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allergy and immunology (8) 8
life sciences & biomedicine (8) 8
science & technology (8) 8
humans (7) 7
immunology (7) 7
abridged index medicus (6) 6
allergy (6) 6
child (5) 5
biological and medical sciences (4) 4
child, preschool (4) 4
female (4) 4
fundamental and applied biological sciences. psychology (4) 4
fundamental immunology (4) 4
hematopoietic stem cell transplantation (4) 4
immunopathology (4) 4
infant (4) 4
medical sciences (4) 4
mutation (4) 4
sarcoidosis. granulomatous diseases of unproved etiology. connective tissue diseases. elastic tissue diseases. vasculitis (4) 4
adult (3) 3
b-lymphocytes - immunology (3) 3
children's hospitals (3) 3
genetic aspects (3) 3
immunodeficiency (3) 3
male (3) 3
patients (3) 3
severe combined immunodeficiency - genetics (3) 3
transplantation (3) 3
adolescent (2) 2
agammaglobulinemia - genetics (2) 2
agammaglobulinemia - immunology (2) 2
age (2) 2
analysis (2) 2
b-lymphocytes - metabolism (2) 2
bone marrow (2) 2
genetic research (2) 2
genotype & phenotype (2) 2
hematopoietic stem cells (2) 2
homeodomain proteins - genetics (2) 2
immune system (2) 2
immunodeficiencies (2) 2
immunodeficiencies. immunoglobulinopathies (2) 2
immunologic deficiency syndromes - therapy (2) 2
infant, newborn (2) 2
infections (2) 2
lymphocytes (2) 2
pediatrics (2) 2
phenotype (2) 2
protein expression (2) 2
proteins (2) 2
severe combined immunodeficiency - immunology (2) 2
skin (2) 2
stem cells (2) 2
t cells (2) 2
t-lymphocytes - immunology (2) 2
t-lymphocytes - metabolism (2) 2
transplantation, homologous (2) 2
young adult (2) 2
5′ untranslated region mutation (1) 1
abnormalities, multiple (1) 1
abnormalities, multiple - diagnosis (1) 1
abnormalities, multiple - epidemiology (1) 1
activated phosphoinositide 3-kinase δ syndrome (1) 1
ada-scid (1) 1
adenosine (1) 1
adenosine deaminase - deficiency (1) 1
adenosine deaminase - genetics (1) 1
adenosine deaminase - immunology (1) 1
agammaglobulinemia (1) 1
agammaglobulinemia - therapy (1) 1
age factors (1) 1
alleles (1) 1
animals (1) 1
antibiotic prophylaxis (1) 1
apds, activated phosphoinositide-3 kinase δ syndrome (1) 1
autoimmunity (1) 1
b cells (1) 1
b-lymphocytes (1) 1
balf, bronchoalveolar lavage fluid (1) 1
biopsy (1) 1
blood (1) 1
bone marrow transplantation (1) 1
bronchiectasis (1) 1
canonical nf-κb pathway (1) 1
care and treatment (1) 1
case-control studies (1) 1
cell cycle (1) 1
cellular senescence - genetics (1) 1
children (1) 1
children & youth (1) 1
chromosomes, human, pair 22 (1) 1
chromosomes, human, pair 22 - genetics (1) 1
class i phosphatidylinositol 3-kinases - antagonists & inhibitors (1) 1
class i phosphatidylinositol 3-kinases - genetics (1) 1
class i phosphatidylinositol 3-kinases/antagonists & inhibitors (1) 1
cmv, cytomegalovirus (1) 1
cns, central nervous system (1) 1
cohort studies (1) 1
common variable immunodeficiency - genetics (1) 1
common variable immunodeficiency - immunology (1) 1
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1. Full Text Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study
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, ISSN 0091-6749, 2016, Volume 139, Issue 2, pp. 597 - 606.e4
Allergy and Immunology | 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 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 | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | 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 | Index Medicus | Abridged Index Medicus | 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
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2. Full Text A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency
by Lee, Yu Nee, PhD and Frugoni, Francesco, PhD and Dobbs, Kerry, BS and Walter, Jolan E., MD, PhD and Giliani, Silvia, PhD and Gennery, Andrew R., MD and Al-Herz, Waleed, MD and Haddad, Elie, MD, PhD and LeDeist, Francoise, MD, PhD and Bleesing, Jack H., MD, PhD and Henderson, Lauren A., MD and Pai, Sung-Yun, MD and Nelson, Robert P., MD and El-Ghoneimy, Dalia H., MD and El-Feky, Reem A., MD and Reda, Shereen M., MD, PhD and Hossny, Elham, MD, PhD and Soler-Palacin, Pere, MD and Fuleihan, Ramsay L., MD and Patel, Niraj C., MD and Massaad, Michel J., PhD and Geha, Raif S., MD and Puck, Jennifer M., MD and Palma, Paolo, MD and Cancrini, Caterina, MD and Chen, Karin, MD and Vihinen, Mauno, PhD and Alt, Frederick W., PhD and Notarangelo, Luigi D., MD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2013, Volume 133, Issue 4, pp. 1099 - 1108.e12
Allergy and Immunology | immune repertoire | autoimmunity | V(D)J recombination | genotype-phenotype correlation | Recombination-activating gene 1 | severe combined immune deficiency | Omenn syndrome | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Fundamental immunology | Immunopathology | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Biological and medical sciences | Medical sciences | Immunodeficiencies. Immunoglobulinopathies | Immunodeficiencies | Genetic Association Studies | Homeodomain Proteins - metabolism | Humans | V(D)J Recombination | Child, Preschool | Infant | Severe Combined Immunodeficiency - immunology | Homeodomain Proteins - genetics | Severe Combined Immunodeficiency - genetics | Phenotype | B-Lymphocytes - immunology | T-Lymphocytes - metabolism | Gene Rearrangement | Alleles | Severe Combined Immunodeficiency - metabolism | T-Lymphocytes - immunology | Mutation | Child | Gene Order | B-Lymphocytes - metabolism | Immunoglobulin Heavy Chains - genetics | Infant, Newborn | Proteins | Autoimmunity | Analysis | Children's hospitals | Genes | Immunodeficiency | Genetic research | Genetic aspects | T cells | Genotype & phenotype | Lymphocytes | Protein expression | Patients | Index Medicus | Abridged Index Medicus
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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 for Primary Immunodeficiencies (IPINet) and Italian Network Primary and Italian Network for Primary Immunodeficiencies
The Journal of pediatrics, ISSN 0022-3476, 2014, Volume 164, Issue 6, pp. 1475 - 1480.e2
Pediatrics | Life Sciences & Biomedicine | Science & Technology | 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 | Index Medicus | Abridged Index Medicus
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4. Full Text Combined immunodeficiency due to JAK3 mutation in a child presenting with skin granuloma
by Scarselli, Alessia, MD and Di Cesare, Silvia, BSc and Di Matteo, Gigliola, BSc, PhD and De Matteis, Arianna, MD and Ariganello, Paola, MD and Romiti, Maria Luisa, BSc, PhD and Cascioli, Simona, BSc and De Vito, Rita, MD and Bertaina, Alice, MD, PhD and Locatelli, Franco, MD, PhD and Gaspar, H. Bobby, MD, PhD and Aiuti, Alessandro, MD, PhD and Rossi, Paolo, MD, PhD and Gilmour, Kimberly, MD, PhD and Cancrini, Caterina, MD, PhD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2015, Volume 137, Issue 3, pp. 948 - 951.e5
Allergy and Immunology | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Diagnosis, Differential | Gene Expression | Severe Combined Immunodeficiency - diagnosis | Humans | Child, Preschool | Immunophenotyping | Severe Combined Immunodeficiency - genetics | Skin Diseases - diagnosis | B-Lymphocytes - immunology | T-Lymphocytes - metabolism | Biopsy | Janus Kinase 3 - genetics | Female | T-Lymphocytes - immunology | Mutation | Granuloma - diagnosis | Janus Kinase 3 - metabolism | B-Lymphocytes - metabolism | Genetic aspects | Skin | Children | Health aspects | Children's hospitals | Immunodeficiency | Phosphorylation | Immunoglobulins | Diarrhea | T cell receptors | Infections | Genomes | Patients | DNA repair | Blood | Proteins | Lymphocytes | Protein expression | Tetanus | Age | Deoxyribonucleic acid--DNA | Index Medicus | Abridged Index Medicus
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5. Full Text Early-onset monocyte–B–natural killer–dendritic cells’ deficiency successfully treated with hematopoietic stem cell transplantation
by Cancrini, Caterina, MD, PhD and Scarselli, Alessia, MD and Scaramuzza, Samantha, BSc, PhD and Chiriaco, Maria, BSc, PhD and Di Cesare, Silvia, BSc and Di Matteo, Gigliola, BSc, PhD and Romiti, Maria Luisa, BSc, PhD and Palma, Paolo, MD, PhD and De Felice, Lidia, BSc and Palumbo, Giuseppe, MD, PhD and Pinto, Rita Maria, MD and De Vito, Rita, MD and Racioppi, Luigi, MD, PhD and Livadiotti, Susanna, MD and Fischer, Alain, MD, PhD and Rossi, Paolo, MD, PhD and Caniglia, Maurizio, MD and Aiuti, Alessandro, MD, PhD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2011, Volume 128, Issue 4, pp. 897 - 900.e1
Allergy and Immunology | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Fundamental immunology | Immunopathology | Biological and medical sciences | Medical sciences | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Immunologic Deficiency Syndromes - pathology | Immunologic Deficiency Syndromes - therapy | Monocytes | Dendritic Cells | Killer Cells, Natural | Humans | B-Lymphocytes | Hematopoietic Stem Cell Transplantation | Female | Infant | Transplantation, Homologous | Medical colleges | Transplantation | Hematopoietic stem cells | Stem cells | Rodents | Lung diseases | Bone marrow | Ligands | Infections | Mutation | Patients | Age | Immune system | Defects | Index Medicus | Abridged Index Medicus
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6. Full Text Immune deficiency caused by impaired expression of nuclear factor-κB essential modifier (NEMO) because of a mutation in the 5′ untranslated region of the NEMO gene
by Mooster, Jana L and Cancrini, Caterina, MD, PhD and Simonetti, Alessandra, MD and Rossi, Paolo, MD, PhD and Di Matteo, Gigliola, PhD and Romiti, Maria Luisa, PhD and Di Cesare, Silvia and Notarangelo, Luigi, MD and Geha, Raif S., MD and McDonald, Douglas R., MD, PhD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2010, Volume 126, Issue 1, pp. 127 - 132.e7
Allergy and Immunology | immune deficiency | recurrent infections | 5′ untranslated region mutation | NEMO | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Fundamental immunology | Immunopathology | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Biological and medical sciences | Medical sciences | Immunodeficiencies. Immunoglobulinopathies | Immunodeficiencies | Development | 5′ untranslated region mutation
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7. Full Text In vivo T-cell dynamics during immune reconstitution after hematopoietic stem cell gene therapy in adenosine deaminase severe combined immune deficiency
by Selleri, Silvia, PhD and Brigida, Immacolata, MSc and Casiraghi, Miriam, RCN and Scaramuzza, Samantha, PhD and Cappelli, Barbara, MD and Cassani, Barbara, PhD and Ferrua, Francesca, MD and Aker, Memet, MD and Slavin, Shimon, MD and Scarselli, Alessia, MD and Cancrini, Caterina, MD and Marktel, Sarah, MD and Grazia Roncarolo, Maria, MD and Aiuti, Alessandro, MD, PhD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2011, Volume 127, Issue 6, pp. 1368 - 1375.e8
Allergy and Immunology | senescence | immune reconstitution | ADA-SCID | Gene therapy | cell cycle | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Fundamental immunology | Immunopathology | Purines and pyrimidines (gout, hyperuricemia...) | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Other metabolic disorders | Biological and medical sciences | Metabolic diseases | Medical sciences | T-Lymphocyte Subsets - immunology | Agammaglobulinemia - immunology | Agammaglobulinemia - genetics | Humans | Transplantation, Autologous | Case-Control Studies | Transplantation, Homologous | Retroviridae - genetics | Bone Marrow Transplantation | Adult | Granulocytes - pathology | Adenosine Deaminase - deficiency | Child | Telomere - genetics | Cellular Senescence - genetics | Receptors, Antigen, T-Cell, gamma-delta - metabolism | Adenosine Deaminase - genetics | Agammaglobulinemia - therapy | Hematopoietic Stem Cell Transplantation | Severe Combined Immunodeficiency - therapy | Severe Combined Immunodeficiency - immunology | Severe Combined Immunodeficiency - genetics | T-Lymphocyte Subsets - pathology | Cell Cycle | Immunologic Memory | Adenosine Deaminase - immunology | Genetic Therapy - methods | Adenosine | Fluorescein | Bone marrow | Genetic research | Transplantation | T cells | Hematopoietic stem cells | Index Medicus | Abridged Index Medicus
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8. Full Text Severe disease and greater impairment of NF-κB activation in IκBa point mutants versus truncation mutants in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency
by Petersheim, Daniel, MD and Massaad, Michel J., PhD and Lee, Saetbyul, PhD and Scarselli, Alessia, MD and Cancrini, Caterina, MD and Moriya, Kunihiko, MD, PhD and Sasahara, Yoji, MD, PhD and Lankester, Arjan C., MD, PhD and Dorsey, Morna, MD and Di Giovanni, Daniela, MD and Bezrodnik, Liliana, MD and Ohnishi, Hidenori, MD, PhD and Nishikomori, Ryuta, MD and Tanita, Kay, MD and Kanegane, Hirokazu, MD, PhD and Morio, Tomohiro, MD and Gelfand, Erwin W., MD and Jain, Ashish, MD and Secord, Elizabeth, MD, PhD and Picard, Capucine, MD, PhD and Casanova, Jean-Laurent, MD, PhD and Albert, Michael H., MD and Torgerson, Troy R., MD, PhD and Geha, Raif S., MD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2017, Volume 141, Issue 3, pp. 1060 - 1073.e3
Allergy and Immunology | canonical NF-κB pathway | hematopoietic stem cell transplantation | non-canonical NF-κB pathway | ectodermal dysplasia with immune deficiency | lymphorganogenesis | IκBα
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9. Full Text Agammaglobulinemia associated to nasal polyposis due to a hypomorphic RAG1 mutation in a 12 years old boy
by Cifaldi, Cristina and Scarselli, Alessia and Petricone, Davide and Di Cesare, Silvia and Chiriaco, Maria and Claps, Alessia and Rossi, Paolo and Calzoni, Enrica and Yamazaki, Yasuhiro and Notarangelo, Luigi Daniele and Di Matteo, Gigliola and Cancrini, Caterina and Finocchi, Andrea, MD, PhD
Clinical immunology (Orlando, Fla.), ISSN 1521-6616, 2016, Volume 173, pp. 121 - 123
Allergy and Immunology | EBV viremia | Hypomorphic mutation | RAG1 | Humoral defect | Life Sciences & Biomedicine | Immunology | Science & Technology | Common Variable Immunodeficiency - immunology | Nasal Polyps - immunology | Agammaglobulinemia - immunology | Agammaglobulinemia - genetics | Humans | Common Variable Immunodeficiency - genetics | Male | Homeodomain Proteins - genetics | Phenotype | B-Lymphocytes - immunology | Nasal Polyps - genetics | Mutation | Child | Agammaglobulinemia | Genetic aspects | B cells
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10. Full Text Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency
by Dupuis-Girod, Sophie and Cancrini, Caterina and Le Deist, Francoise and Palma, Paolo and Bodemer, Christine and Puel, Anne and Livadiotti, Susanna and Picard, Capucine and Bossuyt, Xavier and Rossi, Paolo and Fischer, Alain and Casanova, Jean-Laurent
Pediatrics (Evanston), ISSN 0031-4005, 07/2006, Volume 118, Issue 1, p. 381
Care and treatment | Transplantation | Analysis | Risk factors | Stem cells | Ectodermal dysplasia | Pediatrics | Genotype & phenotype | Transplants & implants | Skin | Children & youth | Immune system
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