ArticleBMC pediatrics2013
Atypical X-linked agammaglobulinaemia caused by a novel BTK mutation in a selective immunoglobulin M deficiency patient.
Article in BMC pediatrics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 23 citations in OpenAlex.
- Whole Genome Sequencing as First Diagnostic Approach for Inborn Errors of Immunity in Adults: Diagnostic Yield and Clinical Correlations.International journal of molecular sciences · 2026Article
- RNA Sequencing Addresses a 5' UTR Variant Leading to X-Linked Agammaglobulinemia and Broader Immune Dysregulation.Journal of clinical immunology · 2025Article
- Revisiting X-linked agammaglobulinemia.Journal of human immunity · 2025Review
- Mycoplasma pneumonia in a patient with X-linked agammaglobulinemia.BMC infectious diseases · 2024Article
- Discordant Phenotypes of Nephritis in Patients with X-linked Agammaglobulinemia.Journal of clinical immunology · 2024Article
- IgA nephropathy in a child with X-linked agammaglobulinemia: a case report.BMC pediatrics · 2024Article
- Infection risk in patients with autoimmune cytopenias and immune dysregulation treated with mycophenolate mofetil and sirolimus.Frontiers in immunology · 2024Article
- Case report of renal manifestations in X-linked agammaglobulinemia.Frontiers in immunology · 2024Article
- Resisting the Resistance: Navigating BTK Mutations in Chronic Lymphocytic Leukemia (CLL).Genes · 2023Review
- Selective IgM Deficiency: Evidence, Controversies, and Gaps.Diagnostics (Basel, Switzerland) · 2023Review
- Research-based flow cytometry assays for pathogenic assessment in the human B-cell biology of gene variants revealed in the diagnosis of inborn errors of immunity: a Bruton's tyrosine kinase case-study.Frontiers in immunology · 2023Article
- Cytomegalovirus Pneumonia in a Patient with X-Linked Agammaglobulinemia: A Case Report.Medicina (Kaunas, Lithuania) · 2022Article
- Whole genome sequencing identifies novel structural variant in a large Indian family affected with X-linked agammaglobulinemia.PloS one · 2021Article
- Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling.Frontiers in immunology · 2020Article
- Distinct Clinical Features and Novel Mutations in Taiwanese Patients With X-Linked Agammaglobulinemia.Frontiers in immunology · 2020Article
- A NovelFrontiers in immunology · 2019Article
- Hypomorphic Mutations in the BCR Signalosome Lead to Selective Immunoglobulin M Deficiency and Impaired B-cell Homeostasis.Frontiers in immunology · 2018Article
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundX-linked agammaglobulinaemia (XLA) is the most common inherited humoural immunodeficiency disorder. Mutations in the gene coding for Bruton's tyrosine kinase (BTK) have been identified as the cause of XLA. Most affected patients exhibit a marked reduction of serum immunoglobulins, mature B cells, and an increased susceptibility to recurrent bacterial infections. However, the diagnosis of XLA can be a challenge in certain patients who have near-normal levels of serum immunoglobulin. Furthermore, reports on XLA with renal involvement are scant. CASE PRESENTATION: We report an atypical XLA patient who presented with selective immunoglobulin M (IgM) immunodeficiency and nephropathy. He was diagnosed with selective IgM immunodeficiency, based on his normal serum immunoglobulin G (IgG) and immunoglobulin A (IgA) levels but undetectable serum IgM level. Intravenous immunoglobulin was initiated due to increased infections and persistent proteinuria but no improvement in proteinuria was found. A lupus-like nephritis was detected in his kidney biopsy and the proteinuria subsided after receiving a mycophenolate mofetil regimen. Although he had a history of recurrent bacterial infections since childhood, XLA was not diagnosed until B-lymphocyte surface antigen studies and a genetic analysis were conducted.
conclusionsWe suggest that B-lymphocyte surface antigen studies and a BTK mutation analysis should be performed in familial patients with selective IgM deficiency to rule out atypical XLA.
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