X-linked agammaglobulinemia caused by new mutation in BTK gene: A case report

Havlíčeková, Zuzana; Jeseňák, Miloš; Freiberger, Tomáš; Bánovčin, Peter

doi:10.5507/bp.2013.011

Cited by 2 publications

(1 citation statement)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The pneumonias in these patients lead to the bronchiectasis and pneumatocoele formation, which serve as locus minoris resistentiae for other infections, especially fungi. Other infectious pathologies, e.g., lung abscess and empyema have been also described (17, 24). …”

Section: Respiratory Manifestations Of Primary Immunodeficienciesmentioning

confidence: 99%

Pulmonary Manifestations of Primary Immunodeficiency Disorders in Children

et al. 2014

Self Cite

View full text Add to dashboard Cite

Primary immunodeficiencies (PIDs) are inherited disorders in which one or several components of immune system are decreased, missing, or of non-appropriate function. These diseases affect the development, function, or morphology of the immune system. The group of PID comprises more than 200 different disorders and syndromes and the number of newly recognized and revealed deficiencies is still increasing. Their clinical presentation and complications depend on the type of defects and there is a great variability in the relationship between genotypes and phenotypes. A variation of clinical presentation across various age categories is also presented and children could widely differ from adult patients with PID. Respiratory symptoms and complications present a significant cause of morbidity and also mortality among patients suffering from different forms of PIDs and they are observed both in children and adults. They can affect primarily either upper airways (e.g., sinusitis and otitis media) or lower respiratory tract [e.g., pneumonia, bronchitis, bronchiectasis, and interstitial lung diseases (ILDs)]. The complications from lower respiratory tract are usually considered to be more important and also more specific for PIDs and they determinate patients’ prognosis. The spectrum of the causal pathogens usually demonstrates typical pattern characteristic for each PID category. The respiratory signs of PIDs can be divided into infectious (upper and lower respiratory tract infections and complications) and non-infectious (ILDs, bronchial abnormalities – especially bronchiectasis, malignancies, and benign lymphoproliferation). Early diagnosis and appropriate therapy can prevent or at least slow down the development and course of respiratory complications of PIDs.

show abstract

Section: Respiratory Manifestations Of Primary Immunodeficienciesmentioning

confidence: 99%

Pulmonary Manifestations of Primary Immunodeficiency Disorders in Children

et al. 2014

Self Cite

View full text Add to dashboard Cite

show abstract

Atypical Manifestation of X-linked Agammaglobulinemia – the Importance of Genetic Testing

Markocsy,

Kapustová,

Čereš

et al. 2024

Acta Med. (Hradec Kralove, Czech Repub.)

View full text Add to dashboard Cite

X-linked agammaglobulinemia (XLA) was one of the first inborn errors of immunity to be described. It is caused by pathogenic variants in the gene for Bruton tyrosine kinase (BTK), which has important functions in B cell development and maturation. Recurrent bacterial infections in the first two years of life and hypogammaglobulinemia with absent B cells in male patients are the most common symptoms. A four-month-old male patient underwent surgical removal of urachus persistens complicated with recurrent scar abscesses. Hypogammaglobulinemia (IgG, IgA, and IgM), low phagocytic activity, mild neutropenia, and a normal percentage of B cells were observed in the patient’s immune laboratory profile. Over time, he suffered recurrent respiratory infections (otitis media and rhinosinusitis) and developed B cell depletion, but interestingly, this was with a normalisation of IgG and IgA levels along with undetectable IgM. Molecular-genetic testing confirmed the presence of the pathogenic variant c.1843C>T in the BTK gene, which is associated with a milder phenotype of XLA. Molecular-genetic testing uncovers the variability of clinical and laboratory features of apparently well-known inherited disorders. Patients with mild “leaky” XLA may have normal levels of non-functional or oligoclonal immunoglobulins.

show abstract

X-linked agammaglobulinemia caused by new mutation in BTK gene: A case report

Cited by 2 publications

References 14 publications

Pulmonary Manifestations of Primary Immunodeficiency Disorders in Children

Pulmonary Manifestations of Primary Immunodeficiency Disorders in Children

Atypical Manifestation of X-linked Agammaglobulinemia – the Importance of Genetic Testing

Contact Info

Product

Resources

About