Case Report : X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency

Keyphrases

• Common Variable Immunodeficiency 100%
• X-linked 100%
• SASH3 100%
• CD4+ 40%
• Viral Infection 40%
• Genetic Testing 40%
• T Cell Depletion 40%
• Combined Immunodeficiency 40%
• B Cells 20%
• CD8+ 20%
• T Cells 20%
• Nave 20%
• T Cell Proliferation 20%
• CD8+ T Cells 20%
• Adult Patients 20%
• Number of Patients 20%
• Mild Phenotype 20%
• Clinical Spectrum 20%
• Adaptor Protein 20%
• Immunological Characteristics 20%
• Haemophilus Influenzae 20%
• Hemizygous 20%
• Influenza B 20%
• Influenza-like Illness 20%
• T Cell Activation 20%
• Thymocytes 20%
• Lymphopenia 20%
• Sinopulmonary Infections 20%
• Gain-of-function mutation 20%
• Streptococcus Pneumoniae 20%
• Immune Dysregulation 20%
• Targeted Gene Panel 20%
• Memory B Cells 20%
• Upper Respiratory Tract Infection 20%
• Cutaneous Infection 20%
• Polysaccharide Vaccine 20%
• Mucosal Infection 20%
• Conjugate Vaccine 20%
• Suboptimal Response 20%
• Varicella-zoster Virus Infection 20%
• Immune Thrombocytopenia 20%
• Normal Response 20%
• Type A Influenza 20%
• Inborn Errors of Immunity 20%
• TCR Signaling 20%
• Bilateral Pneumonia 20%
• SARS-CoV-2 RNA 20%
• RNA Vaccine 20%
• Fault Test 20%

Immunology and Microbiology

• Common Variable Immunodeficiency 100%
• Viral Disease 100%
• T Cell 100%
• Genetic Screening 66%
• T Cell Receptor 33%
• Immunoglobulin M 33%
• T Cell Proliferation 33%
• Influenza 33%
• B Cell 33%
• T Cell Activation 33%
• Memory B Cell 33%
• Next Generation Sequencing 33%
• Immune Dysregulation 33%
• Thymocyte 33%
• Severe Acute Respiratory Syndrome Coronavirus 2 33%
• Cytotoxic T-Cell 33%
• T-Helper Cell 33%
• Pneumococcus 33%
• X-Linked Severe Combined Immunodeficiency 33%
• Combined Immunodeficiencies 33%
• Primary Immunodeficiency 33%
• CD4 33%
• CD8 33%
• Lymphocytopenia 33%
• Varicella Zoster Virus 33%
• Haemophilus Influenzae Type B 33%
• Polysaccharide Vaccine 33%
• RNA Vaccine 33%
• Conjugate Vaccine 33%