and quality of life by timely diagnosis and treatment of the underlying respiratory pro...

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Clinical and immunological analysis of patients with X-linked agammaglobulinemia – single center experience

Cited by 2 publications

References 14 publications

Clinical analysis of X-linked agammaglobulinemia and common variable immunodeficiency in children – what pediatrician should know?

Clinical analysis of X-linked agammaglobulinemia and common variable immunodeficiency in children – what pediatrician should know?

Evaluation of respiratory complications in patients with X‐linked and autosomal recessive agammaglobulinemia

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