X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (119) 119
index medicus (83) 83
female (65) 65
immunology (58) 58
male (58) 58
child (53) 53
adolescent (46) 46
pediatrics (37) 37
child, preschool (34) 34
mutation (33) 33
adult (30) 30
immunodeficiency (28) 28
phenotype (24) 24
children (23) 23
infant (22) 22
genetic aspects (19) 19
diseases (18) 18
middle aged (18) 18
t-lymphocytes - immunology (18) 18
young adult (18) 18
animals (17) 17
diagnosis (16) 16
severe combined immunodeficiency (16) 16
gene (15) 15
mutations (15) 15
patients (15) 15
autoimmunity (14) 14
disease (14) 14
hematology (14) 14
analysis (13) 13
genetics & heredity (13) 13
mice (13) 13
signal transduction (13) 13
follow-up studies (12) 12
health aspects (12) 12
infant, newborn (12) 12
severe combined immunodeficiency - genetics (12) 12
abridged index medicus (11) 11
allergy and immunology (11) 11
case report (11) 11
phosphorylation (11) 11
t cells (11) 11
thymus (11) 11
age (10) 10
allergy (10) 10
digeorge syndrome (10) 10
lymphocytes (10) 10
mouse (10) 10
severe combined immunodeficiency - immunology (10) 10
22q11.2 deletion syndrome (9) 9
activation (9) 9
expression (9) 9
immunophenotyping (9) 9
infections (9) 9
proteins (9) 9
t-cells (9) 9
therapy (9) 9
alopecia (8) 8
chronic mucocutaneous candidiasis (8) 8
defects (8) 8
deficiency (8) 8
endocrinology & metabolism (8) 8
gene mutations (8) 8
immunologic diseases. allergy (8) 8
medical research (8) 8
primary immunodeficiencies (8) 8
primary immunodeficiency (8) 8
candidiasis-ectodermal dystrophy (7) 7
cells, cultured (7) 7
chronic disease (7) 7
cohort studies (7) 7
digeorge syndrome - genetics (7) 7
forkhead transcription factors - genetics (7) 7
foxn1 (7) 7
immunoglobulins (7) 7
internal medicine (7) 7
lymphocyte activation (7) 7
medicine, experimental (7) 7
mutation - genetics (7) 7
research (7) 7
thymus gland - immunology (7) 7
transcription factors - genetics (7) 7
aged (6) 6
apoptosis (6) 6
autoimmune diseases (6) 6
care and treatment (6) 6
case-control studies (6) 6
cell proliferation (6) 6
central tolerance (6) 6
chromosome deletion (6) 6
combined immune-deficiency (6) 6
common variable immunodeficiency (6) 6
cytokines (6) 6
diagnosis, differential (6) 6
dna-binding proteins - genetics (6) 6
flow cytometry (6) 6
genetic disorders (6) 6
genotype & phenotype (6) 6
heterozygote (6) 6
immune system (6) 6
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of Clinical Immunology, ISSN 0271-9142, 5/2007, Volume 27, Issue 3, pp. 308 - 316
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2010, Volume 125, Issue 2, pp. 424 - 432.e8
Journal Article
2015, ISBN 9782889197170
The pathogenic mechanisms underlying primary T-cell disorders are mainly related to molecular alterations of genes whose expression is intrinsic to... 
Central Tolerance | Rag defects | Combined immunodeficiency | DiGeorge Syndrome | Foxn1 | medullary thymic epithelial cells | APECED
eBook
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 137, Issue 5, pp. 1591 - 1595.e4
  First-level immunological examinations revealed normal IgG, IgM, and IgA levels, increased IgE levels (1190 IU/mL), normal levels of standard lymphocyte... 
Allergy and Immunology | Medical colleges | Lymphatic diseases | Cytomegalovirus | Edema | Immunoglobulins | Congenital diseases | Cytokines | Laboratories | Genes | Proteins | Parents & parenting | Acids | Plasmids | Fibroblasts | Age | Chronic illnesses | Neutropenia
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 08/2017, Volume 140, Issue 2, pp. 553 - 564.e4
Gain-of-function (GOF) mutations affecting the coiled-coil domain or the DNA-binding domain of signal transducer and activator of transcription 1 cause chronic... 
signal transducer and activator of transcription 5 | IL-15 | Natural killer cells | cytotoxic activity | signal transducer and activator of transcription 1 | candidiasis | PROLIFERATION | IMMUNOLOGY | CHRONIC MUCOCUTANEOUS CANDIDIASIS | DEFICIENCY | FUNGAL-INFECTIONS | HYPER-IGE SYNDROME | GENE | ALLERGY | UNDERLIE | IL-17 IMMUNITY | CYTOTOXICITY | PRIMARY IMMUNODEFICIENCY | Gene Expression | Phosphorylation | Candidiasis, Chronic Mucocutaneous - genetics | Humans | Middle Aged | Candidiasis, Chronic Mucocutaneous - immunology | Male | STAT1 Transcription Factor - genetics | STAT5 Transcription Factor - metabolism | STAT1 Transcription Factor - metabolism | Adolescent | Killer Cells, Natural - immunology | Adult | Female | Killer Cells, Natural - drug effects | Killer Cells, Natural - metabolism | Mutation | Child | Cytokines - pharmacology | Medical colleges | Care and treatment | Killer cells | Bacterial infections | Mycoses | Genetic aspects | Genetic transcription | Analysis | Cell proliferation | Pathogenesis | Helper cells | Cytotoxicity | Stimulation | Infections | Activation | Lymphocytes T | Kinases | Proteins | Fungi | α-Interferon | Interleukin 2 | Lymphocytes | Bacteria | Stat1 protein | Deoxyribonucleic acid--DNA | Binding | Pathogens | Interleukin 2 receptors | Cytokines | Chronic mucocutaneous candidiasis | Functional analysis | Stat5 protein | Interleukin 15 | Patients | Studies | γ-Interferon | Degranulation | Interferon | Viral infections
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 133, Issue 1, pp. 172 - 180.e10
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 09/2019, Volume 144, Issue 3, pp. 825 - 838
Thrombocytopenia is a serious issue for all patients with classical Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT) because it causes severe... 
Wiskott-Aldrich syndrome | X-linked thrombocytopenia | gene therapy | platelets | CLEARANCE | CD40 LIGAND | CELL TRANSPLANTATION | SYNDROME PROTEIN | NEUTROPHILS | SPLENECTOMY | IMMUNOLOGY | ACTIVATED PLATELETS | ALLERGY | MUTATIONS | EXPRESSION | Genetic research | Care and treatment | Genetic aspects | Gene therapy | Analysis | Flow cytometry | Pediatrics | Transplants & implants | Medical services | Clinical trials | Agglomeration | Coexistence | Bleeding | Defects | Proteins | Genotype & phenotype | Signal transduction | Protein composition | Restoration | Blood platelets | Ultrastructure | Thrombocytopenia | Phenotypes | Immune reconstitution | Electron microscopy | Patients | Microscopy | Protein expression | Software | Mutation | Platelets | FERMT3, Fermitin family homolog 3 | TEM, Transmission electron microscopy | WAS, Wiskott-Aldrich syndrome | HMGB1, High-mobility group box 1 | δ-g, Electron-dense granule | GPX1, Glutathione peroxidase 1 | FU, Follow-up | sCD62P, Soluble P-selectin | sCD40L, Soluble CD40 ligand | BAFF, B cell–activating factor | CD62P, P-selectin | HSCT, Hematopoietic stem cell transplantation | WASp, Wiskott-Aldrich syndrome protein | MFI, Mean fluorescence intensity | LV, Lentivirus | CT, Closure time | GT, Gene therapy | OCS, Open canalicular system | PRP, Platelet-rich plasma | vWF, von Willebrand factor | STAT3, Signal transducer and activator of transcription 3 | HD, Healthy donor | ADP, Adenosine diphosphate | ROS, Reactive oxygen species | XLT, X-linked thrombocytopenia
Journal Article
Clinical Genetics, ISSN 0009-9163, 08/2019, Volume 96, Issue 2, pp. 169 - 175
Heterozygous missense variants in the SPTBN2 gene, encoding the non‐erythrocytic beta spectrin 2 subunit (beta‐III spectrin), have been identified in autosomal... 
SCA5 | congenital ataxia | SCAR14 | spinocerebellar ataxia | beta‐III spectrin | SPTBN2 | beta-III spectrin | DOMAIN | GENETICS & HEREDITY | ITPR1 | MUTATIONS | FAMILY | DELETION | Nervous system diseases | Genetic disorders | Cerebellar ataxia | Membrane proteins | Spectrin | Cerebellum | Phenotypes | Neurodegenerative diseases | Spinocerebellar ataxia | Ataxia | Genetic testing
Journal Article