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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2010, Volume 125, Issue 2, pp. S182 - S194
In the last years, advances in molecular genetics and immunology have resulted in the identification of a growing number of genes causing primary... 
Allergy and Immunology | innate immunity defects | hematopoietic cell transplantation | T-cell immunodeficiency | antibody deficiency | gene therapy | Primary immunodeficiency | immunoglobulin replacement therapy | CLASS SWITCH RECOMBINATION | CHRONIC GRANULOMATOUS-DISEASE | BONE-MARROW-TRANSPLANTATION | COMBINED IMMUNE-DEFICIENCY | WISKOTT-ALDRICH-SYNDROME | COMMON VARIABLE IMMUNODEFICIENCY | ADENYLATE KINASE 2 | IMMUNOLOGY | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME | ALLERGY | ADENOSINE-DEAMINASE DEFICIENCY | STEM-CELL TRANSPLANTATION | Genetic Therapy | Immunologic Deficiency Syndromes - therapy | Genetic Predisposition to Disease | Genetic Testing | Immunity, Cellular - genetics | Humans | Immunity, Innate - genetics | Hematopoietic Stem Cell Transplantation | Polymorphism, Genetic | Animals | Immunoglobulins, Intravenous - therapeutic use | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - diagnosis | Immunologic Deficiency Syndromes - immunology | Infant, Newborn | Tyrosine | Phosphates | Niacinamide | Coenzymes | Adenosine | Genetic disorders | Bacterial infections | Dendritic cells | Molecular genetics | Peptides | Immunodeficiency | Immunoglobulin E | Transplantation | Immunoglobulin A | T cells | Hematopoietic stem cells | Diseases | Purines | Pyrimidines | Cyclophilin | Analysis | Lectins | Children | Enzymes | Cytomegalovirus | Cytokines | Pathogenesis | Defects | Streptococcus infections | Human subjects | Genotype & phenotype | Antibiotics | Lymphocytes | Medical prognosis | Immune system | Apoptosis
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2009, Volume 124, Issue 6, pp. 1161 - 1178
Journal Article
Infectious Disease Clinics of North America, ISSN 0891-5520, 06/2018, Volume 32, Issue 2, pp. 407 - 423
Journal Article
Seminars in Cell and Developmental Biology, ISSN 1084-9521, 02/2019, Volume 86, pp. 50 - 61
Journal Article
Current Opinion in Pediatrics, ISSN 1040-8703, 12/2013, Volume 25, Issue 6, pp. 736 - 747
Purpose of reviewWe review the primary immunodeficiencies (PIDs) underlying an increasing variety of superficial and invasive fungal infections. We also stress... 
endemic mycosis | STAT1 | autoantibodies against GM-CSF | CARD9 | pneumocystosis | chronic mucocutaneous candidiasis | interleukin-17 | invasive aspergillosis | superficial and invasive fungal diseases | NADPH oxidase complex | primary immunodeficiencies | IFN-g/interleukin-12 | X-linked CD40L deficiency | deep dermatophytosis | Candida central nervous system infection | candidiasis | autoantibodies against IFN-g | autoantibodies against IFN | PNEUMOCYSTIS-CARINII-PNEUMONIA | DOMAIN-CONTAINING PROTEIN | CHRONIC GRANULOMATOUS-DISEASE | interleukin-12 | IFN | SIGNAL-TRANSDUCER | PEDIATRICS | DERMATOPHYTIC DISEASE | FUNCTION STAT1 MUTATIONS | INBORN-ERRORS | HYPER-IGE SYNDROME | AUTOSOMAL-DOMINANT | Humans | Genetic Diseases, Inborn - genetics | Interleukin-17 - immunology | Child, Preschool | Infant | Male | T-Lymphocytes, Helper-Inducer - immunology | Adult | Female | Immunologic Deficiency Syndromes - immunology | Child | Infant, Newborn | Autoantibodies | Disease Susceptibility | Immunity, Cellular - genetics | Immunologic Deficiency Syndromes - complications | Candidiasis, Chronic Mucocutaneous - genetics | Risk Factors | Aspergillosis - genetics | Candidiasis, Chronic Mucocutaneous - immunology | Genetic Diseases, Inborn - immunology | Pneumonia, Pneumocystis - immunology | Mycoses - genetics | Adolescent | Pneumonia, Pneumocystis - genetics | Immunologic Deficiency Syndromes - genetics | Mycoses - immunology | Aspergillosis - immunology | autoantibodies against IFN-γ | IL-12 | IFN-γ | primary immunodeficiencies (PIDs) | IL-17
Journal Article
Journal Article
by Stray-Pedersen, Asbjørg, MD, PhD and Sorte, Hanne Sørmo, MS and Samarakoon, Pubudu, MS and Gambin, Tomasz, PhD and Chinn, Ivan K., MD and Coban Akdemir, Zeynep H., PhD and Erichsen, Hans Christian, MD, PhD and Forbes, Lisa R., MD and Gu, Shen, PhD and Yuan, Bo, PhD and Jhangiani, Shalini N., MS and Muzny, Donna M., MS and Rødningen, Olaug Kristin, PhD and Sheng, Ying, PhD and Nicholas, Sarah K., MD, PhD and Noroski, Lenora M., MD, MPH and Seeborg, Filiz O., MD, MPH and Davis, Carla M., MD and Canter, Debra L., MS and Mace, Emily M., PhD and Vece, Timothy J., MD and Allen, Carl E., MD, PhD and Abhyankar, Harshal A., MS and Boone, Philip M., MD, PhD and Beck, Christine R., PhD and Wiszniewski, Wojciech, MD, PhD and Fevang, Børre, MD, PhD and Aukrust, Pål, MD, PhD and Tjønnfjord, Geir E., MD, PhD and Gedde-Dahl, Tobias, MD, PhD and Hjorth-Hansen, Henrik, MD, PhD and Dybedal, Ingunn, MD, PhD and Nordøy, Ingvild, MD, PhD and Jørgensen, Silje F., MD and Abrahamsen, Tore G., MD, PhD and Øverland, Torstein, MD and Bechensteen, Anne Grete, MD, PhD and Skogen, Vegard, MD, PhD and Osnes, Liv T.N., MD, PhD and Kulseth, Mari Ann, PhD and Prescott, Trine E., MD and Rustad, Cecilie F., MD and Heimdal, Ketil R., MD, PhD and Belmont, John W., MD, PhD and Rider, Nicholas L., DO and Chinen, Javier, MD, PhD and Cao, Tram N., MS and Smith, Eric A., BSc and Caldirola, Maria Soledad, BSc and Bezrodnik, Liliana, MD and Lugo Reyes, Saul Oswaldo, MD and Espinosa Rosales, Francisco J., MD and Guerrero-Cursaru, Nina Denisse, BSc and Pedroza, Luis Alberto, PhD and Poli, Cecilia M., MD and Franco, Jose L., MD, PhD and Trujillo Vargas, Claudia M., PhD and Aldave Becerra, Juan Carlos, MD and Wright, Nicola, MD and Issekutz, Thomas B., MD and Issekutz, Andrew C., MD and Abbott, Jordan, MD and Caldwell, Jason W., DO and Bayer, Diana K., DO and Chan, Alice Y., MD, PhD and Aiuti, Alessandro, MD, PhD and Cancrini, Caterina, MD, PhD and Holmberg, Eva, MD and West, Christina, MD, PhD and Burstedt, Magnus, MD, PhD and Karaca, Ender, MD and Yesil, Gözde, MD and Artac, Hasibe, MD and Bayram, Yavuz, MD and Atik, Mehmed Musa, BSc and Eldomery, Mohammad K., MD and Ehlayel, Mohammad S., MD, PhD and Jolles, Stephen, MD, PhD and Flatø, Berit, MD, PhD and Bertuch, Alison A., MD, PhD and Hanson, I. Celine, MD and Zhang, Victor W., PhD and Wong, Lee-Jun, PhD and Hu, Jianhong, PhD and Walkiewicz, Magdalena, PhD and Yang, Yaping, PhD and Eng, Christine M., MD and Boerwinkle, Eric, PhD and Gibbs, Richard A., PhD and Shearer, William T., MD, PhD and Lyle, Robert, PhD and Orange, Jordan S., MD, PhD and Lupski, James R., MD, PhD, DSc (Hon) and Medicinska fakulteten and Institutionen för klinisk vetenskap and Pediatrik and Umeå universitet
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 1, pp. 232 - 245
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 1/2018, Volume 38, Issue 1, pp. 129 - 143
Since the 1990s, the International Union of Immunological Societies (IUIS) PID expert committee (EC), now called Inborn Errors of Immunity Committee, has... 
Medical Microbiology | Biomedicine | Immunology | Primary immunodeficiencies | IUIS | Classification | Infectious Diseases | Internal Medicine | Inborn errors of immunity | Phenotypic | DISEASES | IMMUNOLOGY | Immunodeficiency | Hypersensitivity | Malignancy | Original
Journal Article