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Clinical & Experimental Immunology, ISSN 0009-9104, 08/2013, Volume 173, Issue 2, pp. 372 - 380
Journal Article
Journal Article
The Journal of allergy and clinical immunology, ISSN 0091-6749, 12/2009, Volume 124, Issue 6, pp. 1161 - 1178
More than 50 years after Ogdeon Bruton’s discovery of congenital agammaglobulinemia, human primary immunodeficiencies (PIDs) continue to unravel novel... 
autoinflammatory disorders | primary immunodeficiencies | phagocytes | innate immunity | immune dysregulation syndromes | DNA repair defects | severe combined immune deficiency | B cells | T cells | complement | predominantly antibody deficiencies
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, pp. 1272 - 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 | Index Medicus
Journal Article
Medicinskaâ Immunologiâ, ISSN 1563-0625, 10/2017, Volume 19, Issue 5, pp. 505 - 512
Neonatal screening for primary immunodeficiencies (PID) provides a unique opportunity for early detection of moderate to severe immune disorders. Thus, the... 
TREC | SCID | primary immune deficiency | KREC | NBS
Journal Article
Medical Immunology (Russia), ISSN 1563-0625, 2017, Volume 19, Issue 5, pp. 505 - 512
Journal Article
Medicinskaâ Immunologiâ, ISSN 1563-0625, 03/2019
In this work we used a reference population of newborns and sampled dried blood spots on Guthrie cards of 2,739 individual samples to determine the reference... 
T-cells | B-cells, screening | Primary immunodeficiency (PID) | KREC | reference intervals | TREC | newborn
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 2, pp. 476 - 479.e6
  Of note, the commercial NCF1 screen examined mutations only in exon 2, which harbors the 2GT deletion that causes most reported cases of NCF1-related chronic... 
Allergy and Immunology | DEFECTS | MUTATIONS | IMMUNOLOGY | ALLERGY | LYMPHOCYTE | ARTEMIS | Immunologic Deficiency Syndromes - pathology | Alternative Splicing | Exons | Humans | Immunoglobulin A - genetics | Molecular Sequence Data | NADPH Oxidases - immunology | Male | Killer Cells, Natural - pathology | Base Sequence | Killer Cells, Natural - immunology | NADPH Oxidases - genetics | Female | B-Lymphocytes - pathology | T-Lymphocytes - pathology | Immunologic Deficiency Syndromes - diagnosis | Immunologic Deficiency Syndromes - immunology | Nuclear Proteins - genetics | Child | Nuclear Proteins - immunology | B-Lymphocytes - immunology | Immunoglobulin G - genetics | Endonucleases | Immunologic Deficiency Syndromes - genetics | Lymphocyte Count | T-Lymphocytes - immunology | High-Throughput Nucleotide Sequencing | Mutation | Genome, Human | Medical colleges | Care and treatment | Genomics | Immunodeficiency | Genomes | Nucleotide sequencing | DNA sequencing | Flow cytometry | Genetic counseling | Disease | Mutagenesis | Laboratories | Genes | Ligands | Protein expression | Infections | Patients | Index Medicus | Abridged Index Medicus | Next generation sequencing (NGS) | Primary immunodeficiency (PID) | Hyper IgM syndrome (HIGM) | Whole genome sequencing (WGS) | Chronic granulomatous disease (CGD) | Combined immunodeficiency (CID) | Severe combined immunodeficiency (SCID)
Journal Article
JOURNAL OF CLINICAL IMMUNOLOGY, ISSN 0271-9142, 01/2009, Volume 29, Issue 1, pp. 137 - 144
The present study was designed to evaluate the efficacy and safety of a novel, 10% liquid formulation of intravenous immunoglobulin, stabilized with 250 mmol/L... 
common variable immunodeficiency (CVID) | intravenous immunoglobulin (IVIG) | IMMUNE GLOBULIN | IMMUNOLOGY | DEFICIENCY | TRIAL | X-linked agammaglobulinemia (XLA) | DISEASES | Primary immunodeficiency (PID) | HYPOGAMMAGLOBULINEMIA | PRODUCT | REPLACEMENT THERAPY | DOUBLE-BLIND | 5-PERCENT
Journal Article
The Journal of Allergy and Clinical Immunology: In Practice, ISSN 2213-2198, 07/2019, Volume 7, Issue 6, pp. 1763 - 1770
Journal Article
Medicinskaâ Immunologiâ, ISSN 1563-0625, 07/2019, Volume 21, Issue 3, pp. 527 - 538
In this work, we used a reference population of newborns and sampled dried blood spots on Guthrie cards of 2,739 individual samples to determine the reference... 
screening | KREC | reference intervals | B cells | TREC | newborn | T cells | primary immunodeficiency (PID)
Journal Article
Medical Immunology (Russia), ISSN 1563-0625, 2017, Volume 18, Issue 6, pp. 583 - 588
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 8/2012, Volume 32, Issue 4, pp. 663 - 669
Journal Article
Medicinskaâ Immunologiâ, ISSN 1563-0625, 12/2016, Volume 18, Issue 6, pp. 583 - 588
In order to justify a need for mass screening of primary immunodeficiencies (PID) in a regional program for the newborns, we performed a retrospective study of... 
TREC | retrospective diagnosis | severe combined immunodeficiency (SCID) | newborn screening | KREC | primary immunodeficiency (PID)
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 04/2018, Volume 141, Issue 4, pp. 1507 - 1510.e8
[...]the patient complained of severe recurrent headaches, abdominal pain, vomiting, diarrhea, and weight loss. Patient T cells may be further activated... 
KAPPA-B | IMMUNOLOGY | IKK-EPSILON | ALLERGY | Enzymes | Immunoglobulins | Transcription factors | Cytokines | T cell receptors | Metabolism | Kinases | CD4 antigen | Haploinsufficiency | Proteins | Genotype & phenotype | Lymphocytes | Regulation | Mutation | RelA protein | Apoptosis |