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IgA nephropathy in a child with X-linked agammaglobulinemia: a case report
BackgroundX-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease caused by mutations in the Bruton tyrosine kinase (BTK) gene....
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Clinical and genetic findings in two siblings with X-Linked agammaglobulinemia and bronchiolitis obliterans: a case report
BackgroundX-linked agammaglobulinemia (XLA) is an Inborn Errors of Immunity (IEI) characterized by pan-hypogammaglobulinemia and low numbers of B...
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Agammaglobulinemia: from X-linked to Autosomal Forms of Disease
Interruptions or alterations in the B cell development pathway can lead to primary B cell immunodeficiency with resultant absence or diminished...
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Retrospective study of 98 patients with X-linked agammaglobulinemia complicated with arthritis
ObjectiveWe preformed this retrospective study of clinical manifestation, imaging feature, and mutations to describe joint involvement in X-linked...
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X-Linked Agammaglobulinemia With Chronic Meningoencephalitis: A Diagnostic Challenge
X-linked agammaglobulinemia (XLA) is a primary disorder of humoral immunity characterized by Bruton tyrosine kinase gene mutations resulting in a...
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Ecthyma gangrenosum due to Pseudomonas aeruginosa sepsis as initial manifestation of X-linked agammaglobulinemia: a case report
BackgroundX-linked agammaglobulinemia (XLA, OMIM#300,300), caused by mutations in the Bruton tyrosine kinase ( BTK ) gene, is a rare monogenic...
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Achromobacter xylosoxidans Sepsis Unveiling X-linked Agammaglobulinemia Masquerading as Systemic-onset Juvenile Idiopathic Arthritis
BackgroundX-linked agammaglobulinemia, a primary immunodeficiency, can present with musculoskeletal manifestations.
Case characteristics ... -
Rheumatologic diseases in patients with inborn errors of immunity in the USIDNET registry
There is a gap in clinical knowledge regarding associations between specific inborn errors of immunity (IEIs) and rheumatologic diseases. This study...
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Delayed diagnosis of X-linked agammaglobulinaemia in a boy with recurrent meningitis
BackgroundX-linked agammaglobulinaemia (XLA) is a rare inherited primary immunodeficiency disease characterized by the B cell developmental defect,...
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From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature
BackgroundSevere combined immunodeficiencies (SCIDs) are hereditary disorders characterized by impaired T and B cell function, resulting in...
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Specific T-cell responses for guiding treatment with convalescent plasma in severe COVID-19 and humoral immunodeficiency: a case report
BackgroundThe immune response to SARS-CoV-2 virus, the cause of COVID-19, is complex. Antibody mediated responses are important for viral clearance...
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B Cell Disorders in Children—Part I
Purpose of ReviewThe advent of enhanced genetic testing has allowed for the discovery of gene defects underlying two broad categories of antibody...
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Direct and Indirect Costs of Immunoglobulin Replacement Therapy in Patients with Common Variable Immunodeficiency (CVID) and X-Linked Agammaglobulinemia (XLA) in Italy
BackgroundIn Italy, there is scarce evidence on the epidemiological and economic burden induced by primary antibody deficiencies.
Objective ...
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Severity of SARS-CoV-2 infection in children with inborn errors of immunity (primary immunodeficiencies): a systematic review
BackgroundInborn errors of immunity (IEIs) are considered significant challenges for children with IEIs, their families, and their medical providers....
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Workup and Management of Immunodeficiency in Chronic Rhinosinusitis
Chronic rhinosinusitis (CRS), especially if severe, recurrent, or refractory to standard medical management, should prompt consideration of an...
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Chronic Rhinosinusitis in Pediatric Immunodeficiency
Purpose of ReviewChronic rhinosinusitis and other sinopulmonary infections can be a hallmark of impaired immunity in children. Rhinosinusitis in the...
