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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 4, pp. 1302 - 1310.e4
Journal Article
BMC Pediatrics, ISSN 1471-2431, 12/2018, Volume 18, Issue 1, pp. 1 - 5
Abstract Background Triple A syndrome (or Allgrove syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency... 
Allgrove syndrome | Achalasia | Alacrimia | Neuropathy | Adrenal failure | Autonomic
Journal Article
Frontiers in immunology, ISSN 1664-3224, 2018, Volume 9, p. 2197
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 07/2018, Volume 142, Issue 1, pp. 235 - 245.e6
X-linked lymphoproliferative disease 1 arises from mutations in the gene encoding SLAM-associated protein (SAP), an adaptor protein expressed in T, natural... 
follicular helper T cells | X-linked lymphoproliferative disease | T-cell cytotoxicity | T-cell gene therapy | NATURAL-KILLER-CELLS | SAP | MICE DEFICIENT | INTERLEUKIN-21 | IMMUNOLOGY | THERAPY | FOLLICULAR-HELPER-CELLS | ALLERGY | INFECTED CELLS | DIFFERENTIATION | IMMUNODEFICIENCY | REQUIREMENT | Gene Transfer Techniques | Animals | Heterografts | T-Lymphocytes, Cytotoxic - transplantation | Humans | Lymphoproliferative Disorders - genetics | Lymphoproliferative Disorders - immunology | Mice | Signaling Lymphocytic Activation Molecule Associated Protein - genetics | Genetic Therapy - methods | Killer cells | Leukemia | Genes | Genetic research | Transplantation | Lymphomas | T cells | Hematopoietic stem cells | Flow cytometry | Laboratories | Toxicity | Poultry | Xenotransplantation | Recovery of function | Effector cells | Stem cell transplantation | Cytotoxicity | Lymphocytes T | SAP protein | Experiments | Recovery | Adoptive transfer | Defects | Proteins | Genotype & phenotype | Lymphocytes | Rodents | Xenografts | Biocompatibility | Natural killer cells | SAP gene | Autografts | Antigens | Immunization | Immunoglobulins | Abnormalities | Cloning | SH2D1A protein | CD3 antigen | Histiocytosis | Patients | Lymphoma | Hemopoiesis | Stem cells | Mutation | Gene therapy | Lymphocytosis | Tumors | HSCT, Hematopoietic stem cell transplantation | TFH, T follicular helper | BV, Brilliant Violet | MOI, Multiplicity of infection | NP-CGG, 4-hydroxy-3-nitrophenylacetly conjugated chicken gammaglobulin | PE, Phycoerythrin | LCL, Lymphoblastoid cell line | XLP, X-linked lymphoproliferative disease | PD-1, Programmed cell death protein 1 | HLH, Hemophagocytic lymphohistiocytosis | CTL, Cytotoxic T lymphocyte | HVS, Herpesvirus saimiri | NK, Natural killer | SAP, SLAM-associated protein
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 09/2018, Volume 142, Issue 3, pp. 904 - 913.e3
Journal Article
by Slack, James and Albert, Michael H and Balashov, Dmitry and Belohradsky, Bernd H and Bertaina, Alice and Bleesing, Jack and Booth, Claire and Buechner, Jochen and Buckley, Rebecca H and Ouachée-Chardin, Marie and Deripapa, Elena and Drabko, Katarzyna and Eapen, Mary and Feuchtinger, Tobias and Finocchi, Andrea and Gaspar, H. Bobby and Ghosh, Sujal and Gillio, Alfred and Gonzalez-Granado, Luis I and Grunebaum, Eyal and Güngör, Tayfun and Heilmann, Carsten and Helminen, Merja and Higuchi, Kohei and Imai, Kohsuke and Kalwak, Krzysztof and Kanazawa, Nubuo and Karasu, Gülsün and Kucuk, Zeynep Y and Laberko, Alexandra and Lange, Andrzej and Mahlaoui, Nizar and Meisel, Roland and Moshous, D and Muramatsu, Hideki and Parikh, Suhag and Pasic, Srdjan and Schmid, Irene and Schuetz, Catharina and Schulz, Ansgar and Schultz, Kirk R and Shaw, Peter J and Slatter, Mary A and Sykora, Karl-Walter and Tamura, Shinobu and Taskinen, Mervi and Wawer, Angela and Wolska-Kuśnierz, Beata and Cowan, Morton J and Fischer, Alain and Gennery, Andrew R and Ctr Int Blood Marrow and European Soc Blood Marrow and Primary Immunodeficiency Treatment and European Soc Immunodeficiencies and Stem Cell Transplant and Center for International Blood and Marrow Transplant Research and Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies and Primary Immunodeficiency Treatment Consortium and Stem Cell Transplant for Immunodeficiencies in Europe (SCETIDE)
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 01/2018, Volume 141, Issue 1, pp. 322 - 328.e10
Journal Article
British Journal of Haematology, ISSN 0007-1048, 10/2015, Volume 171, Issue 2, pp. 155 - 170
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 03/2015, Volume 35, Issue 3, pp. 273 - 279
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2017, Volume 141, Issue 1, pp. 322 - 328.e10
Abstract Background Rare DNA breakage-repair disorders predispose to infection and lympho-reticular malignancies. Hematopoietic cell transplantation (HCT) is... 
Allergy and Immunology | Ataxia-Telangiectasia | DNA Ligase 4 deficiency | Nijmegen Breakage syndrome | DNA repair disorders | Hematopoietic stem cell transplantation | Cernunnos-XLF deficiency
Journal Article
BMC Pediatrics, ISSN 1471-2431, 01/2018, Volume 18, Issue 1, p. 6
Background: Triple A syndrome (or Allgrove syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and... 
Allgrove syndrome | Alacrimia | Achalasia | Neuropathy | Adrenal failure | Triple A | Autonomic | AUTONOMIC DYSFUNCTION | A-SYNDROME | ADRENAL INSUFFICIENCY | PHENOTYPE | AAAS GENE | DEFICIENCY | WD-REPEAT PROTEIN | PEDIATRICS | MUTATIONS | ALACRIMA | Case studies | Care and treatment | Genetic disorders | Diagnosis | Children | Diseases
Journal Article
by El-Helou, SM and Biegner, AK and Bode, S and Ehl, SR and Heeg, M and Maccari, ME and Ritterbusch, H and Speckmann, C and Rusch, S and Scheible, R and Warnatz, K and Atschekzei, F and Beider, R and Ernst, D and Gerschmann, S and Jablonka, A and Mielke, G and Schmidt, RE and Schurmann, G and Sogkas, G and Baumann, UH and Klemann, C and Viemann, D and von Bernuth, H and Kruger, R and Hanitsch, LG and Scheibenbogen, CM and Wittke, K and Albert, MH and Eichinger, A and Hauck, F and Klein, C and Rack-Hoch, A and Sollinger, FM and Avila, A and Borte, M and Borte, S and Fasshauer, M and Hauenherm, A and Kellner, N and Muller, AH and Ulzen, A and Bader, P and Bakhtiar, S and Lee, JY and Hess, U and Schubert, R and Wolke, S and Zielen, S and Ghosh, S and Laws, HJ and Neubert, J and Oommen, PT and Honig, M and Schulz, A and Steinmann, S and Schwarz, K and Duckers, G and Lamers, B and Langemeyer, V and Niehues, T and Shai, S and Graf, D and Muglich, C and Schmalzing, MT and Schwaneck, EC and Tony, HP and Dirks, J and Haase, G and Liese, JG and Morbach, H and Foell, D and Hellige, A and Wittkowski, H and Masjosthusmann, K and Mohr, M and Geberzahn, L and Hedrich, CM and Muller, C and Rosen-Wolff, A and Roesler, J and Zimmermann, A and Behrends, U and Rieber, N and Schauer, U and Handgretinger, R and Holzer, U and Henes, J and Kanz, L and Boesecke, C and Rockstroh, JK and Schwarze-Zander, C and Wasmuth, JC and Dilloo, D and Hulsmann, B and Schonberger, S and Schreiber, S and Zeuner, R and Ankermann, T and von Bismarck, P and ...
FRONTIERS IN IMMUNOLOGY, ISSN 1664-3224, 07/2019, Volume 10, p. 1272
Introduction: The German PID-NET registry was founded in 2009, serving as the first national registry of patients with primary immunodeficiencies (PID) in... 
CVID | AFRICA | IgG substitution therapy | PID prevalence | European Society for Immunodeficiencies (ESID) | DISORDERS | IMMUNOLOGY | registry for primary immunodeficiency | primary immunodeficiency (PID) | KUWAIT | German PID-NET registry
Journal Article