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Autoimmunity Reviews, ISSN 1568-9972, 08/2018, Volume 17, Issue 8, pp. 842 - 843
Journal Article
European Annals of Allergy and Clinical Immunology, ISSN 1764-1489, 09/2017, Volume 49, Issue 5, pp. 235 - 239
To report the successful use of sirolimus for management of enteropathy in four patients with LPS-responsive beige-like anchor protein (LRBA) deficiency. Case... 
Autoimmunity | LRBA deficiency | Enteropathy | Sirolimus | Common variable immune deficiency
Journal Article
Current Opinion in Immunology, ISSN 0952-7915, 12/2017, Volume 49, pp. 14 - 19
CTLA-4 is a crucial negative regulator of immune responses. Absence of CTLA-4 in mice causes autoimmunity and lethal multiorgan lymphocytic infiltration and... 
IMMUNE DYSREGULATION | RESPONSES | ACTIVATION | REGULATORY T-CELLS | LRBA DEFICIENCY | PATIENT | GUT MICROBIOTA | MUTATIONS | IMMUNOLOGY | FOLLICULAR HELPER | CANCER-THERAPY | Autoimmunity | Microbiota (Symbiotic organisms) | T cells | Immunotherapy
Journal Article
by Schwab, Charlotte and Gabrysch, Annemarie and Olbrich, Peter and Patiño, Virginia and Warnatz, Klaus and Wolff, Daniel and Hoshino, Akihiro and Kobayashi, Masao and Imai, Kohsuke and Takagi, Masatoshi and Dybedal, Ingunn and Haddock, Jamanda A and Sansom, David M and Lucena, Jose M and Seidl, Maximilian and Schmitt-Graeff, Annette and Reiser, Veronika and Emmerich, Florian and Frede, Natalie and Bulashevska, Alla and Salzer, Ulrich and Schubert, Desirée and Hayakawa, Seiichi and Okada, Satoshi and Kanariou, Maria and Kucuk, Zeynep Yesim and Chapdelaine, Hugo and Petruzelkova, Lenka and Sumnik, Zdenek and Sediva, Anna and Slatter, Mary and Arkwright, Peter D and Cant, Andrew and Lorenz, Hanns-Martin and Giese, Thomas and Lougaris, Vassilios and Plebani, Alessandro and Price, Christina and Sullivan, Kathleen E and Moutschen, Michel and Litzman, Jiri and Freiberger, Tomas and van de Veerdonk, Frank L and Recher, Mike and Albert, Michael H and Hauck, Fabian and Seneviratne, Suranjith and Pachlopnik Schmid, Jana and Kolios, Antonios and Unglik, Gary and Klemann, Christian and Speckmann, Carsten and Ehl, Stephan and Leichtner, Alan and Blumberg, Richard and Franke, Andre and Snapper, Scott and Zeissig, Sebastian and Cunningham-Rundles, Charlotte and Giulino-Roth, Lisa and Elemento, Olivier and Dückers, Gregor and Niehues, Tim and Fronkova, Eva and Kanderová, Veronika and Platt, Craig D and Chou, Janet and Chatila, Talal A and Geha, Raif and McDermott, Elizabeth and Bunn, Su and Kurzai, Monika and Schulz, Ansgar and Alsina, Laia and Casals, Ferran and Deyà-Martinez, Angela and Hambleton, Sophie and Kanegane, Hirokazu and Taskén, Kjetil and Neth, Olaf and Grimbacher, Bodo
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 12/2018, Volume 142, Issue 6, pp. 1932 - 1946
Journal Article
FRONTIERS IN IMMUNOLOGY, ISSN 1664-3224, 06/2016, Volume 7, p. 220
Whole exome sequencing (WES) has proven an effective tool for the discovery of genetic defects in patients with primary immunodeficiencies (PIDs). However,... 
VARIANTS | next-generation sequencing | LRBA | IKAROS | STXBP2 | genetic diagnosis | common variable immunodeficiency | IMMUNOLOGY | whole exome sequencing | DEFICIENCY | GENOME | IMMUNE DYSREGULATION | primary immunodeficiencies | FRAMEWORK | UPDATE | MUTATIONS | Genetic research | Immunological deficiency syndromes | B cells
Journal Article
Colombia medica (Cali, Colombia), ISSN 0120-8322, 07/2018, Volume 49, Issue 3, pp. 236 - 243
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 07/2017, Volume 12, Issue 1, pp. 131 - 8
Journal Article
Blood, ISSN 0006-4971, 08/2016, Volume 128, Issue 8, pp. 1037 - 1042
CTLA-4 is a critical inhibitory "checkpoint" molecule of immune activation. Several recent reports have described patients with immune dysregulation and... 
HYDROXYCHLOROQUINE | IMMUNE DYSREGULATION | LRBA | REGULATORY T-CELLS | PATIENT | MUTATIONS | IDENTIFICATION | ENDOCYTOSIS | HEMATOLOGY | FOLLICULAR HELPER | TRANSPLANTATION | Phenotype | Immune System Diseases - genetics | Humans | Immunotherapy | CTLA-4 Antigen - genetics | Cell Cycle Checkpoints - genetics | Immune System Diseases - therapy | Mutation - genetics | Spotlight | 100 | 101
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2017, Volume 141, Issue 3, pp. 1050 - 1059.e10
Abstract Purpose LRBA (lipopolysaccharide-responsive beige like anchor protein) and CTLA4 (cytotoxic T lymphocyte antigen 4) deficiencies give rise to... 
Allergy and Immunology | CTLA4 | T Follicular Helper Cells | Autoantibodies | T Regulatory Cells | LRBA | T Follicular Regulatory Cells
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2012, Volume 130, Issue 2, pp. 481 - 488.e2
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2017, Volume 141, Issue 2, pp. 770 - 775.e1
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 4/2018, Volume 33, Issue 5, pp. 320 - 328
The nervous system may be affected in primary immune deficiency (PID) syndromes through infectious, autoimmune, neoplastic mechanisms, or as a primary feature... 
immunosuppression | agammaglobulinemia | nervous system | neurologic | primary immune deficiency | ABNORMALITIES | LRBA | CLINICAL NEUROLOGY | TRANSPLANTATION | DISEASES | AUTOIMMUNITY | PEDIATRICS | PATIENT | NUCLEOSIDE PHOSPHORYLASE-DEFICIENCY | MUTATIONS
Journal Article
Journal Article