Gene symbol: btk. Disease: Bruton agammaglobulinemia

Degree of major histocompatibility complex mismatching may be detrimental to B cell functional reconstitution after hematopoietic stem cell transplantation in infants with severe combined immunodeficiency.

Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi·2026

Multi-omics reveal phosphatidic acid phosphatases modify Niemann-Pick type C disease severity.

iScience·2026

GPIHBP1 Autoantibody-Related Hypertriglyceridemia in Children: A Report of Two Cases and a Review of Pediatric Cases From the Literature.

Molecular genetics & genomic medicine·2026

Optical Coherence Tomography Reflectivity as a Diagnostic Tool and Neurological Biomarker in Sialidosis Type I.

Journal of inherited metabolic disease·2026

Assessment of TREC-Based NBS SCID Reporting Practices for Harmonization of Results and Interpretation: A Global Survey.

The journal of allergy and clinical immunology. In practice·2026

Pharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using an MR-Compatible Cannula: 48 Weeks of Follow-Up.

Journal of inherited metabolic disease·2026

Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer.

Human genetics·2026

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.

Human genetics·2026

Genomic characterization of historical Jinlingnan individuals: insights into genetic continuity and trans-Eurasian signals in eastern China.

Human genetics·2026

Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia.

Human genetics·2026

CRISPR/Cas9-based repair of a heterozygous HNF1A mutation in patient-derived hiPSCs.

Human genetics·2026

TTC14 dysfunction contributing to microcephaly and lissencephaly spectrum features through protein mislocalization and impaired RNA processing.

Human genetics·2026

Cytokine-associated ROS and Ca2+ dysregulation in severe inflammatory cardiomyopathy.

Cardiovascular research·2026

Acute EBV-Associated Systemic Inflammatory Syndrome Presenting as PUO With FDG-Avid Generalized Lymphadenopathy, Autoimmune Serological Positivity and Myopericarditis Mimicking Lymphoma and Connective Tissue Disease: A Diagnostic Challenge.

Cureus·2026

Gradually Enlarging Nodular Pulmonary Amyloidosis Associated With Sjögren's Syndrome.

Respirology case reports·2026

A Case of Thyroid Dermopathy.

Cureus·2026

Immune dysregulation in osteoarthritis: Mechanisms, biomarkers, and therapeutic opportunities.

Journal of translational autoimmunity·2026

NSAID-Induced Acute Interstitial Nephritis Concurrent With IgA Vasculitis: A Case-Based Systematic Review.

Kidney medicine·2026

Related Experiment Videos

Gene symbol: btk. Disease: Bruton agammaglobulinemia

Related Concept Videos

Degree of major histocompatibility complex mismatching may be detrimental to B cell functional reconstitution after hematopoietic stem cell transplantation in infants with severe combined immunodeficiency.

Multi-omics reveal phosphatidic acid phosphatases modify Niemann-Pick type C disease severity.

GPIHBP1 Autoantibody-Related Hypertriglyceridemia in Children: A Report of Two Cases and a Review of Pediatric Cases From the Literature.

Optical Coherence Tomography Reflectivity as a Diagnostic Tool and Neurological Biomarker in Sialidosis Type I.

Assessment of TREC-Based NBS SCID Reporting Practices for Harmonization of Results and Interpretation: A Global Survey.

Pharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using an MR-Compatible Cannula: 48 Weeks of Follow-Up.

Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer.

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.

Genomic characterization of historical Jinlingnan individuals: insights into genetic continuity and trans-Eurasian signals in eastern China.

Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia.

CRISPR/Cas9-based repair of a heterozygous HNF1A mutation in patient-derived hiPSCs.

TTC14 dysfunction contributing to microcephaly and lissencephaly spectrum features through protein mislocalization and impaired RNA processing.

Cytokine-associated ROS and Ca2+ dysregulation in severe inflammatory cardiomyopathy.

Acute EBV-Associated Systemic Inflammatory Syndrome Presenting as PUO With FDG-Avid Generalized Lymphadenopathy, Autoimmune Serological Positivity and Myopericarditis Mimicking Lymphoma and Connective Tissue Disease: A Diagnostic Challenge.

Gradually Enlarging Nodular Pulmonary Amyloidosis Associated With Sjögren's Syndrome.

A Case of Thyroid Dermopathy.

Immune dysregulation in osteoarthritis: Mechanisms, biomarkers, and therapeutic opportunities.

NSAID-Induced Acute Interstitial Nephritis Concurrent With IgA Vasculitis: A Case-Based Systematic Review.

Related Experiment Videos

Gene symbol: btk. Disease: Bruton agammaglobulinemia

Related Concept Videos

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