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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
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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, 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 | 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 | Recurrence | Class I Phosphatidylinositol 3-Kinases - genetics | Herpesviridae Infections - mortality | Humans | Middle Aged | Child, Preschool | Infant | Male | Antibiotic Prophylaxis | Respiratory Tract Infections - genetics | Lymphoproliferative Disorders - therapy | Young Adult | Respiratory Tract Infections - mortality | Respiratory Tract Infections - therapy | Immunologic Deficiency Syndromes - mortality | Adult | Female | Surveys and Questionnaires | Herpesviridae Infections - genetics | Child | Immunologic Deficiency Syndromes - therapy | Hematopoietic Stem Cell Transplantation | International Cooperation | Lymphoproliferative Disorders - genetics | Mutation - genetics | Class I Phosphatidylinositol 3-Kinases - antagonists & inhibitors | Enzyme Inhibitors - therapeutic use | Lymphoproliferative Disorders - mortality | Animals | Herpesviridae Infections - therapy | Immunoglobulins, Intravenous - therapeutic use | Adolescent | Survival Analysis | Immunologic Deficiency Syndromes - genetics | Mice | Cohort Studies | 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 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
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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 A prospective study on the natural history of patients with profound combined immunodeficiency (P-CID): an interim analysis
by Speckmann, Carsten, MD and Doerken, Sam, M.Sc and Aiuti, Alessandro, MD and Albert, Michael H., MD and Al-Herz, Waleed, MD and Allende, Luis M., PhD and Scarselli, Allessia, MD and Avcin, Tadej, MD and Perez-Becker, Ruy, MD and Cancrini, Caterina, MD, PhD and Cant, Andrew, MD, PhD and Di Cesare, Silvia, BSc and Finocchi, Andrea, MD and Fischer, Alain, MD, PhD and Gaspar, H. Bobby, MD, PhD and Ghosh, Sujal, MD and Gennery, Andrew, MD and Gilmour, Kimberly, PhD and González-Granado, Luis I., MD and Martinez-Gallo, Monica, PhD and Hambleton, Sophie, MD, PhD and Hauck, Fabian, MD, PhD and Hoenig, Manfred, MD and Moshous, Despina, MD PhD and Neven, Benedicte, MD and Niehues, Tim, MD and Notarangelo, Luigi, MD and Picard, Capucine, MD, PhD and Rieber, Nikolaus, MD and Schulz, Ansgar, MD and Schwarz, Klaus, MD and Seidel, Markus G., MD and Soler-Palacin, Pere, MD and Stepensky, Polina, MD and Strahm, Brigitte, MD and Vraetz, Thomas, MD and Warnatz, Klaus, MD and Winterhalter, Christine and Worth, Austen, MD and Fuchs, Sebastian, PhD and Uhlmann, Annette, Dr. rer. nat and Ehl, Stephan, MD and P-CID Study Inborn Errors Working and P-CID study of the Inborn Errors Working Party of the EBMT
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 4, pp. 1302 - 1310.e4
Abstract Background Absent T cell immunity resulting in life-threatening infections provides a clear rationale for hematopoetic stem cell transplantation... 
Allergy and Immunology | hematopoietic stem cell transplantation | T-cell deficiency | natural history | combined immunodeficiency | ALLERGY | IMMUNOLOGY | DIAGNOSTIC-CRITERIA | SELECTION | DEFICIENCY | FEATURES | Prospective Studies | Humans | Child, Preschool | Hematopoietic Stem Cell Transplantation | Severe Combined Immunodeficiency - therapy | Infant | Male | Severe Combined Immunodeficiency - immunology | Adolescent | Female | Severe Combined Immunodeficiency - pathology | Child | Research Design | Autoimmunity | Medical research | Immunogenetics | Analysis | Stem cells | Immunodeficiency | Medicine, Experimental | Transplantation | T cells | Immune response | Parameters | Transplants & implants | Disease | Mortality | Infections | T cell receptors | Lymphocytes T | Medical screening | Kinases | Decision analysis | Immunity | Consortia | Proteins | Lymphocytes | Medical prognosis | Mutation | Diagnosis | Immune system
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5. 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, The, ISSN 0091-6749, 2015, Volume 137, Issue 3, pp. 948 - 951.e5
  The R403H mutation is present in the Catalogue of Somatic Mutations In Cancer database and was found to be associated with severe combined immunodeficiency... 
Allergy and Immunology | DEFECTS | INTERFERON-GAMMA | ALLERGY | RECURRENT | TAIWAN | SUSCEPTIBILITY | DISEASE | NONTUBERCULOUS MYCOBACTERIAL INFECTIONS | PATIENT | IMMUNOLOGY | IFN-GAMMA AUTOANTIBODIES | MANIFESTATIONS | 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 | Immunology | Lymphocytes | Protein expression | Tetanus | Age | Deoxyribonucleic acid--DNA
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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, The, ISSN 0091-6749, 2010, Volume 126, Issue 1, pp. 127 - 132.e7
Background Nuclear factor-κB (NF-κB) is a key transcription factor that regulates both innate and adaptive immunity as well as ectodermal development.... 
Allergy and Immunology | immune deficiency | recurrent infections | 5′ untranslated region mutation | NEMO | SYSTEM | INHERITED DISORDERS | HUMAN-DISEASE | 5 ' untranslated region mutation | IMMUNOLOGY | ESSENTIAL MODULATOR MUTATION | RESPONSES | ALLERGY | ECTODERMAL DYSPLASIA | IMMUNODEFICIENCY | Development | 5′ untranslated region mutation
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7. 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, The, ISSN 0091-6749, 2011, Volume 128, Issue 4, pp. 897 - 900.e1
  [...]she developed septicemia and severe lung infections poorly responsive to antimicrobial therapy with the deterioration of respiratory functions and... 
Allergy and Immunology | ALLERGY | LINEAGE | IMMUNOLOGY | 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
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8. 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, The, ISSN 0091-6749, 2013, Volume 133, Issue 4, pp. 1099 - 1108.e12
Background The recombination-activating gene (RAG) 1/2 proteins play a critical role in the development of T and B cells by initiating the VDJ recombination... 
Allergy and Immunology | immune repertoire | autoimmunity | V(D)J recombination | genotype-phenotype correlation | Recombination-activating gene 1 | severe combined immune deficiency | Omenn syndrome | REPERTOIRE | RAG MUTATIONS | DEFECTS | COMBINED IMMUNE-DEFICIENCY | LENGTH | IMMUNOLOGY | B-CELL | ALLERGY | DISEASE | SPECTRUM | IMMUNODEFICIENCY | REVEALS | 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
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9. 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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10. 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, The, ISSN 0091-6749, 2017, Volume 141, Issue 3, pp. 1060 - 1073.e3
Abstract Background Autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency (AD EDA-ID) is caused by heterozygous point mutations at or close... 
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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11. 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, The, ISSN 0091-6749, 2011, Volume 127, Issue 6, pp. 1368 - 1375.e8
Background Gene therapy (GT) with hematopoietic stem cells is a promising treatment for inherited immunodeficiencies. Objectives Limited information is... 
Allergy and Immunology | senescence | immune reconstitution | ADA-SCID | Gene therapy | cell cycle | SEVERE COMBINED IMMUNODEFICIENCY | BONE-MARROW | SUBSETS | PERIPHERAL-BLOOD | IMMUNOLOGY | MATURATION | RECIPIENTS | TRANSPLANTATION | THYMIC OUTPUT | ALLERGY | RECEPTOR EXCISION CIRCLE | LYMPHOCYTES | 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
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