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by Marciano, Beatriz E., MD and Huang, Chiung-Yu, PhD and Joshi, Gyan, PhD and Rezaei, Nima, MD and Carvalho, Beatriz Costa, MD and Allwood, Zoe, MD and Ikinciogullari, Aydan, MD and Reda, Shereen M., MD and Gennery, Andrew, MD and Thon, Vojtech, MD and Espinosa-Rosales, Francisco, MD and Al-Herz, Waleed, MD and Porras, Oscar, MD and Shcherbina, Anna, MD and Szaflarska, Anna, MD and Kiliç, Şebnem, MD and Franco, Jose L., MD, PhD and Gómez Raccio, Andrea C., MD and Roxo, Persio, MD and Esteves, Isabel, MD and Galal, Nermeen, MD and Grumach, Anete Sevciovic, MD, PhD and Al-Tamemi, Salem, MD and Yildiran, Alisan, MD and Orellana, Julio C., MD and Yamada, Masafumi, MD and Morio, Tomohiro, MD and Liberatore, Diana, MD and Ohtsuka, Yoshitoshi, MD and Lau, Yu-Lung, MD and Nishikomori, Ryuta, MD and Torres-Lozano, Carlos, MD and Mazzucchelli, Juliana T.L., MD and Vilela, Maria M.S., MD and Tavares, Fabiola S., MD and Cunha, Luciana, MD and Pinto, Jorge A., MD and Espinosa-Padilla, Sara E., MD and Hernandez-Nieto, Leticia, MD and Elfeky, Reem A., MD and Ariga, Tadashi, MD and Toshio, Heike, MD and Dogu, Figen, MD and Cipe, Funda, MD and Formankova, Renata, MD and Nuñez-Nuñez, M. Enriqueta, MD and Bezrodnik, Liliana, MD and Marques, Jose Gonçalo, MD and Pereira, María I., PhD and Listello, Viviana, MD and Slatter, Mary A., MD and Nademi, Zohreh, MD and Kowalczyk, Danuta, MD and Fleisher, Thomas A., MD and Davies, Graham, MD and Neven, Bénédicte, MD and Rosenzweig, Sergio D., MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 133, Issue 4, pp. 1134 - 1141
Journal Article
by de la Morena, M. Teresa, MD and Leonard, David, PhD and Torgerson, Troy R., MD, PhD and Cabral-Marques, Otavio, PhD and Slatter, Mary, MD and Aghamohammadi, Asghar, MD and Chandra, Sharat, MD and Murguia-Favela, Luis, MD and Bonilla, Francisco A., MD, PhD and Kanariou, Maria, MD and Damrongwatanasuk, Rongras, MD and Kuo, Caroline Y., MD and Dvorak, Christopher C., MD and Meyts, Isabelle, MD and Chen, Karin, MD and Kobrynski, Lisa, MD, MPH and Kapoor, Neena, MD and Richter, Darko, MD and DiGiovanni, Daniela, MD and Dhalla, Fatima, MD and Farmaki, Evangelia, MD and Speckmann, Carsten, MD and Español, Teresa, MD and Shcherbina, Anna, MD and Hanson, Imelda Celine, MD and Litzman, Jiri, MD and Routes, John M., MD and Wong, Melanie, MD, PhD and Fuleihan, Ramsay, MD and Seneviratne, Suranjith L., MD and Small, Trudy N., MD and Janda, Ales, MD and Bezrodnik, Liliana, MD and Seger, Reinhard, MD and Raccio, Andrea Gomez, MD and Edgar, J. David M., MD and Chou, Janet, MD and Abbott, Jordan K., MD and van Montfrans, Joris, MD and González-Granado, Luis Ignacio, MD and Bunin, Nancy, MD and Kutukculer, Necil, MD and Gray, Paul, MD and Seminario, Gisela, MD and Pasic, Srdjan, MD and Aquino, Victor, MD and Wysocki, Christian, MD, PhD and Abolhassani, Hassan, MD and Dorsey, Morna, MD and Cunningham-Rundles, Charlotte, MD, PhD and Knutsen, Alan P., MD and Sleasman, John, MD and Costa Carvalho, Beatriz Tavares, MD and Condino-Neto, Antonio, MD and Grunebaum, Eyal, MD and Chapel, Helen, MD and Ochs, Hans D., MD, PhD and Filipovich, Alexandra, MD and Cowan, Mort, MD and Gennery, Andrew, MD and Cant, Andrew, MD and Notarangelo, Luigi D., MD and Roifman, Chaim M., MD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 4, pp. 1282 - 1292
Background X-linked hyper-IgM syndrome (XHIGM) is a primary immunodeficiency with high morbidity and mortality compared with those seen in healthy subjects.... 
Allergy and Immunology | hematopoietic cell transplantation | CD40 ligand | primary immunodeficiency | defects in class-switch recombination | long-term outcomes | X-linked hyper-IgM syndrome | Karnofsky/Lansky scores | CD40 LIGAND DEFICIENCY | BONE-MARROW-TRANSPLANTATION | CHRONIC GRANULOMATOUS-DISEASE | WISKOTT-ALDRICH-SYNDROME | CLINICAL-FEATURES | IMMUNOLOGY | CHILDREN | DEFECTIVE EXPRESSION | PRIMARY IMMUNODEFICIENCY DISEASES | ALLERGY | EUROPEAN EXPERIENCE | T-CELLS | Hyper-IgM Immunodeficiency Syndrome - therapy | Follow-Up Studies | Humans | Middle Aged | Kaplan-Meier Estimate | Proportional Hazards Models | Child, Preschool | Infant | Male | Time | Hematopoietic Stem Cell Transplantation - mortality | Young Adult | Hyper-IgM Immunodeficiency Syndrome - mortality | Adolescent | Adult | Female | Retrospective Studies | Child | Cohort Studies | Transplantation | Hematopoietic stem cells | Analysis | Therapy | Disease | Liver | Central nervous system | Nervous system | Antiinfectives and antibacterials | Blood | Risk factors | Antibody response | Neurodegeneration | Bone marrow | Genetics | Diagnosis | Conditioning | Neutropenia | Binding | Wiskott-Aldrich syndrome | Immunoglobulins | Liver diseases | Mortality | Agammaglobulinemia | BCG | Cholangitis | Hazards | Regression analysis | Survival | Bile duct | Studies | Stem cells | Accident prevention | Ligands | Mutation | Protocol (computers) | Bile | Immunoglobulin M | Pneumonia | Transplants & implants | Physicians | Immunoglobulin G | Medical services | Prophylaxis | Infections | Malignancy | Defects | Respiratory tract | Allografts | Bacteria | Children | Age | Medical personnel | Bacterial infections | Complications | Blood cells | Hypersensitivity | Switching | Morbidity | Computer programs | Lymphocytes B | Aplasia | Collaboration | Medical prognosis | Health hazards | Cancer | Lansky scores | Karnofsky
Journal Article
Pediatrics, ISSN 0031-4005, 09/2018, Volume 142, Issue 3, p. e20174250
BACKGROUND: The capsular group B meningococcal vaccine (4CMenB) is recommended for children with complement deficiencies, asplenia, and splenic dysfunction;... 
IMMUNIZATION | PERSISTENCE | TOLERABILITY | ADOLESCENTS | DISEASE | DEFICIENT | RISK | PEDIATRICS | ECULIZUMAB TREATMENT | BACTERICIDAL ANTIBODIES | AGE | Care and treatment | Children | Health aspects | Hearing disorders | Analysis
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 05/2018, Volume 378, Issue 20, pp. 1908 - 1919
Journal Article
Journal Article
Scientific reports, 04/2018, Volume 8, Issue 1, p. 6451
We performed a large genome-wide association study to discover genetic variation associated with muscular strength, and to evaluate shared genetic aetiology... 
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 02/2018, Volume 141, Issue 2, pp. 704 - 717.e5
Gain-of-function (GOF) mutations in signal transducer and activator of transcription 1 (STAT1) cause susceptibility to a range of infections, autoimmunity,... 
graft rejection | gain of function | Janus kinase | hemophagocytic lymphohistiocytosis | chronic mucocutaneous candidiasis | signal transducer and activator of transcription | Hematopoietic stem cell transplantation | graft-versus-host disease | FUNCTION STAT1 MUTATIONS | BONE-MARROW-TRANSPLANTATION | IMMUNOLOGY | DEFICIENCY | RUXOLITINIB | RESPONSES | COMBINED IMMUNODEFICIENCY | ALLERGY | UNDERLIE | CLINICAL PHENOTYPE | Genetic Predisposition to Disease | Humans | Risk Factors | Hematopoietic Stem Cell Transplantation | Male | Survival Rate | STAT1 Transcription Factor - genetics | Graft vs Host Disease - immunology | STAT1 Transcription Factor - immunology | Disease-Free Survival | Graft vs Host Disease - genetics | Allografts | Graft vs Host Disease - mortality | Female | Retrospective Studies | Gain of Function Mutation | Graft-versus-host reaction | Phosphorylation | Transplants & implants | Transcription | Stem cell transplantation | Infections | Transplantation | Kinases | Grafting | Hematopoietic stem cells | Genotype & phenotype | Bone marrow | Stat1 protein | Deoxyribonucleic acid--DNA | Bacterial infections | Cytokines | Data acquisition | Complications | Cloning | Immunodeficiency | Histiocytosis | Patients | Survival | Hemopoiesis | Rejection | Human subjects | Survival analysis | Grafts | Mutagenesis | Plasmids | Stem cells | Data collection | Mutation | Autoimmune diseases | Lymphocytosis
Journal Article
Journal Article
British Journal of Haematology, ISSN 0007-1048, 02/2010, Volume 148, Issue 3, pp. 416 - 427
Summary The most consistent feature of Wiskott Aldrich syndrome (WAS) is profound thrombocytopenia with small platelets. The responsible gene encodes WAS... 
platelet disorder | Wiskott–Aldrich syndrome | integrins | fibrin clot retraction | phosphatidylserine exposure | Wiskott-Aldrich syndrome | Fibrin clot retraction | Platelet disorder | Integrins | Phosphatidylserine exposure
Journal Article
The Journal of Immunology, ISSN 0022-1767, 05/1997, Volume 158, Issue 9, pp. 4021 - 4025
The Wiskott-Aldrich syndrome (WAS) arises from defects of the X-chromosome gene WASP. Severe platelet defects, thrombocytopenia with small platelets, are a... 
CDC42 | GENE | GTPASES | RAC | K NI IMMUNOLOGY | MUTATIONS | IMMUNOLOGY | IDENTIFICATION | X-LINKED THROMBOCYTOPENIA | LYMPHOCYTES | Cell Line | Gene Expression | Humans | RNA, Messenger - genetics | Child, Preschool | Infant | Male | Point Mutation | Proteins - metabolism | Wiskott-Aldrich Syndrome Protein | Adolescent | Adult | Child | B-Lymphocytes - metabolism | Wiskott-Aldrich Syndrome - metabolism
Journal Article
British Journal of Haematology, ISSN 0007-1048, 05/2003, Volume 121, Issue 3, p. 529
Journal Article
Molecular and Cellular Endocrinology, ISSN 0303-7207, 05/2017, Volume 447, Issue C, pp. 52 - 60
Journal Article