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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. 1410 - 1419.e13
Background Recurrent bacterial and fungal infections, eczema, and increased serum IgE levels characterize patients with the hyper-IgE syndrome (HIES). Known... 
Allergy and Immunology | glycosylation | Hyper-IgE syndrome | signal transducer and activator of transcription 3 | phosphoglucomutase 3 | Staphylococcus aureus | dedicator of cytokinesis 8 | DESIGN | DOCK8 | STAT3 | IMMUNOLOGY | IDENTIFICATION | DEFICIENCY | PROBES | ALLERGY | CLONING | CONGENITAL DISORDERS | MUTASE | Job Syndrome - immunology | Cell Proliferation | Job Syndrome - genetics | T-Lymphocytes - enzymology | Humans | Genetic Diseases, Inborn - genetics | Immunoglobulin E | Infant | Male | Mutation, Missense | Job Syndrome - enzymology | Adult | Female | Child | Tunisia | Genetic Linkage | Phosphoglucomutase - metabolism | Genetic Diseases, Inborn - immunology | Glycosylation | Chromosomes, Human, Pair 6 - genetics | Homozygote | Chromosomes, Human, Pair 6 - metabolism | Genetic Diseases, Inborn - enzymology | T-Lymphocytes - immunology | Phosphoglucomutase - immunology | Immunity - genetics | Phosphoglucomutase - genetics | Amino Acid Substitution | Enzymes | Polysaccharides | Molecular genetics | Stem cells | Physiological aspects | Mycoses | Genetic aspects | Cellular signal transduction | Disease susceptibility | Genetic transcription | Proteins | Signal transduction | Cell growth | Polypeptides | Disease | Values | Mutation | Tetanus | Kinases | Chromosomes | T-Lymphocytes | Genetic Diseases, Inborn | Chromosomes, Human, Pair 6 | Immunity | Phosphoglucomutase | Life Sciences | Immunology | Job Syndrome | PGM3 | Basic Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Immunologi inom det medicinska området | Immunology in the medical area
Journal Article
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 11/2015, Volume 35, Issue 8, pp. 745 - 753
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 4/2016, Volume 36, Issue 3, pp. 187 - 194
X-linked agammagobulinemia (XLA) is a primary immunodeficiency caused by Bruton’s tyrosine kinase (BTK) gene defect. XLA patients have absent or reduced number... 
Medical Microbiology | north african population | Biomedicine | Immunology | novel mutations | BTK | Infectious Diseases | Internal Medicine | XLA | GENOTYPE-PHENOTYPE CORRELATION | GENE-MUTATIONS | GENOMIC ORGANIZATION | IMMUNOLOGY | IDENTIFICATION | B-CELLS | BRUTONS TYROSINE KINASE | FAMILIES | AGAMMAGLOBULINEMIA XLA | Agammaglobulinemia - immunology | Agammaglobulinemia - genetics | Humans | Child, Preschool | Genetic Diseases, X-Linked - complications | Agammaglobulinemia - diagnosis | Infant | Male | Genetic Counseling | Protein-Tyrosine Kinases - immunology | Protein-Tyrosine Kinases - genetics | Morocco | Adult | Genetic Diseases, X-Linked - genetics | Algeria | Opportunistic Infections - immunology | B-Lymphocytes - pathology | Child | Tunisia | Opportunistic Infections - complications | Gene Expression | Agammaglobulinemia - complications | Genetic Association Studies | Gene Frequency | Opportunistic Infections - genetics | Sequence Analysis, DNA | Genetic Diseases, X-Linked - diagnosis | Opportunistic Infections - diagnosis | Genetic Diseases, X-Linked - immunology | B-Lymphocytes - immunology | Age of Onset | Alleles | Heterozygote | Mutation | Genetic research | Genetic aspects | B cells | Agammaglobulinemia/diagnosis | Protein-Tyrosine Kinases/genetics | Agammaglobulinemia/complications | Life Sciences | Agammaglobulinemia/genetics | Genetic Diseases, X-Linked/complications | Opportunistic Infections/complications | Biochemistry, Molecular Biology | Agammaglobulinemia/immunology | Genetic Diseases, X-Linked/immunology | B-Lymphocytes/pathology | Genetic Diseases, X-Linked/diagnosis | Opportunistic Infections/diagnosis | B-Lymphocytes/immunology | Protein-Tyrosine Kinases/immunology | Agammaglobulinaemia Tyrosine Kinase | Opportunistic Infections/immunology | Opportunistic Infections/genetics | Genetic Diseases, X-Linked/genetics
Journal Article
by Shay, Jerry W and Homma, Noriko and Zhou, Ruyun and Naseer, Muhammad Imran and Chaudhary, Adeel G and Al-Qahtani, Mohammed and Hirokawa, Nobutaka and Goudarzi, Maryam and Fornace, Albert J and Baeesa, Saleh and Hussain, Deema and Bangash, Mohammed and Alghamdi, Fahad and Schulten, Hans-Juergen and Carracedo, Angel and Khan, Ishaq and Qashqari, Hanadi and Madkhali, Nawal and Saka, Mohamad and Saini, Kulvinder S and Jamal, Awatif and Al-Maghrabi, Jaudah and Abuzenadah, Adel and Chaudhary, Adeel and Al Qahtani, Mohammed and Damanhouri, Ghazi and Alkhatabi, Heba and Goodeve, Anne and Crookes, Laura and Niksic, Nikolas and Beauchamp, Nicholas and Abuzenadah, Adel M and Vaught, Jim and Budowle, Bruce and Assidi, Mourad and Buhmeida, Abdelbaset and Merdad, Leena and Kumar, Sudhir and Miura, Sayaka and Gomez, Karen and Rasool, Mahmood and Rebai, Ahmed and Karim, Sajjad and Eldin, Hend F. Nour and Abusamra, Heba and Alhathli, Elham M and Salem, Nada and Al-Qahtani, Mohammed H and Faheem, Hossam and Agarwa, Ashok and Nieschlag, Eberhard and Wistuba, Joachim and Damm, Oliver S and Beg, Mohd A and Abdel-Meguid, Taha A and Mosli, Hisham A and Bajouh, Osama S and Coskun, Serdar and Abu-Elmagd, Muhammad and Dallol, Ashraf and Hakamy, Sahar and Al-Qahtani, Wejdan and Al-Harbi, Asia and Hussain, Shireen and Ozkosem, Burak and DuBois, Rick and Messaoudi, Safia S and Dandana, Maryam T and Mahjoub, Touhami and Almawi, Wassim Y and Abdalla, S and Al-Aama, M. Nabil and Elzawahry, Asmaa and Takahashi, Tsuyoshi and Mimaki, Sachiyo and Furukawa, Eisaku and Nakatsuka, Rie and Kurosaka, Isao and Nishigaki, Takahiko and Nakamura, Hiromi and Serada, Satoshi and Naka, Tetsuji and Hirota, Seiichi and Shibata, Tatsuhiro and Tsuchihara, Katsuya and Nishida, Toshirou and Kato, Mamoru and Mehmood, Sajid and Ashraf, Naeem Mahmood and Asif, Awais and Bilal, Muhammad and Mehmood, Malik Siddique and Hussain, Aadil and Jamal, Qazi Mohammad Sajid and Siddiqui, Mughees Uddin and Alzohairy, Mohammad A and Al Karaawi, Mohammad A and Nedjadi, Taoufik and Al-Khattabi, Heba and Al-Ammari, Adel and ...
BMC genomics, ISSN 1471-2164, 07/2016, Volume 17 Suppl 6, Issue S6, p. 487
Journal Article
Mediterranean Journal of Hematology and Infectious Diseases, ISSN 2035-3006, 2018, Volume 10, Issue 1, pp. e2018065 - e2018065
Skin manifestations are frequent among patients with primary immunodeficiency diseases (PIDs). Their prevalence varies according to the type of... 
Wiskott aldrich syndrome | Cutaneous infections | Cutaneous manifestations | Primary immunodeficiency | INFECTIOUS DISEASES | DERMATOLOGICAL MANIFESTATIONS | Wiskott Aldrich syndrome | SKIN MANIFESTATIONS | HEMATOLOGY | ATAXIA-TELANGIECTASIA | CANCER | Life Sciences | Child | Skin | Primary Immunodeficiency
Journal Article
Mediterranean journal of hematology and infectious diseases, ISSN 2035-3006, 2018, Volume 10, Issue 1, p. e2018065
Skin manifestations are frequent among patients with primary immunodeficiency diseases (PIDs). Their prevalence varies according to the type of... 
Journal Article
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