X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (9) 9
index medicus (8) 8
female (7) 7
male (7) 7
child (6) 6
immunology (6) 6
pediatrics (6) 6
immunodeficiency (5) 5
child, preschool (4) 4
infant (4) 4
infectious diseases (4) 4
patients (4) 4
adolescent (3) 3
cells (3) 3
childrens health (3) 3
cystic fibrosis - microbiology (3) 3
immunologic deficiency syndromes - genetics (3) 3
infection (3) 3
respiratory system (3) 3
abridged index medicus (2) 2
activation (2) 2
adenitis (2) 2
anti-bacterial agents - therapeutic use (2) 2
antibiotics (2) 2
aphthous stomatitis (2) 2
biomedicine (2) 2
biopsy (2) 2
bronchiectasis (2) 2
children (2) 2
chronic mucocutaneous candidiasis (2) 2
colchicine (2) 2
corticoids (2) 2
diagnosis (2) 2
disease (2) 2
fever (2) 2
foot-and-mouth disease (2) 2
genetic aspects (2) 2
hematopoietic stem cell transplantation (2) 2
immunologic deficiency syndromes - therapy (2) 2
inflammation (2) 2
interleukin 1 receptor antagonist (2) 2
internal medicine (2) 2
lymphadenopathy (2) 2
lymphocytes t (2) 2
medical microbiology (2) 2
mutation (2) 2
pharyngitis (2) 2
phosphoinositide 3-kinase delta (2) 2
phosphoinositide 3-kinase inhibitor (2) 2
phosphoinositide 3-kinase δ (2) 2
pik3cd gene (2) 2
responses (2) 2
sputum - microbiology (2) 2
staphylococcus aureus - isolation & purification (2) 2
stat1 protein (2) 2
stomatitis (2) 2
underlie (2) 2
1-phosphatidylinositol 3-kinase (1) 1
100 (1) 1
[sdv.imm]life sciences [q-bio]/immunology (1) 1
activated phosphoinositide 3-kinase $\delta$ syndrome (1) 1
activated phosphoinositide 3-kinase delta syndrome (1) 1
activated phosphoinositide 3-kinase δ syndrome (1) 1
activated phosphoinositide 3-kinase δ syndrome, pik3cd gene, bronchiectasis, hematopoietic stem cell transplantation, immunodeficiency, p110δ-activating mutation causing senescent t cells, lymphadenopathy, and immunodeficiency, phosphoinositide 3-kinase inhibitor, phosphoinositide 3-kinase δ (1) 1
activated pi3kdelta syndrome (1) 1
adult (1) 1
age (1) 1
airway infection (1) 1
airway management (1) 1
allergy (1) 1
allergy and immunology (1) 1
alpha-interferon (1) 1
amino acid substitution (1) 1
amyloid (1) 1
analysis (1) 1
angioedemas, hereditary - diagnosis (1) 1
angioedemas, hereditary - drug therapy (1) 1
animals (1) 1
anti-bacterial agents - classification (1) 1
antibiotic prophylaxis (1) 1
antigen presentation - genetics (1) 1
antigen presentation - immunology (1) 1
apds, activated phosphoinositide-3 kinase δ syndrome (1) 1
article subject (1) 1
autoimmune diseases (1) 1
autoimmunity (1) 1
autoinflammation (1) 1
b-cell (1) 1
bacterial infections (1) 1
bacterial proteins - genetics (1) 1
balf, bronchoalveolar lavage fluid (1) 1
basic medicine (1) 1
bcg vaccine - adverse effects (1) 1
beta (1) 1
biofilm (1) 1
biofilms - drug effects (1) 1
biofilms - growth & development (1) 1
biological response modifiers (1) 1
biomarkers - analysis (1) 1
c1-inh (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Archives of Disease in Childhood, ISSN 0003-9888, 06/2019, Volume 104, Issue Suppl 3, p. A306
We report the case of a 15 year old girl with a four month history of gradual onset dysphonia and dysphagia. Endoscopy revealed a significantly enlarged... 
Journal Article
by Coulter, Tanya I., MRCPI and Chandra, Anita, PhD, FRCPath and Bacon, Chris M., PhD, FRCPath and Babar, Judith, MRCP, FRCR and Curtis, James, PhD and Screaton, Nick, FRCP, FRCR and Goodlad, John R., MD, FRCPath and Farmer, George, MD and Steele, Cathal Laurence, MB and Leahy, Timothy Ronan, MRCPI and Doffinger, Rainer, PhD, FRCPath and Baxendale, Helen, PhD, FRCPath and Bernatoniene, Jolanta, PhD and Edgar, J. David M., FRCP, FRCPath and Longhurst, Hilary J., PhD, FRCPath and Ehl, Stephan, MD, PhD and Speckmann, Carsten, MD and Grimbacher, Bodo, MD, PhD and Sediva, Anna, MD, PhD and Milota, Tomas, MD and Faust, Saul N., PhD, FRCPCH and Williams, Anthony P., PhD, FRCPath and Hayman, Grant, FRCP, FRCPath and Kucuk, Zeynep Yesim, MD and Hague, Rosie, MRCP, FRCPH and French, Paul, MD, MRCS, DipFMS, FRCPath and Brooker, Richard, FRCPCH and Forsyth, Peter, FRCPath and Herriot, Richard, FRCP, FRCPath and Cancrini, Caterina, MD, PhD and Palma, Paolo, MD, PhD and Ariganello, Paola, MD and Conlon, Niall, PhD, FRCPath and Feighery, Conleth, PhD, FRCPath and Gavin, Patrick J., MD and Jones, Alison, PhD, FRCPCH and Imai, Kohsuke, MD, PhD and Ibrahim, Mohammad A.A., PhD, FRCP, FRCPath and Markelj, Gašper, MD and Abinun, Mario, MD, PhD and Rieux-Laucat, Frédéric, PhD and Latour, Sylvain, PhD and Pellier, Isabelle, MD, PhD and Fischer, Alain, MD, PhD and Touzot, Fabien, MD, PhD and Casanova, Jean-Laurent, MD, PhD and Durandy, Anne, MD, PhD and Burns, Siobhan O., MD, PhD and Savic, Sinisa, PhD, FRCPath and Kumararatne, D.S., FRCPath, DPhil (Oxon) and Moshous, Despina, MD, PhD and Kracker, Sven, PhD and Vanhaesebroeck, Bart, PhD, FMedSci and Okkenhaug, Klaus, PhD and Picard, Capucine, MD, PhD and Nejentsev, Sergey, MD, PhD and Condliffe, Alison M., PhD, FRCP and Cant, Andrew James, MD, FRCP, FRCPH
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 2, pp. 597 - 606.e4
Background Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently described combined immunodeficiency resulting from gain-of-function mutations in... 
Allergy and Immunology | Activated phosphoinositide 3-kinase δ syndrome | hematopoietic stem cell transplantation | phosphoinositide 3-kinase δ | immunodeficiency | phosphoinositide 3-kinase inhibitor | PIK3CD gene | bronchiectasis | p110δ-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency | Recurrence | Humans | Middle Aged | Child, Preschool | Infant | Male | Antibiotic Prophylaxis | Class I Phosphatidylinositol 3-Kinases/antagonists & inhibitors | Young Adult | Immunoglobulins, Intravenous/therapeutic use | Enzyme Inhibitors/therapeutic use | Lymphoproliferative Disorders/genetics | Adult | Female | Surveys and Questionnaires | Child | Respiratory Tract Infections/genetics | Mutation/genetics | Hematopoietic Stem Cell Transplantation | International Cooperation | Herpesviridae Infections/genetics | Animals | Adolescent | Survival Analysis | Mice | Immunologic Deficiency Syndromes/genetics | Cohort Studies | Activated phosphoinositide 3-kinase delta syndrome | IMMUNOLOGICAL FEATURES | HYPER-IGM SYNDROME | p110 delta-activating mutation causing senescent T cells | hematopoietic stem cell | COMMON VARIABLE IMMUNODEFICIENCY | PIK3CD | IMMUNOLOGY | lymphadenopathy | REFERENCE VALUES | P110-DELTA | phosphoinositide 3-kinase delta | P110 DELTA | B-CELL | ALLERGY | transplantation | MUTATIONS | Class I Phosphatidylinositol 3-Kinases - genetics | Herpesviridae Infections - mortality | Respiratory Tract Infections - genetics | Lymphoproliferative Disorders - therapy | Respiratory Tract Infections - mortality | Respiratory Tract Infections - therapy | Immunologic Deficiency Syndromes - mortality | Herpesviridae Infections - genetics | Immunologic Deficiency Syndromes - therapy | Lymphoproliferative Disorders - genetics | Mutation - genetics | Class I Phosphatidylinositol 3-Kinases - antagonists & inhibitors | Enzyme Inhibitors - therapeutic use | Lymphoproliferative Disorders - mortality | Herpesviridae Infections - therapy | Immunoglobulins, Intravenous - therapeutic use | Immunologic Deficiency Syndromes - genetics | Immune Deficiencies, Infection, and Systemic Immune Disorders | HSCT, Hematopoietic stem cell transplantation | BALF, Bronchoalveolar lavage fluid | CT, Computed tomography | APDS, Activated phosphoinositide-3 kinase δ syndrome | GOF, Gain of function | PI3K, Phosphoinositide 3-kinase | HSV, Herpes simplex virus | CMV, Cytomegalovirus | OR, Odds ratio | PPV, Pneumococcal polysaccharide vaccine | CNS, Central nervous system
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 06/2019, Volume 104, Issue Suppl 3, p. A305
IntroductionAuto-inflammatory syndromes (AIS) are inherited disorders of the innate immune system that lead to pathogenic inflammation. Multiple organ systems... 
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 06/2019, Volume 104, Issue Suppl 3, p. A109
IntroductionPeriodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is the most common autoinflammatory disorder in childhood,... 
Journal Article
Pediatric Dermatology, ISSN 0736-8046, 09/2017, Volume 34, Issue 5, pp. e277 - e278
A healthy 5‐year‐old boy presented to the emergency department with an acute genital swelling. He had no relevant family history. His presentation and blood... 
C1-INH | PEDIATRICS | HEREDITARY ANGIOEDEMA | PENILE | DERMATOLOGY | Complement C1 Inhibitor Protein - analysis | Edema - etiology | Diagnosis, Differential | Genitalia - pathology | Humans | Angioedemas, Hereditary - diagnosis | Child, Preschool | Male | Angioedemas, Hereditary - drug therapy | Tranexamic Acid - therapeutic use | Enzymes | Hydrolases | Esterase
Journal Article
European Journal of Immunology, ISSN 0014-2980, 05/2019, Volume 49, Issue 5, pp. 790 - 800
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 8/2018, Volume 38, Issue 6, pp. 635 - 637
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s10875-018-0536-5 
Medical Microbiology | Infectious Diseases | Internal Medicine | Biomedicine | Immunology | CHRONIC MUCOCUTANEOUS CANDIDIASIS | UNDERLIE | IMMUNOLOGY | Genetic aspects | Hospitals | Communicable diseases | Immunodeficiency | Stat1 protein
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 7/2016, Volume 36, Issue 5, pp. 418 - 419
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s10875-016-0286-1 
Medical Microbiology | Infectious Diseases | Internal Medicine | Biomedicine | Immunology | IMMUNOLOGY | Gene Duplication | Phenotype | Humans | Immunologic Deficiency Syndromes - genetics | Female | Child | DiGeorge Syndrome - genetics | Immunodeficiency
Journal Article
BLOOD, ISSN 0006-4971, 09/2014, Volume 124, Issue 12, pp. 1894 - 1904
Journal Article
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 09/2015, Volume 100, Issue 9, pp. 891 - 891
Journal Article
Blood, ISSN 0006-4971, 09/2014, Volume 124, Issue 12, pp. 1894 - 1904
Key Points IRF8K108E mutation causes dendritic cell depletion, defective antigen presentation, and anergic T cells. IRF8K108E mutant protein is functionally... 
100 | Immunobiology
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 02/2017, Volume 139, Issue 2, p. 597
Activated phosphoinositide 3-kinase [delta] syndrome (APDS) is a recently described combined immunodeficiency resulting from gain-of-function mutations in... 
Medicine, Experimental | Medical research | Encephalitis | Cytomegalovirus | Pneumonia | Immunoglobulins | Lymphatic system | Bacterial infections | Laboratories | Ear diseases | Cytotoxicity | Hearing impairment | Patients | Streptococcus infections | Biopsy | Lymphomas | Mutation | Age | Viral infections
Journal Article
Journal Article
ISSN 0091-6749, 2016
Journal Article
Canadian Journal of Infectious Diseases and Medical Microbiology, ISSN 1712-9532, 2012, Volume 23, Issue 3, pp. 137 - 139
A three-year-old boy presented with community-acquired pneumonia complicated by empyema.Streptococcus pyogenes(group A streptococcus) was identified on culture... 
Journal Article