Articles

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
abridged index medicus (4) 4
index medicus (4) 4
adolescent (3) 3
adult (3) 3
allergy (3) 3
child (3) 3
child, preschool (3) 3
female (3) 3
humans (3) 3
immunology (3) 3
infant (3) 3
male (3) 3
middle aged (3) 3
mutation (3) 3
young adult (3) 3
aged (2) 2
allergy and immunology (2) 2
autoantibodies (2) 2
autoimmune diseases (2) 2
chronic mucocutaneous candidiasis (2) 2
genomics (2) 2
laboratories (2) 2
100 (1) 1
antibody diversity (1) 1
antigens (1) 1
article (1) 1
autoantibodies - blood (1) 1
autoantibodies - immunology (1) 1
autoantigens - immunology (1) 1
autoimmunity (1) 1
autosomal-dominant gain (1) 1
bacterial infections (1) 1
baff (1) 1
basic medicine (1) 1
bone marrow (1) 1
bone-marrow-transplantation (1) 1
candidiasis, chronic mucocutaneous - genetics (1) 1
cells (1) 1
children (1) 1
chronic granulomatous-disease (1) 1
clinical phenotype (1) 1
clinical trials and observations (1) 1
cloning (1) 1
cohort studies (1) 1
colleges & universities (1) 1
combined immunodeficiency (1) 1
common variable immunodeficiency (1) 1
complications (1) 1
congenital, hereditary, and neonatal diseases and abnormalities (1) 1
copy number variants (1) 1
cytokines (1) 1
data collection (1) 1
deficiency (1) 1
deoxyribonucleic acid--dna (1) 1
dna copy number variations (1) 1
epitopes (1) 1
ex-vivo (1) 1
function signal transducer (1) 1
function stat1 mutations (1) 1
gain of function (1) 1
genes (1) 1
genetic association studies (1) 1
genetic diseases, x-linked - genetics (1) 1
genetic diseases, x-linked - immunology (1) 1
genetic predisposition to disease (1) 1
genetic-variants (1) 1
genotype & phenotype (1) 1
germline mutations (1) 1
graft rejection (1) 1
graft-versus-host disease (1) 1
graft-versus-host reaction (1) 1
grafting (1) 1
grafts (1) 1
health aspects (1) 1
hematology (1) 1
hematopoietic stem cell transplantation (1) 1
hematopoietic stem cells (1) 1
hemic and lymphatic diseases (1) 1
hemophagocytic lymphohistiocytosis (1) 1
hemopoiesis (1) 1
heterozygote (1) 1
high-throughput nucleotide sequencing (1) 1
histiocytosis (1) 1
homozygous card9 mutation (1) 1
human subjects (1) 1
hyper-ige syndrome (1) 1
il-17 immunity (1) 1
immune dysregulation (1) 1
immunodeficiency (1) 1
immunoglobulins (1) 1
immunologic deficiency syndromes - genetics (1) 1
immunological deficiency syndromes (1) 1
inborn-errors (1) 1
infections (1) 1
inflammatory bowel disease (1) 1
janus kinase (1) 1
kinases (1) 1
klinikai orvostudományok (1) 1
lymphocytosis (1) 1
macromolecular substances (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
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
Background Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300... 
Allergy and Immunology | Primary immunodeficiency disease | whole-exome sequencing | copy number variants | WHOLE-GENOME | PRACTICE PARAMETER | SEVERE INTELLECTUAL DISABILITY | CHRONIC GRANULOMATOUS-DISEASE | COMMON VARIABLE IMMUNODEFICIENCY | GENETIC-VARIANTS | IMMUNOLOGY | MISSENSE MUTATIONS | IMMUNE DYSREGULATION | ALLERGY | SEQUENCE | GERMLINE MUTATIONS | Genomics | Humans | Middle Aged | Child, Preschool | Infant | Male | DNA Copy Number Variations | Young Adult | Adolescent | Immunologic Deficiency Syndromes - genetics | Adult | Female | Aged | High-Throughput Nucleotide Sequencing | Child | Immunological deficiency syndromes | Mutation | Laboratories | Genes | Colleges & universities | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia
by Crestani, Elena, MD and Volpi, Stefano, MD and Candotti, Fabio, MD and Giliani, Silvia, PhD and Notarangelo, Lucia Dora, MD and Chu, Julia, MD and Aldave Becerra, Juan Carlos, MD and Buchbinder, David, MD and Chou, Janet, MD and Geha, Raif S., MD and Kanariou, Maria, MD and King, Alejandra, MD and Mazza, Cinzia, PhD and Moratto, Daniele, PhD and Sokolic, Robert, MD and Garabedian, Elizabeth, RN, MSLS and Porta, Fulvio, MD and Putti, Maria Caterina, MD and Wakim, Rima H., MD and Tsitsikov, Erdyni, PhD and Pai, Sung-Yun, MD and Notarangelo, Luigi D., MD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 5, pp. 1401 - 1404.e3
(d) "Angelo Nocivelli" Institute for Molecular Medicine, University of Brescia, Brescia, Italy 
Allergy and Immunology | HUMANS | CELLS | IMMUNOLOGY | ALLERGY | AUTOIMMUNITY | SYNDROME PROTEIN-DEFICIENCY | Antibody Diversity | Wiskott-Aldrich Syndrome - immunology | Autoantibodies - blood | Humans | Middle Aged | Thrombocytopenia - immunology | Child, Preschool | Infant | Male | Epitopes | Wiskott-Aldrich Syndrome - genetics | Thrombocytopenia - genetics | Young Adult | Genetic Diseases, X-Linked - immunology | Autoantibodies - immunology | Autoantigens - immunology | Adolescent | Quality of Life | Adult | Female | Genetic Diseases, X-Linked - genetics | Wiskott-Aldrich Syndrome Protein Family - genetics | Child | Autoimmunity | Neurosciences | Autoantibodies | Genomics | Children | Ophthalmology | Health aspects | Inflammatory bowel disease | Antigens | Immunoglobulins | Software | Autoimmune diseases | Laboratories
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
by Toubiana, J and Okada, S and Hiller, J and Oleastro, M and Lagos Gomez, M and Aldave Becerra, J.C and Ouachee-Chardin, M and Fouyssac, F and Girisha, K.M and Etzioni, A and Montfrans, J. van and Camcioglu, Y and Kerns, L.A and Belohradsky, B and Blanche, S and Bousfiha, A and Roiguez-Gallego, C and Meyts, I and Kisand, K and Reichenbach, J and Renner, E.D and Rosenzweig, S and Grimbacher, B and Veerdonk, F.L. van de and Traidl-Hoffmann, C and Picard, C and Marodi, L and Morio, T and Kobayashi, M and Lilic, D and Milner, J.D and Holland, S and Casanova, J.L and Puel, A and STAT1 Gain Function Study Grp and International STAT1 Gain-of-Function Study Group
Blood, ISSN 0006-4971, 2016, Volume 127, Issue 25, pp. 3154 - 3164
Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF)... 
HYPER-IGE SYNDROME | PROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY | FUNCTION SIGNAL TRANSDUCER | AUTOSOMAL-DOMINANT GAIN | IL-17 IMMUNITY | EX-VIVO | HEMATOLOGY | CHRONIC MUCOCUTANEOUS CANDIDIASIS | HOMOZYGOUS CARD9 MUTATION | T-CELLS | INBORN-ERRORS | Genetic Predisposition to Disease | Genetic Association Studies | Candidiasis, Chronic Mucocutaneous - genetics | Humans | Middle Aged | Child, Preschool | Infant | Male | STAT1 Transcription Factor - genetics | Young Adult | Phenotype | Adolescent | Adult | Female | Heterozygote | Aged | Mutation | Child | Cohort Studies | 100 | Clinical Trials and Observations
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text Broad spectrum of autoantibodies in Wiskott-Aldrich Syndrome (WAS) and X-linked Thrombocytopenia (XLT)
by Crestani, Elena and Volpi, Stefano and Candotti, Fabio and Giliani, Silvia and Notarangelo, Lucia Dora and Chu, Julia and Becerra, Juan Carlos Aldave and Buchbinder, David and Chou, Janet and Geha, Raif S and Kanariou, Maria and King, Alejandra and Mazza, Cinzia and Moratto, Daniele and Sokolic, Robert and Garabedian, Elizabeth and Porta, Fulvio and Putti, Maria Caterina and Wakim, Rima H and Tsitsikov, Erdyni and Pai, Sung-Yun and Notarangelo, Luigi D
The Journal of allergy and clinical immunology, ISSN 0091-6749, 11/2015, Volume 136, Issue 5, pp. 1401 - 1404.e3
Using a protein microarray, a broad spectrum of autoantibodies were demonstrated in patients with either Wiskott-Aldrich syndrome (WAS) or with X-linked... 
Wiskott-Aldrich syndrome | X-linked thrombocytopenia | BAFF | autoantibodies
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations
by Leiding, Jennifer W and Okada, Satoshi and Hagin, David and Abinun, Mario and Shcherbina, Anna and Balashov, Dmitry N and Kim, Vy H.D and Ovadia, Adi and Guthery, Stephen L and Pulsipher, Michael and Lilic, Desa and Devlin, Lisa A and Christie, Sharon and Depner, Mark and Fuchs, Sebastian and van Royen-Kerkhof, Annet and Lindemans, Caroline and Petrovic, Aleksandra and Sullivan, Kathleen E and Bunin, Nancy and Kilic, Sara Sebnem and Arpaci, Fikret and Calle-Martin, Oscar de la and Martinez-Martinez, Laura and Aldave, Juan Carlos and Kobayashi, Masao and Ohkawa, Teppei and Imai, Kohsuke and Iguchi, Akihiro and Roifman, Chaim M and Gennery, Andrew R and Slatter, Mary and Ochs, Hans D and Morio, Tomohiro and Torgerson, Troy R and Inborn Errors Working Party and European Soc Blood Marrow and Primary Immune Deficiency and Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the Primary Immune Deficiency Treatment Consortium
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 02/2018, Volume 141, Issue 2, pp. 704 - 717.e5
Gain-of-function (GOF) mutations in signal transducer and activator of transcription 1 (STAT1) cause susceptibility to a range of infections, autoimmunity,... 
graft rejection | gain of function | Janus kinase | hemophagocytic lymphohistiocytosis | chronic mucocutaneous candidiasis | signal transducer and activator of transcription | Hematopoietic stem cell transplantation | graft-versus-host disease | FUNCTION STAT1 MUTATIONS | BONE-MARROW-TRANSPLANTATION | IMMUNOLOGY | DEFICIENCY | RUXOLITINIB | RESPONSES | COMBINED IMMUNODEFICIENCY | ALLERGY | UNDERLIE | CLINICAL PHENOTYPE | Graft-versus-host reaction | Phosphorylation | Transplants & implants | Transcription | Stem cell transplantation | Infections | Transplantation | Kinases | Grafting | Hematopoietic stem cells | Genotype & phenotype | Bone marrow | Stat1 protein | Deoxyribonucleic acid--DNA | Bacterial infections | Cytokines | Complications | Cloning | Immunodeficiency | Histiocytosis | Patients | Survival | Hemopoiesis | Rejection | Human subjects | Survival analysis | Grafts | Mutagenesis | Plasmids | Stem cells | Data collection | Mutation | Autoimmune diseases | Lymphocytosis
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.