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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 3, pp. 655 - 662.e8
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 1, pp. 233 - 236.e3
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2011, Volume 128, Issue 2, pp. 382 - 389.e1
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 6, pp. 1354 - 1364.e6
Background Inflammatory bowel disease (IBD) is one of the most common chronic gastrointestinal diseases, but the underlying molecular mechanisms remain largely... 
Allergy and Immunology | Inflammatory bowel disease | immune deficiency | lymphocytes | RhoA kinase | cytoskeleton | gut organoid | cell homeostasis | tetratricopeptide repeat domain 7A deficiency | Duodenum | Inflammatory Bowel Diseases | Humans | Middle Aged | Child, Preschool | Infant | Male | rhoA GTP-Binding Protein | Pyloric Antrum | Mutation, Missense | Proteins | Young Adult | Alopecia | Lymphopenia | rho-Associated Kinases | Adolescent | Adult | Female | Colon | Child | cytoskeleton gut organoid | DENDRITIC CELLS | CROHNS-DISEASE | MECHANISMS | IMMUNOLOGY | PLASMA-MEMBRANE | PATHOGENESIS | GENE | ALLERGY | RHO GTPASES | FLAKY SKIN | TTC7A MUTATIONS | IMMUNODEFICIENCY | rhoA GTP-Binding Protein - immunology | Alopecia - immunology | Inflammatory Bowel Diseases - immunology | Lymphopenia - pathology | rho-Associated Kinases - antagonists & inhibitors | Alopecia - genetics | Inflammatory Bowel Diseases - pathology | Inflammatory Bowel Diseases - genetics | Colon - pathology | Pyloric Antrum - pathology | Proteins - immunology | Alopecia - pathology | Proteins - genetics | Duodenum - pathology | rho-Associated Kinases - immunology | Lymphopenia - immunology | Lymphopenia - genetics | Developmental biology | Gastrointestinal diseases | Stem cells | Immunodeficiency | Autoimmunity | Baldness | Analysis | Lymphocytopenia | Studies | Parenteral nutrition | Mutation | Patients | Age | Immune system | Apoptosis
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2011, Volume 129, Issue 3, pp. 770 - 777
Background Primary immunoglobulin deficiencies lead to recurrent bacterial infections of the respiratory tract and bronchiectasis, even with adequate... 
Allergy and Immunology | infections | immunodeficiency | immunoglobulins | Haemophilus influenzae | IgM | INDUCED CYTIDINE DEAMINASE | X-LINKED AGAMMAGLOBULINEMIA | BRONCHIECTASIS | COMMON VARIABLE IMMUNODEFICIENCY | IMMUNOLOGY | MOLECULAR ANALYSIS | IMMUNIZATION | OUTER-MEMBRANE PROTEIN | ALLERGY | DISEASE | REPLACEMENT THERAPY | INFECTION | Respiratory System - pathology | Agammaglobulinemia - immunology | Antibodies, Viral - metabolism | Prospective Studies | Humans | Haemophilus Infections - epidemiology | Male | Risk | Haemophilus Infections - complications | Immunoglobulin M - immunology | Incidence | Immunoglobulin M - metabolism | Respiratory System - virology | Female | Child | Hyper-IgM Immunodeficiency Syndrome - complications | Respiratory System - immunology | Agammaglobulinemia - complications | Hyper-IgM Immunodeficiency Syndrome - epidemiology | Adolescent | Haemophilus influenzae - immunology | Hyper-IgM Immunodeficiency Syndrome - immunology | Antibodies, Viral - immunology | Haemophilus Infections - immunology | Haemophilus influenzae - pathogenicity | Agammaglobulinemia - epidemiology | Tyrosine | Care and treatment | Immunoglobulins | Bacterial infections | Hemophilus infections | Immunodeficiency | Disease susceptibility | Plasma | Antibiotics | Lymphocytes | Bacteria | Chronic obstructive pulmonary disease | Kinases | Multivariate analysis | Age | Streptococcus infections | Immunoglobulin M | Agammaglobulinemia | Respiratory System | Antibodies, Viral | Life Sciences | Microbiology and Parasitology | Haemophilus Infections | Hyper-IgM Immunodeficiency Syndrome
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2011, Volume 128, Issue 4, pp. 847 - 853
Background Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disorder characterized by short-limbed skeletal dysplasia. Some patients also have... 
Allergy and Immunology | primary immunodeficiency | granulomatous inflammation | Cartilage-hair hypoplasia | progressive multifocal leukoencephalopathy | anti–TNF-α mAb therapy | infliximab | anti-TNF-α mAb therapy | anti-TNF-alpha mAb therapy | RAG MUTATIONS | CROHNS-DISEASE | BONE-MARROW-TRANSPLANTATION | COMMON VARIABLE IMMUNODEFICIENCY | IMMUNE-DEFICIENCY | IMMUNOLOGY | CASEATING CUTANEOUS GRANULOMAS | TUMOR-NECROSIS-FACTOR | INFECTIOUS-DISEASES | ALLERGY | ATAXIA-TELANGIECTASIA | Immunologic Deficiency Syndromes - pathology | Inflammation - pathology | Leukoencephalopathy, Progressive Multifocal - therapy | Osteochondrodysplasias - pathology | Hair - abnormalities | Dermatitis - immunology | Humans | Antibodies, Monoclonal - adverse effects | Child, Preschool | Male | Granuloma - therapy | Transplantation, Homologous | Hirschsprung Disease - immunology | Tumor Necrosis Factor-alpha - immunology | Female | Retrospective Studies | Immunologic Deficiency Syndromes - immunology | Child | Antibodies, Monoclonal - immunology | Leukoencephalopathy, Progressive Multifocal - immunology | Immunologic Deficiency Syndromes - therapy | Hair - pathology | Osteochondrodysplasias - immunology | Risk Factors | Hirschsprung Disease - pathology | Hematopoietic Stem Cell Transplantation | Inflammation - immunology | Hair - immunology | Dermatitis - pathology | Dermatitis - therapy | Granuloma - pathology | Inflammation - therapy | Antibodies, Monoclonal - administration & dosage | Osteochondrodysplasias - congenital | Hirschsprung Disease - therapy | Granuloma - immunology | Leukoencephalopathy, Progressive Multifocal - pathology | Osteochondrodysplasias - therapy | Tumor Necrosis Factor-alpha - antagonists & inhibitors
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 1, pp. 116 - 126.e11
Background Common variable immunodeficiency (CVID) is an antibody deficiency with an equal sex distribution and a high variability in clinical presentation.... 
Allergy and Immunology | patient self-reported outcomes | treatment | Common variable immunodeficiency | primary antibody deficiency | autoimmunity | enteropathy | immunoglobulin replacement | quality of life | lymphadenopathy | granulomas | INFECTIONS | PHENOTYPES | IMMUNOLOGY | DEFICIENCY | IGM | TRIAL | B-CELL | ALLERGY | HYPOGAMMAGLOBULINEMIA | INTRAVENOUS IMMUNOGLOBULIN | DISEASE | Autoimmunity | Common Variable Immunodeficiency - immunology | Common Variable Immunodeficiency - drug therapy | Humans | Child, Preschool | Lymphoproliferative Disorders - complications | Male | Lymphoproliferative Disorders - immunology | Splenomegaly - pathology | Bronchiectasis - pathology | Common Variable Immunodeficiency - mortality | Pneumonia - mortality | Pneumonia - immunology | Adult | Female | Retrospective Studies | Child | Europe | Delayed Diagnosis | Common Variable Immunodeficiency - complications | Lymphoproliferative Disorders - mortality | Pneumonia - drug therapy | Immunoglobulins, Intravenous - therapeutic use | Adolescent | Age of Onset | Survival Analysis | Pneumonia - complications | Lymphoproliferative Disorders - drug therapy | Immunological deficiency syndromes | Care and treatment | Health aspects | Respiratory tract diseases | Studies | Pneumonia | Meningitis | Lymphomas | Multivariate analysis | Patients | Age | Data bases
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2012, Volume 7, Issue 8, p. e44010
Epidermodysplasia verruciformis (EV) is characterized by persistent cutaneous lesions caused by a specific group of related human papillomavirus genotypes... 
SEQUENCING-BASED DISCOVERY | XERODERMA-PIGMENTOSUM | EVER1/TMC6 GENE | MULTIDISCIPLINARY SCIENCES | EPIDERMODYSPLASIA-VERRUCIFORMIS | MUTATION | JAPANESE PATIENT | HUMAN PAPILLOMAVIRUSES | STEM-CELL TRANSPLANTATION | DNA-REPAIR | REFERENCE VALUES | Mitogens - pharmacology | Papillomaviridae - drug effects | Humans | Molecular Sequence Data | Infant | Male | Proto-Oncogene Proteins - chemistry | Epidermodysplasia Verruciformis - microbiology | Young Adult | T-Lymphocytes - drug effects | Base Sequence | Hepatocyte Growth Factor - genetics | Inheritance Patterns - genetics | Epidermodysplasia Verruciformis - immunology | Hepatocyte Growth Factor - chemistry | T-Lymphocytes - pathology | Papillomaviridae - physiology | Child | Amino Acid Sequence | Genetic Predisposition to Disease | Epidermodysplasia Verruciformis - genetics | Immunophenotyping | Proto-Oncogene Proteins - genetics | Proto-Oncogene Proteins - deficiency | Antigens, Viral - immunology | Hepatocyte Growth Factor - deficiency | Homozygote | Exome - genetics | Adolescent | Cell Proliferation - drug effects | Epidermodysplasia Verruciformis - virology | Codon, Nonsense - genetics | Complications and side effects | Physiological aspects | Development and progression | Disease susceptibility | Genetic aspects | Research | T cells | Papillomavirus infections | Pediatrics | Transplants & implants | Laboratories | Pathogenesis | Infections | Lymphocytes T | Genomes | Human papillomavirus | Etiology | Lymphocytes | Genetics | Bacteria | Lesions | Bioinformatics | Genotypes | Age | Siblings | Immune system | Hematology | Epidermodysplasia verruciformis | Patients | Medicine | Infectious diseases | Hospitals | Mutation | Viral infections
Journal Article
Nature Immunology, ISSN 1529-2908, 12/2012, Volume 13, Issue 12, pp. 1178 - 1186
Journal Article