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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 131, Issue 6, pp. 1611 - 1623.e3
Background Mutations in signal transducer and activator of transcription (STAT) 1 cause a broad spectrum of disease, ranging from severe viral and bacterial... 
Allergy and Immunology | Signal transducer and activator of transcription 1 | regulatory T cell | immune dysregulation–polyendocrinopathy–enteropathy–X-linked | chronic mucocutaneous candidiasis | forkhead box protein 3 | aneurysms | immune dysregulation-polyendocrinopathy-enteropathy-X-linked | IMMUNOLOGY | DEFICIENCY | DISEASES | ALLERGY | REGULATORY T-CELLS | IPEX | EXPRESSION | IMMUNODEFICIENCY | T-Lymphocytes, Regulatory - metabolism | Polyendocrinopathies, Autoimmune - diagnosis | Humans | Transcriptional Activation | Interleukin-17 - immunology | Child, Preschool | Male | Intestinal Diseases - immunology | Lymphocyte Subsets - immunology | T-Lymphocytes, Regulatory - immunology | Lymphocyte Subsets - metabolism | STAT1 Transcription Factor - metabolism | Genes, Dominant | Th17 Cells - metabolism | Interleukins - immunology | Female | Genetic Diseases, X-Linked - genetics | Polyendocrinopathies, Autoimmune - genetics | Phosphorylation - drug effects | Child | Intestinal Diseases - genetics | Immunophenotyping | DNA - metabolism | Forkhead Transcription Factors - genetics | STAT1 Transcription Factor - genetics | Genetic Diseases, X-Linked - diagnosis | Syndrome | Interferon-alpha - immunology | Polyendocrinopathies, Autoimmune - immunology | Genetic Diseases, X-Linked - immunology | Intestinal Diseases - diagnosis | Autoantibodies - immunology | Phenotype | Adolescent | Th17 Cells - immunology | Mutation | Cell Line, Transformed | Interferon-gamma - pharmacology | Autoimmunity | Medical colleges | Invisibility | Molecular genetics | Mycoses | Aneurysms | Genetic aspects | Children | Health aspects
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 2, pp. 402 - 412
Background Mutations in dedicator of cytokinesis 8 (DOCK8) cause a combined immunodeficiency (CID) also classified as autosomal recessive (AR) hyper-IgE... 
Allergy and Immunology | Primary combined immunodeficiency | autosomal recessive hyper-IgE syndrome | signal transducer and activator of transcription 3 | Molluscum contagiosum | hyper-IgE syndrome | dedicator of cytokinesis 8 | SURVIVAL | BONE-MARROW-TRANSPLANTATION | STAT3 | GLYCOSYLATION | IMMUNOLOGY | ALLERGY | DOCK8 DEFICIENCY | DISORDER | MUTATIONS | STEM-CELL TRANSPLANTATION | IMMUNODEFICIENCY | Job Syndrome - genetics | Job Syndrome - mortality | Humans | Middle Aged | Child, Preschool | Male | Support Vector Machine | Virus Diseases - complications | Eosinophils - immunology | Immunoglobulin E - blood | CD4-Positive T-Lymphocytes - immunology | Bacterial Infections - genetics | Eosinophils - pathology | Virus Diseases - genetics | Child | Guanine Nucleotide Exchange Factors - deficiency | STAT3 Transcription Factor - genetics | Skin Diseases - mortality | Immunoglobulin M - genetics | Guanine Nucleotide Exchange Factors - genetics | Virus Diseases - immunology | Skin Diseases - immunology | Antigens, Viral - immunology | Phenotype | Skin Diseases - complications | Job Syndrome - complications | Adolescent | Survival Analysis | Virus Diseases - mortality | Mutation | STAT3 Transcription Factor - immunology | CD8-Positive T-Lymphocytes - immunology | Bacterial Infections - mortality | Job Syndrome - immunology | CD8-Positive T-Lymphocytes - pathology | Skin Diseases - genetics | Antigens, Bacterial - immunology | Infant | Antigens, Bacterial - blood | CD4-Positive T-Lymphocytes - pathology | Antigens, Viral - blood | Bacterial Infections - complications | Immunoglobulin E - genetics | Bacterial Infections - immunology | Adult | Female | Immunoglobulin M - blood | Guanine Nucleotide Exchange Factors - immunology | Lymphocyte Count | Genotype & phenotype | Immunoglobulins | Laboratories | Lymphocytes | Families & family life | Lymphomas | Viral infections | Deoxyribonucleic acid--DNA | Immunoglobulin M | Immunoglobulin E | CD8-Positive T-Lymphocytes | Life Sciences | Antigens, Viral | Bacterial Infections | Job Syndrome | CD4-Positive T-Lymphocytes | Virus Diseases | Skin Diseases | Antigens, Bacterial | Guanine Nucleotide Exchange Factors | STAT3 Transcription Factor | Eosinophils
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 133, Issue 5, pp. 1400 - 1409.e5
Background Identifying genetic syndromes that lead to significant atopic disease can open new pathways for investigation and intervention in allergy. Objective... 
Allergy and Immunology | immune deficiency | autoimmunity | phosphoglucomutase 3 | glycosylation | allergy | hyper-IgE | neurocognitive impairment | Atopy | STAT3 MUTATIONS | DOCK8 | NUCLEOTIDE SUGARS | HEALTHY | IMMUNOLOGY | O-GLCNACYLATION | CONGENITAL DISORDERS | Common Variable Immunodeficiency - immunology | CD8-Positive T-Lymphocytes - pathology | Hypersensitivity - enzymology | Humans | Genetic Diseases, Inborn - genetics | Child, Preschool | Hypersensitivity - immunology | Male | Th2 Cells - immunology | Genetic Diseases, Inborn - pathology | Common Variable Immunodeficiency - enzymology | Autoimmune Diseases - genetics | Young Adult | Immunoglobulin E - immunology | Immunoglobulin E - genetics | Female | Hypersensitivity - genetics | B-Lymphocytes - pathology | Cognition Disorders - immunology | Autoimmune Diseases - pathology | Child | Th2 Cells - pathology | Phosphoglucomutase - metabolism | Th17 Cells - pathology | Cognition Disorders - enzymology | B-Lymphocytes - enzymology | Th17 Cells - enzymology | Autoimmune Diseases - enzymology | Autoimmune Diseases - immunology | Cognition Disorders - pathology | Common Variable Immunodeficiency - pathology | Genetic Diseases, Inborn - immunology | Common Variable Immunodeficiency - genetics | Cognition Disorders - genetics | CD8-Positive T-Lymphocytes - enzymology | B-Lymphocytes - immunology | Hypersensitivity - pathology | Pedigree | Genetic Diseases, Inborn - enzymology | Th17 Cells - immunology | Family | Phosphoglucomutase - immunology | Mutation | CD8-Positive T-Lymphocytes - immunology | Th2 Cells - enzymology | Phosphoglucomutase - genetics | Autoimmunity | Nervous system diseases | Genomics | Immunodeficiency | Genetic research | Disease susceptibility | Genetic aspects | Food allergies | Enzymes | Nuclear magnetic resonance--NMR | Disease | Infections | Dermatitis | Patients | Allergies | Asthma | Defects | Proteins | Lasers | Spectrum analysis | Viral infections
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 2, pp. AB108 - AB108
  Methods DNA sequencing was performed revealing compound heterozygote DOCK8 mutations with missense and frameshift mutations within the coding alleles. 
Allergy and Immunology | Immunoglobulins | Mutation
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 131, Issue 3, pp. 840 - 848
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2017, Volume 141, Issue 1, pp. 365 - 371
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2010, Volume 125, Issue 2, pp. 424 - 432.e8
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 133, Issue 6, pp. 1667 - 1675
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 132, Issue 6, pp. 1388 - 1396.e3
Journal Article
Immunology and Allergy Clinics of North America, ISSN 0889-8561, 05/2008, Volume 28, Issue 2, pp. 277 - 291
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 4, pp. 1222 - 1224.e2
[...]GOF and loss-of-function mutations in STAT3 are not so much a function of the region of STAT3 in which they occur as they are a function of their effect... 
Allergy and Immunology | HYPER-IGE SYNDROME | IMMUNOLOGY | ALLERGY | GRANULAR LYMPHOCYTIC-LEUKEMIA | Communicable diseases | Genetic aspects | Cells | Proteins | Lymphomas | Mutation | Plasmids | Leukemia | Deoxyribonucleic acid--DNA | Job’s syndrome | Large Granular Lymphocytic leukemia (LGL) | autoimmunity | HIES | STAT3
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 137, Issue 6, pp. 1895 - 1898.e5
  Patient 7 also had a history of anaphylaxis to walnut as recently as 3 years before HSCT. Because of persisting positive skin prick tests, he continued to... 
Allergy and Immunology | FARM MILK CONSUMPTION | ALLERGY | BONE-MARROW-TRANSPLANTATION | DOCK8 DEFICIENCY | MICRORNAS | IMMUNOLOGY | ASSOCIATION | EXPRESSION | CHILDHOOD ASTHMA | LONG | Food allergy | Transplantation | Communicable diseases | Hematopoietic stem cells | Stem cells | Food allergies | Peanuts | Bone marrow | Patients | Eggs | Food
Journal Article