The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

Background Mutations in dedicator of cytokinesis 8 (DOCK8) cause a combined immunodeficiency (CID) also classified as autosomal recessive (AR) hyper-IgE syndrome (HIES). Recognizing patients with CID/HIES is of clinical importance because of the difference in prognosis and management. Objectives We...

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Veröffentlicht in:	Journal of allergy and clinical immunology 2015-08, Vol.136 (2), p.402-412
Hauptverfasser:	Engelhardt, Karin R., PhD, Gertz, Michael E., PhD, Keles, Sevgi, MD, Schäffer, Alejandro A., PhD, Sigmund, Elena C., BSc, Glocker, Cristina, PhD, Saghafi, Shiva, MSc, Pourpak, Zahra, MD, PhD, Ceja, Ruben, MSc, Sassi, Atfa, PhD, Graham, Laura E., BSc, MBChB, Massaad, Michel J., PhD, Mellouli, Fethi, MD, Ben-Mustapha, Imen, MD, Khemiri, Monia, MD, Kilic, Sara Sebnem, MD, Etzioni, Amos, MD, Freeman, Alexandra F., MD, Thiel, Jens, MD, Schulze, Ilka, MD, Al-Herz, Waleed, MD, Metin, Ayse, MD, PhD, Sanal, Özden, MD, Tezcan, Ilhan, MD, Yeganeh, Mehdi, MD, Niehues, Tim, MD, Dueckers, Gregor, MD, Weinspach, Sebastian, MD, Patiroglu, Turkan, MD, Unal, Ekrem, MD, Dasouki, Majed, MD, Yilmaz, Mustafa, MD, Genel, Ferah, MD, Aytekin, Caner, MD, Kutukculer, Necil, MD, Somer, Ayper, MD, Kilic, Mehmet, MD, Reisli, Ismail, MD, Camcioglu, Yildiz, MD, Gennery, Andrew R., MD, Cant, Andrew J., MD, Jones, Alison, MD, Gaspar, Bobby H., MD, Arkwright, Peter D., MD, DPhil, Pietrogrande, Maria C., MD, Baz, Zeina, MD, Al-Tamemi, Salem, MD, Lougaris, Vassilios, MD, Lefranc, Gerard, PhD, Megarbane, Andre, MD, PhD, Boutros, Jeannette, MD, Galal, Nermeen, MD, Bejaoui, Mohamed, MD, Barbouche, Mohamed-Ridha, MD, PhD, Geha, Raif S., MD, Chatila, Talal A., MD, MSc, Grimbacher, Bodo, MD
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Allergy and Immunology Antigens, Bacterial Antigens, Bacterial - blood Antigens, Bacterial - immunology Antigens, Viral Antigens, Viral - blood Antigens, Viral - immunology autosomal recessive hyper-IgE syndrome Bacterial Infections Bacterial Infections - complications Bacterial Infections - genetics Bacterial Infections - immunology Bacterial Infections - mortality CD4-Positive T-Lymphocytes CD4-Positive T-Lymphocytes - immunology CD4-Positive T-Lymphocytes - pathology CD8-Positive T-Lymphocytes CD8-Positive T-Lymphocytes - immunology CD8-Positive T-Lymphocytes - pathology Child Child, Preschool dedicator of cytokinesis 8 Deoxyribonucleic acid DNA Eosinophils Eosinophils - immunology Eosinophils - pathology Families & family life Female Genotype & phenotype Guanine Nucleotide Exchange Factors Guanine Nucleotide Exchange Factors - deficiency Guanine Nucleotide Exchange Factors - genetics Guanine Nucleotide Exchange Factors - immunology Humans hyper-IgE syndrome Immunoglobulin E Immunoglobulin E - blood Immunoglobulin E - genetics Immunoglobulin M Immunoglobulin M - blood Immunoglobulin M - genetics Immunoglobulins Infant Job Syndrome Job Syndrome - complications Job Syndrome - genetics Job Syndrome - immunology Job Syndrome - mortality Laboratories Life Sciences Lymphocyte Count Lymphocytes Lymphoma Male Middle Aged Molluscum contagiosum Mutation Phenotype Primary combined immunodeficiency signal transducer and activator of transcription 3 Skin Diseases Skin Diseases - complications Skin Diseases - genetics Skin Diseases - immunology Skin Diseases - mortality STAT3 Transcription Factor STAT3 Transcription Factor - genetics STAT3 Transcription Factor - immunology Support Vector Machine Survival Analysis Viral infections Virus Diseases Virus Diseases - complications Virus Diseases - genetics Virus Diseases - immunology Virus Diseases - mortality
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