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Adult DNA-Binding Proteins Homeodomain Proteins Humans Immunologic Deficiency Syndromes Nuclear Proteins prevalence

Animals Bacterial Proteins Female Gene Deletion Gene Expression Regulation Bacterial Genes Bacterial Immunologic Deficiency Syndromes Male Mice Mice Inbred C57BL Proteome Receptors Immunologic Salmonella Infections Animal Salmonella typhimurium Transcriptome

Adolescent Hand Dermatoses Human Papillomavirus Recombinant Vaccine Quadrivalent Types 6 11 16 18 Humans Immunologic Deficiency Syndromes Male Papillomavirus Infections Treatment Outcome Warts

PURPOSE: The purpose of this phase 3 study was to evaluate the efficacy, pharmacokinetics (PK), and safety of Immune Globulin Subcutaneous (Human), 20% Caprylate/Chromatography Purified (IGSC 20%) in patients with primary...

20% immunoglobulin GTI1503 primary immunodeficiency immunoglobulin replacement therapy subcutaneous Adolescent Adult Child Humans Immunoglobulin G Immunoglobulins Intravenous Immunologic Deficiency Syndromes Immunologic Factors Infusions Subcutaneous

CD4 lymphopenia Combined immunodeficiency MST1 STK4 Chemotaxis lymphocyte adhesion Cell Adhesion Chemotaxis Leukocyte Child Preschool Female Genes Recessive Humans Immunologic Deficiency Syndromes Immunophenotyping Intercellular Adhesion Molecule-1 Intracellular Signaling Peptides and Proteins Lymphocytes Pedigree Phenotype Protein Serine-Threonine Kinases Siblings

Activated PI3 kinase delta syndrome (APDS) is a primary immunodeficiency caused by dominant mutations that increase activity of phosphoinositide-3-kinase δ (PI3Kδ). APDS can be caused by mutations in the PIK3CD gene that encodes...

activated PI3 kinase delta syndrome inhibitor Mutation phosphoinositide-3-kinase δ primary immunodeficiency Animals Class I Phosphatidylinositol 3-Kinases Class Ia Phosphatidylinositol 3-Kinase Clinical Trials as Topic Humans Immunologic Deficiency Syndromes Molecular Targeted Therapy Mutation Phenotype Phosphatidylinositol 3-Kinases Phosphoinositide-3 Kinase Inhibitors Primary Immunodeficiency Diseases

BACKGROUND: Roifman syndrome is a rare inherited disorder characterized by spondyloepiphyseal dysplasia, growth retardation, cognitive delay, hypogammaglobulinemia, and, in some patients, thrombocytopenia. Compound heterozygous...

B cells RNA processing Roifman syndrome platelets Adolescent B-Lymphocytes Blood Platelets Cardiomyopathies Cell Differentiation Cell Lineage Cell Proliferation Cells Cultured Child Child Preschool Humans Immunologic Deficiency Syndromes Infant Megakaryocytes Mental Retardation X-Linked Mitogen-Activated Protein Kinase 1 Osteochondrodysplasias Pedigree Precursor Cells B-Lymphoid Primary Immunodeficiency Diseases Protein Splicing RNA Small Nuclear Retinal Diseases Signal Transduction Exome Sequencing

Patients with ectodermal dysplasia with immunodeficiency (ED-ID) caused by mutations in the inhibitor of NF-κB α (IκBα) are susceptible to severe recurrent infections, despite normal T and B cell numbers and intact in vitro...

Animals Antibody Formation B-Lymphocytes Codon Dermatitis Contact Disease Models Animal Heterozygote Hypersensitivity Delayed I-kappa B Proteins Immunologic Deficiency Syndromes Lymphoid Tissue Mice Mice Transgenic Mutation NF-KappaB Inhibitor alpha Organogenesis Phosphorylation Proteolysis T-Lymphocyte Subsets Toll-Like Receptors Tumor Necrosis Factors

Activated phosphoinositide 3-kinase δ syndrome PIK3CD gene bronchiectasis Hematopoietic Stem Cell Transplantation immunodeficiency p110δ-activating mutation causing senescent T cells lymphadenopathy and immunodeficiency phosphoinositide 3-kinase inhibitor phosphoinositide 3-kinase δ Adolescent Adult Animals Antibiotic Prophylaxis Child Child Preschool Class I Phosphatidylinositol 3-Kinases Cohort Studies Enzyme Inhibitors Female Hematopoietic Stem Cell Transplantation Herpesviridae Infections Humans Immunoglobulins Intravenous Immunologic Deficiency Syndromes Infant International Cooperation Lymphoproliferative Disorders Male Mice Middle Aged Mutation Recurrence Respiratory Tract Infections Surveys and Questionnaires Survival Analysis Young Adult

BACKGROUND: Consensus guidelines are not available for the use of immunoglobulin replacement therapy (IGRT) in patients developing iatrogenic secondary antibody deficiency following B-cell targeted therapy (BCTT) in autoimmune...

ANCA anti-CD20 Hypogammaglobulinemia Infection Rituximab Vasculitis Agammaglobulinemia Antirheumatic Agents Autoimmune Diseases B-Lymphocytes Humans Immunization Passive Immunoglobulins Immunologic Deficiency Syndromes Retrospective Studies Rheumatic Diseases Rituximab

Interleukin-2, which conveys essential signals for immunity, operates through a heterotrimeric receptor. Here we identify human interleukin-2 receptor (IL-2R) β chain (IL2RB) gene defects as a cause of life-threatening immune...

Alleles Autoimmunity Genotype HEK293 Cells Humans Immune Tolerance Immunity Immunologic Deficiency Syndromes Interleukin-2 Receptor beta Subunit Killer Cells Natural Lentivirus Mutation Mutation Missense Phenotype Phosphorylation STAT3 Transcription Factor STAT5 Transcription Factor Signal Transduction T-Lymphocytes

Background: The auto-inflammation and phospholipase Cγ2 (PLCγ2)-associated antibody deficiency and immune dysregulation (APLAID) syndrome is a rare primary immunodeficiency caused by a gain-of-function mutation S707Y in the...

APLAID IL-10 IL-1b PLCγ2 auto-inflammatory syndromes cutis laxa sensorineural deafness Amino Acid Sequence Base Sequence Cutis Laxa DNA Mutational Analysis Female Hereditary Autoinflammatory Diseases Humans Immunologic Deficiency Syndromes Infant Newborn Inflammatory Bowel Diseases Male Mutation Missense Pedigree Phospholipase C gamma Sequence Homology Amino Acid

Phosphoinositide 3-kinase δ (PI3Kδ), a lipid kinase consisting of a catalytic (p110δ, encoded by PIK3CD) and a regulatory subunit (p85, encoded by PIK3R1), generates the second messenger phosphatidylinositol...

Child Class I Phosphatidylinositol 3-Kinases Enterocolitis Genes Recessive Humans Immunologic Deficiency Syndromes Male Purpura Thrombocytopenic Idiopathic

Animals Cell Death Death Domain Receptor Signaling Adaptor Proteins Dermatitis Gene Silencing Host-Pathogen Interactions Humans Immunologic Deficiency Syndromes Inflammation Influenza A virus Keratinocytes Mice Nerve Tissue Proteins Poly I-C Signal Transduction Toll-Like Receptor 3 Transcription Factors Ubiquitin-Protein Ligases

Humans SARS-CoV-2 covid-19 Immunologic Deficiency Syndromes Vaccination

Primary immunodeficiencies are inherited disorders of the immune system, often caused by the mutation of genes required for lymphocyte development and activation. Recently, several studies have identified gain-of-function...

Animals Cell Differentiation Cellular Senescence Enzyme Activation Gene Expression Regulation Humans Immune System Immunity Immunologic Deficiency Syndromes Lymphocyte Activation Lymphocytes Molecular Targeted Therapy Mutation Phosphatidylinositol 3-Kinases Phosphoinositide-3 Kinase Inhibitors Protein Subunits Signal Transduction

BACKGROUND: CCAAT enhancer-binding protein epsilon (C/EBPε) is a transcription factor involved in late myeloid lineage differentiation and cellular function. The only previously known disorder linked to C/EBPε is autosomal...

Immunologic Deficiency Syndromes NLR Family autoinflammatory diseases Chemotaxis gain-of-function mutation hereditary Inflammasomes Interferons neomorphic mutation pyrin domain-containing 3 protein Aged CCAAT-Enhancer-Binding Proteins Caspases Cells Cultured Female Gain of Function Mutation Gene Expression Profiling Humans Immunologic Deficiency Syndromes Inflammasomes Inflammation MACROPHAGES Male NLR Family Pyrin Domain-Containing 3 Protein Neutrophils Pedigree Sequence Analysis RNA Up-Regulation

Abstract Background: Complement factor D (FD) is the rate-limiting enzyme of the alternative complement pathway. Previous reports of FD deficiency featured absent plasma FD (type I deficiency) and susceptibility to...

Complement Factor D Complement Pathway Alternative Female Hereditary Complement Deficiency Diseases Humans Immunologic Deficiency Syndromes Male Mutation Pedigree Protein Conformation Young Adult

The transcriptional programs that guide lymphocyte differentiation depend on the precise expression and timing of transcription factors (TFs). The TF BACH2 is essential for T and B lymphocytes and is associated with an...

Adrenal Cortex Hormones Adult Autoimmune Diseases Basic-Leucine Zipper Transcription Factors Colitis Female Fever Haploinsufficiency Heterozygote Humans Immunologic Deficiency Syndromes Lymphopenia Male Middle Aged Mutation Pancytopenia Pedigree Polymorphism Single Nucleotide Recurrence Respiratory Tract Infections Splenomegaly Syndrome Tomography X-Ray Computed Young Adult