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1. Full Text Impaired NK cell functions in patients with STAT1 gain-of-function mutations
by Tabellini, Giovanna, PhD and Vairo, Donatella, PhD and Scomodon, Omar, PhD and Tamassia, Nicola, PhD and Ferraro, Rosalba Monica, PhD and Patrizi, Ornella, PhD and Gasperini, Sara, PhD and Soresina, Annarosa, MD and Giardino, Giuliana, MD and Pignata, Claudio, MD and Lougaris, Vassilios, MD and Plebani, Alessandro, MD and Dotta, Laura, MD and Cassatella, Marco A., MD and Parolini, Silvia, PhD and Badolato, Raffaele, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2017
Abstract Background Gain-of-function (GOF) mutations affecting the coiled-coil domain or the DNA-binding domain of the Signal Transducer and Activator of... 
Allergy and Immunology
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2. Full Text Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome
by Woellner, Cristina, MSc and Gertz, E. Michael, PhD and Schäffer, Alejandro A., PhD and Lagos, Macarena, MD and Perro, Mario, MSc and Glocker, Erik-Oliver, MD and Pietrogrande, Maria C., MD and Cossu, Fausto, MD and Franco, José L., MD, PhD and Matamoros, Nuria, MD and Pietrucha, Barbara, MD, PhD and Heropolitańska-Pliszka, Edyta, MD and Yeganeh, Mehdi, MD and Moin, Mostafa, MD and Español, Teresa, MD, PhD and Ehl, Stephan, MD and Gennery, Andrew R., MD and Abinun, Mario, MD, PhD and Bręborowicz, Anna, MD and Niehues, Tim, MD and Kilic, Sara Sebnem, MD and Junker, Anne, MD and Turvey, Stuart E., MD, PhD and Plebani, Alessandro, MD and Sánchez, Berta, PhD and Garty, Ben-Zion, MD and Pignata, Claudio, MD and Cancrini, Caterina, MD and Litzman, Jiri, MD and Sanal, Özden, MD and Baumann, Ulrich, MD and Bacchetta, Rosa, MD and Hsu, Amy P., BA and Davis, Joie N., CRNP and Hammarström, Lennart, MD and Davies, E. Graham, MD and Eren, Efrem, MD and Arkwright, Peter D., MD, PhD and Moilanen, Jukka S., MD, PhD and Viemann, Dorothee, MD and Khan, Sujoy, MRCP and Maródi, László, MD and Cant, Andrew J., MD and Freeman, Alexandra F., MD and Puck, Jennifer M., MD and Holland, Steven M., MD and Grimbacher, Bodo, MD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2010, Volume 125, Issue 2, pp. 424 - 432.e8
Background The hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by infections of the lung and skin, elevated serum IgE, and involvement of... 
Allergy and Immunology | STAT3 mutations | Hyper-IgE syndrome | diagnostic guidelines | T H17 cells | HIES | Job syndrome | CELLS | ALLERGY | HOST-DEFENSE | IMMUNOLOGY | T(H)17 cells | Job Syndrome - immunology | Job Syndrome - genetics | Enzyme-Linked Immunosorbent Assay | Job Syndrome - diagnosis | Cell Separation | Humans | Middle Aged | Interleukin-17 - immunology | Child, Preschool | Infant | Male | Immunoglobulin E - blood | Young Adult | Flow Cytometry | T-Lymphocytes, Helper-Inducer - immunology | Adolescent | Polymerase Chain Reaction | Adult | Female | Mutation | Child | STAT3 Transcription Factor - genetics | Practice Guidelines as Topic | Allergy | Medical colleges | Asthma in children | Immunodeficiency | Immunoglobulin E | Bone marrow | Transplantation | Diagnosis | Children | Gene therapy | Health aspects | Allergic reaction | Signal transduction | Cell culture | Genotype & phenotype | Pneumonia | Hypotheses | Fractures | Cytokines | Patients | Age | Deoxyribonucleic acid--DNA
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3. Full Text Clinical Features and Follow-Up in Patients with 22q11.2 Deletion Syndrome
by Cancrini, Caterina, MD, PhD and Puliafito, Pamela, MD and Digilio, Maria Cristina, MD and Soresina, Annarosa, MD and Martino, Silvana, MD and Rondelli, Roberto, MD and Consolini, Rita, MD and Ruga, Ezia Maria, MD and Cardinale, Fabio, MD and Finocchi, Andrea, MD, PhD and Romiti, Maria Luisa, BSc, PhD and Martire, Baldassarre, MD and Bacchetta, Rosa, MD and Albano, Veronica, MD and Carotti, Adriano, MD and Specchia, Fernando, MD and Montin, Davide, MD and Cirillo, Emilia, MD and Cocchi, Guido, MD and Trizzino, Antonino, MD and Bossi, Grazia, MD and Milanesi, Ornella, MD and Azzari, Chiara, MD, PhD and Corsello, Giovanni, MD and Pignata, Claudio, MD, PhD and Aiuti, Alessandro, MD, PhD and Pietrogrande, Maria Cristina, MD and Marino, Bruno, MD and Ugazio, Alberto Giovanni, MD and Plebani, Alessandro, MD, PhD and Rossi, Paolo, MD, PhD and Italian Network Primary and Italian Network for Primary Immunodeficiencies
Journal of Pediatrics, The, ISSN 0022-3476, 2014, Volume 164, Issue 6, pp. 1475 - 1480.e2
Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural... 
Pediatrics | MICRODELETION | CHROMOSOME | CHRONIC ARTHRITIS | VELOCARDIOFACIAL SYNDROME | PEDIATRICS | SPECTRUM | CONGENITAL HEART-DEFECTS | DEFICIENCY | CARDIO-FACIAL SYNDROME | CHILDREN | MOSAICISM | Genetic Testing | Prospective Studies | Age Factors | Follow-Up Studies | Humans | Child, Preschool | Infant | Male | Young Adult | Chromosomes, Human, Pair 22 - genetics | Time Factors | Abnormalities, Multiple - epidemiology | Adult | Female | Retrospective Studies | Child | Developmental Disabilities - diagnosis | DiGeorge Syndrome - genetics | Infant, Newborn | Severity of Illness Index | DiGeorge Syndrome - therapy | Risk Assessment | Delayed Diagnosis | Disease Progression | Developmental Disabilities - epidemiology | DiGeorge Syndrome - diagnosis | Abnormalities, Multiple - diagnosis | Adolescent | Sex Factors | Monitoring, Physiologic - methods | Early Diagnosis | Children's hospitals | Medical genetics
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4. Full Text Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis
by Giardino, Giuliana, MD and Gallo, Vera, MD and Somma, Domenico, PhD and Farrow, Emily G., PhD and Thiffault, Isabelle, PhD and D'Assante, Roberta, PhD and Donofrio, Vittoria, MD and Paciolla, Mariateresa, PhD and Ursini, Matilde Valeria, PhD and Leonardi, Antonio, MD, PhD and Saunders, Carol J., PhD and Pignata, Claudio, MD, PhD
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
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5. Full Text High-content cytometry and transcriptomic biomarker profiling of human B-cell activation
by Hennig, Christian, MD and Ilginus, Claudia and Boztug, Kaan, MD and Skokowa, Julia, PhD and Marodi, Laszlo, MD and Szaflarska, Anna, MD and Sass, Mareike and Pignata, Claudio, MD and Kilic, Sara Sebnem, MD and Caragol, Isabel, MD and Baumann, Ulrich, MD and Klein, Christoph, MD and Welte, Karl, MD and Hansen, Gesine, MD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 133, Issue 1, pp. 172 - 180.e10
Background Primary antibody deficiencies represent the most prevalent, although very heterogeneous, group of inborn immunodeficiencies, with a puzzling... 
Allergy and Immunology | primary antibody deficiency | chip cytometry | B-cell immunology | Primary immunodeficiency | HYPER-IGM SYNDROME | COMMON VARIABLE IMMUNODEFICIENCY | IMMUNOLOGY | DEFICIENCY | GENE | ALLERGY | PATHWAY | DISEASE | MUTATIONS | AUTOSOMAL RECESSIVE FORM | ATAXIA-TELANGIECTASIA | EXPRESSION | Humans | Image Cytometry | Middle Aged | RNA, Messenger - analysis | Male | Gene Expression Profiling | Transcriptome - immunology | Young Adult | Lymphocyte Activation - genetics | Microarray Analysis | Adult | Female | Cell Differentiation | Immunologic Deficiency Syndromes - diagnosis | Immunologic Deficiency Syndromes - immunology | Child | Immunoglobulin Class Switching | Infant, Newborn | Biomarkers - metabolism | Cells, Cultured | Chemokine CXCL9 - genetics | B-Lymphocytes - immunology | High-Throughput Screening Assays | Chemokine CXCL10 - genetics | Chemokine CXCL9 - metabolism | Adolescent | Chemokine CXCL10 - metabolism | Medical colleges | Immunodeficiency | Bacterial infections | Disease | Biomarkers | Infections | Patients | DNA repair | Immune system | Defects
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6. Full Text Recommendations regarding splenectomy in hereditary hemolytic anemias
by Iolascon, Achille and Andolfo, Immacolata and Barcellini, Wilma and Corcione, Francesco and Garçon, Loïc and De Franceschi, Lucia and Pignata, Claudio and Graziadei, Giovanna and Pospisilova, Dagmar and Rees, David C and de Montalembert, Mariane and Rivella, Stefano and Gambale, Antonella and Russo, Roberta and Ribeiro, Leticia and Jules-Vives-Corrons, Jules-Vives-Corrons and Martinez, Patricia Aguilar and Kattamis, Antonis and Gulbis, Beatrice and Cappellini, Maria Domenica and Roberts, Irene and Tamary, Hannah and Working Study Grp Red Cells and Working Study Group on Red Cells and Iron of the EHA
Haematologica, ISSN 0390-6078, 07/2017, Volume 102, Issue 8, pp. 1304 - 1313
Hereditary hemolytic anemias are a group of disorders with a variety of causes, including red cell membrane defects, red blood cell enzyme disorders,... 
CONGENITAL DYSERYTHROPOIETIC ANEMIAS | PULMONARY-HYPERTENSION | LONG-TERM OBSERVATION | BONE-MARROW-TRANSPLANTATION | SPLENIC VEIN-THROMBOSIS | PYRIMIDINE 5'-NUCLEOTIDASE DEFICIENCY | AMINO-ACID SUBSTITUTIONS | PYRUVATE-KINASE DEFICIENCY | SICKLE-CELL-DISEASE | HEMATOLOGY | LAPAROSCOPIC SPLENECTOMY | Guidelines as Topic - standards | Splenectomy - standards | Thrombosis - etiology | Humans | Anemia, Hemolytic, Congenital - surgery | Splenectomy - adverse effects | Splenectomy - methods | Guideline
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7. Full Text Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
by Bosticardo, Marita and Yamazaki, Yasuhiro and Cowan, Jennifer and Giardino, Giuliana and Corsino, Cristina and Scalia, Giulia and Prencipe, Rosaria and Ruffner, Melanie and Hill, David A and Sakovich, Inga and Yemialyanava, Irma and Tam, Jonathan S and Padem, Nurcicek and Elder, Melissa E and Sleasman, John W and Perez, Elena and Niebur, Hana and Seroogy, Christine M and Sharapova, Svetlana and Gebbia, Jennifer and Kleiner, Gary Ira and Peake, Jane and Abbott, Jordan K and Gelfand, Erwin W and Crestani, Elena and Biggs, Catherine and Butte, Manish J and Hartog, Nicholas and Hayward, Anthony and Chen, Karin and Heimall, Jennifer and Seeborg, Filiz and Bartnikas, Lisa M and Cooper, Megan A and Pignata, Claudio and Bhandoola, Avinash and Notarangelo, Luigi D
The American Journal of Human Genetics, ISSN 0002-9297, 09/2019, Volume 105, Issue 3, pp. 549 - 561
is the master regulatory gene of thymic epithelium development. FOXN1 deficiency leads to thymic aplasia, alopecia, and nail dystrophy, accounting for the... 
T lymphocytes | thymus | thymopoiesis | FOXN1 | SCID | newborn screening | T cell receptor excision circles | THYMUS | MUTATION | EXPANSION | MOUSE | GENETICS & HEREDITY | PHENOTYPE | C-KIT | NUDE | IMMUNODEFICIENCY | DEFICIENCY | ALOPECIA | Antigen receptors, T cell | Receptors | Physiological aspects | Genetic aspects | Research | T cells | Thymus
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8. Full Text FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches
by Gallo, Vera and Cirillo, Emilia and Giardino, Giuliana and Pignata, Claudio
Journal of Clinical Immunology, ISSN 0271-9142, 11/2017, Volume 37, Issue 8, pp. 751 - 758
Since the discovery of FOXN1 deficiency, the human counterpart of the nude mouse, a growing body of evidence investigating the role of FOXN1 in thymus and... 
Nude SCID phenotype | T cell development | Medical Microbiology | Biomedicine | Immunology | Thymus transplantation | Severe combined immunodeficiency | Athymia | Infectious Diseases | Internal Medicine | Nude mouse | FOXN1 | NUDE-MICE | PROTEIN-KINASE-C | HAIR FOLLICLE | MOUSE | 22Q11.2 DELETION SYNDROME | IMMUNOLOGY | TRANSPLANTATION | THYMIC EPITHELIAL-CELLS | MUTATION | TERMINAL DIFFERENTIATION | T-CELL DEVELOPMENT | Hair Follicle - physiology | T-Lymphocytes - physiology | Thymus Gland - physiology | Epigenetic Repression | Skin - metabolism | Humans | Nails - pathology | Severe Combined Immunodeficiency - genetics | Phenotype | Alopecia | Animals | Forkhead Transcription Factors - metabolism | Mice, Nude | Cell Differentiation | Mice | Genetic Diseases, X-Linked | Forkhead Transcription Factors - deficiency | Skin | Genetic disorders | T cells | Cell differentiation | Health aspects | Immunodeficiency | Molecular modelling | Keratinocytes | Homeostasis | Lymphocytes T | Dystrophy | Immune system | Thymus
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9. Full Text Otolaryngological features in a cohort of patients affected with 22q11.2 deletion syndrome: A monocentric survey
by Grasso, Fiorentino and Cirillo, Emilia and Quaremba, Giuseppe and Graziano, Vincenzo and Gallo, Vera and Cruoglio, Letizia and Botta, Carmine and Pignata, Claudio and Motta, Sergio
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2018, Volume 176, Issue 10, pp. 2128 - 2134
Otorhinolaryngologic manifestations are common in 22q11.2 deletion syndrome (22q11.2DS), but poorly described. This study aimed to better define the... 
22q11.2 deletion syndrome | DiGeorge syndrome | ENT phenotype | MICRODELETION | VELOPHARYNGEAL INSUFFICIENCY | SIZE | GENETICS & HEREDITY | VELOCARDIOFACIAL SYNDROME | CLINICAL-FEATURES | PREVALENCE | AUDIOLOGICAL FINDINGS | CHILDREN | Surveys | Medicine, Experimental | Medical research | Health aspects | Speech therapy | Adenoid | Phenotypes | Statistical analysis | Tonsil | Swallowing | Pharynx | Hearing loss | Respiratory tract | Clonal deletion | Surgery | Nose | Regurgitation | Palate | Hypertrophy
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10. Full Text Lentiviral gene therapy corrects platelet phenotype and function in patients with Wiskott-Aldrich syndrome
by Sereni, Lucia and Castiello, Maria Carmina and Di Silvestre, Dario and Della Valle, Patrizia and Brombin, Chiara and Ferrua, Francesca and Cicalese, Maria Pia and Pozzi, Loris and Migliavacca, Maddalena and Bernardo, Maria Ester and Pignata, Claudio and Farah, Roula and Notarangelo, Lucia Dora and Marcus, Nufar and Cattaneo, Lorella and Spinelli, Marco and Giannelli, Stefania and Bosticardo, Marita and van Rossem, Koen and D'Angelo, Armando and Aiuti, Alessandro and Mauri, Pierluigi and Villa, Anna
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
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11. Full Text Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects
by Cirillo, Emilia and Giardino, Giuliana and Gallo, Vera and Puliafito, Pamela and Azzari, Chiara and Bacchetta, Rosa and Cardinale, Fabio and Cicalese, Maria P and Consolini, Rita and Martino, Silvana and Martire, Baldassarre and Molinatto, Cristina and Plebani, Alessandro and Scarano, Gioacchino and Soresina, Annarosa and Cancrini, Caterina and Rossi, Paolo and Digilio, Maria C and Pignata, Claudio
BMC Medical Genetics, ISSN 1471-2350, 01/2014, Volume 15, Issue 1, pp. 1 - 1
Background: 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximately 1: 4000 births. Familial autosomal dominant... 
22q11.2 deletion syndrome | Phenotypic variability | DiGeorge syndrome | Immunodeficiency | DIGEORGE-SYNDROME | CHROMOSOME 22Q11 | LOW-COPY REPEATS | DIGEORGE/VELOCARDIOFACIAL SYNDROME | DISCORDANT PHENOTYPE | CLINICAL-FEATURES | GENETICS & HEREDITY | SUBCLINICAL HYPOTHYROIDISM | VELOCARDIOFACIAL SYNDROME | CONGENITAL HEART-DEFECTS | CARDIO-FACIAL SYNDROME | Chromosome Deletion | Chromosomes, Human, Pair 22 - genetics | Phenotype | Pedigree | Humans | Adult | Female | Male | DiGeorge Syndrome - genetics | Cohort Studies | Genetic disorders | Analysis | Eye diseases | Genetic aspects | Congenital heart disease | Chromosome deletion | Pediatrics | Genotype & phenotype | Parents & parenting | Language disorders | Colleges & universities | Families & family life | Genetics | Chromosomes | Defects
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12. Full Text Abnormal cell-clearance and accumulation of autophagic vesicles in lymphocytes from patients affected with Ataxia-Teleangiectasia
by D’Assante, Roberta and Fusco, Anna and Palamaro, Loredana and Polishchuk, Elena and Polishchuk, Roman and Bianchino, Gabriella and Grieco, Vitina and Prencipe, Maria Rosaria and Ballabio, Andrea and Pignata, Claudio
Clinical Immunology, ISSN 1521-6616, 2016, Volume 175, pp. 16 - 25
Abstract Ataxia-Teleangiectasia (A-T) is a neurodegenerative disorder due to mutations in ATM gene. ATM in the nucleus ensures DNA repair, while its role in... 
Allergy and Immunology | Cell-clearance | Autophagosomes | Ataxia-Teleangiectasia | Autophagosome-lysosome fusion | Autophagy | SURVIVAL | TELANGIECTASIA | COMPLEX | SYMPTOMS | IMMUNOLOGY | LYSOSOMAL BIOGENESIS | MONITORING AUTOPHAGY | DEGRADATION | ATM | BETAMETHASONE | IMMUNODEFICIENCY | Biomarkers - metabolism | Lymphocytes - metabolism | Lysosomes - drug effects | Leukocytes, Mononuclear - metabolism | Leukocytes, Mononuclear - drug effects | Neurodegenerative Diseases - pathology | TOR Serine-Threonine Kinases - metabolism | Humans | Cells, Cultured | Autophagy - physiology | Neurodegenerative Diseases - metabolism | Neurodegenerative Diseases - drug therapy | Autophagy - drug effects | Leukocytes, Mononuclear - pathology | Lymphocytes - pathology | Lysosomes - metabolism | Lymphocytes - drug effects | Ataxia - drug therapy | Lysosomes - pathology | Betamethasone - therapeutic use | Ataxia - metabolism | Sequestosome-1 Protein - metabolism | Ataxia - pathology | Ataxia | Nervous system diseases | Betamethasone | Lymphocytes | Analysis | Corticosteroids | T cells
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13. Full Text Altered regulatory mechanisms governing cell survival in children affected with clustering of autoimmune disorders
by Palamaro, Loredana and Giardino, Giuliana and Santamaria, Francesca and Ramenghi, Ugo and Dianzani, Umberto and Pignata, Claudio
Italian Journal of Pediatrics, ISSN 1720-8424, 2012, Volume 38, Issue 1, pp. 42 - 42
Clustering of Autoimmune Diseases (CAD) is now emerging as a novel clinical entity within monogenic immune defects with a high familial occurrence. Aim of this... 
ALPS | Fas | Clustering of autoimmune diseases | Apoptosis | CANDIDIASIS-ECTODERMAL DYSTROPHY | DISEASES | PEDIATRICS | DEATH | T-CELL | PRIMARY IMMUNODEFICIENCY | Autoimmune Diseases - genetics | fas Receptor - immunology | Apoptosis - immunology | Humans | Autoimmune Diseases - immunology | fas Receptor - genetics | Cell Survival - genetics | Apoptosis - genetics | Immunophenotyping | T-Lymphocytes - immunology | Cell Survival - immunology | Child | Proteins | Autoimmune diseases | Cell cycle | Children & youth
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14. Full Text Hyper IgM syndrome presenting as chronic suppurative lung disease
by Montella, Silvia and Maglione, Marco and Giardino, Giuliana and Di Giorgio, Angela and Palamaro, Loredana and Mirra, Virginia and Ursini, Matilde Valeria and Salerno, Mariacarolina and Pignata, Claudio and Caffarelli, Carlo and Santamaria, Francesca
Italian Journal of Pediatrics, ISSN 1720-8424, 2012, Volume 38, Issue 1, pp. 45 - 45
The Hyper-immunoglobulin M syndromes (HIGM) are a heterogeneous group of genetic disorders resulting in defects of immunoglobulin class switch recombination.... 
PRIMARY CILIARY DYSKINESIA | DEFECTS | TOXOPLASMOSIS | BRONCHIECTASIS | X-LINKED IMMUNODEFICIENCY | CD40 LIGAND | PEDIATRICS | CLASS-SWITCH RECOMBINATION | PROGRESSION | NEMO/IKK-GAMMA GENE | CHILDREN | Diagnosis, Differential | Hyper-IgM Immunodeficiency Syndrome - therapy | Humans | Tomography, X-Ray Computed | Combined Modality Therapy | Bronchiectasis - therapy | Bronchiectasis - diagnosis | Bronchiectasis - immunology | Suppuration | Hyper-IgM Immunodeficiency Syndrome - diagnosis | Flow Cytometry | Hyper-IgM Immunodeficiency Syndrome - immunology | Female | Child | Chronic Disease | Immunoglobulin M | Chest | Memory cells | Recombination | CD40 antigen | Immunoglobulin G | Lung diseases | Immunodeficiency | X chromosome | Activation-induced cytidine deaminase | Immunoglobulin E | Opportunist infection | Immunoglobulin A | imaging | Class switching | NF- Kappa B protein | Lymphocytes B | Uracil-DNA glycosidase | Mutation
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