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Frontiers in Immunology, 2012, Volume 3
Journal Article
The Pediatric Infectious Disease Journal, ISSN 0891-3668, 02/2019, Volume 38, Issue 2, pp. e29 - e31
Very rarely, patients with X-linked lymphoproliferative syndrome type 1 present central nervous system vasculitis. We report a patient carrying a SH2D1A... 
SLAM FAMILY RECEPTORS | INFECTIOUS DISEASES | SAP | CNS vasculitis | lymphoma | SH2D1A | EBV | LINKED LYMPHOPROLIFERATIVE DISEASE | PEDIATRICS | IMMUNOLOGY | XLP1 | XLP | Viral meningitis | Research | T cells | Burkitt's lymphoma
Journal Article
Sleep Medicine, ISSN 1389-9457, 10/2019, Volume 62, pp. 29 - 31
We present the effect of exogenous sodium oxybate (GHB) in a severely tormented boy unable to sleep and unable to be anesthetized due to a lesion in the sleep... 
GHB | GABA | Hemophagocytic lymphohistiocytosis | X-linked lymphoproliferative disease (XLP) | Duncan's disease | Gamma-hydroxybutyrate | CLINICAL NEUROLOGY | Virus diseases | Encephalitis | Laws, regulations and rules | Sleep deprivation
Journal Article
Biology of Blood and Marrow Transplantation, ISSN 1083-8791, 10/2014, Volume 20, Issue 10, pp. 1641 - 1645
X-linked lymphoproliferative disease type 1 (XLP1) is a rare immune deficiency caused by mutations in SH2D1A. Allogeneic hematopoietic cell transplantation... 
Allogeneic hematopoietic cell transplant | SLAM-associated protein | X-linked lymphoproliferative disease | SH2D1A | Reduced-intensity conditioning | Bone marrow transplant | Alemtuzumab | XLP
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 01/2018, Volume 115, Issue 3, pp. E468 - E477
Programmed cell death-1 (PD-1) is an essential inhibitory receptor in T cells. Antibodies targeting PD-1 elicit durable clinical responses in patients with... 
SHP2 | SAP | T cells | PD-1 | XLP | ACTIVATION | PROGRAMMED DEATH-1 | MULTIDISCIPLINARY SCIENCES | SH2 DOMAINS | CELL COSTIMULATORY RECEPTOR | B7 FAMILY | LIGAND | PROTEOMIC ANALYSIS | T-CELLS | EGF RECEPTOR | PKC-THETA | Physiological aspects | Observations | Cell death | Mass spectrometry | Methods | Biological Sciences | PNAS Plus
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 10/2015, Volume 35, Issue 7, pp. 604 - 609
Vasculitis occurs rarely in association with X-linked lymphoproliferative disease (XLP). There are four published cases of non-EBV XLP-associated cerebral... 
Medical Microbiology | X-linked lymphoproliferative disease (XLP) | Biomedicine | Immunology | vasculitis | HHV-7 | Infectious Diseases | Internal Medicine | haematopoietic stem cell transplant | DIAGNOSIS | T-CELL | MUTATIONS | IMMUNOLOGY | XLP | EPSTEIN-BARR-VIRUS | Cyclophosphamide - administration & dosage | Humans | Roseolovirus Infections - diagnosis | Roseolovirus Infections - therapy | Lymphoproliferative Disorders - complications | Male | Intracellular Signaling Peptides and Proteins - metabolism | Lymphoproliferative Disorders - therapy | Mutation, Missense - genetics | Joint Diseases - diagnosis | Vasculitis, Central Nervous System - therapy | Vasculitis, Central Nervous System - diagnosis | Postoperative Complications - drug therapy | Child | Intracellular Signaling Peptides and Proteins - genetics | Killer Cells, Natural - transplantation | Killer Cells, Natural - virology | HLA Antigens - immunology | Herpesvirus 7, Human - immunology | Joint Diseases - therapy | Remission Induction | Killer Cells, Natural - physiology | Cord Blood Stem Cell Transplantation | Rituximab - administration & dosage | Lymphoproliferative Disorders - diagnosis | Joint Diseases - etiology | Pedigree | Signaling Lymphocytic Activation Molecule Associated Protein | Herpesvirus 7, Human - isolation & purification | Roseolovirus Infections - complications | Vasculitis, Central Nervous System - etiology | Australia | Immunity - genetics | Pneumonia | Vasculitis | Bacterial pneumonia | Analysis | Stem cells | Aplastic anemia | Transplantation
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 137, Issue 1, pp. 188 - 196.e4
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 04/2018, Volume 19, Issue 1, pp. 60 - 5
Background: X-linked lymphoproliferative syndrome type 1 (XLP1) is an X-linked recessive genetic disorder with a strong resemblance to hemophagocytic... 
XLP1 | Nonsense mutation | Amplicon sequencing | SH2D1A | SAP | GENE | DISEASE | GENETICS & HEREDITY | XLP | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS | MISSENSE MUTATIONS | RNA | Analysis | Genetic aspects | Nucleotide sequencing | Health aspects | DNA sequencing | Apoptosis | Usage | Research
Journal Article
PLOS ONE, ISSN 1932-6203, 08/2012, Volume 7, Issue 8
Mutations altering the gene encoding the SLAM associated protein (SAP) are responsible for the X-linked lymphoproliferative disease or XLP1. Its absence is... 
SH2 DOMAIN | ACTIVATION | SLAM | SYNDROME GENE-PRODUCT | TYROSINE KINASE | MULTIDISCIPLINARY SCIENCES | XLP SYNDROME | ENCODING GENE | TRANSDUCTION | ZETA-CHAIN | LINKED LYMPHOPROLIFERATIVE-DISEASE
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 10/2009, Volume 119, Issue 10, pp. 2976 - 2989
X-linked lymphoproliferative disease (XLP) is a rare congenital immunodeficiency that leads to an extreme, usually fatal increase in the number of lymphocytes... 
SH2 DOMAIN | MEDICINE, RESEARCH & EXPERIMENTAL | HUMORAL IMMUNE-RESPONSES | ACTIVATION | SLAM | MICE DEFICIENT | XLP SYNDROME | ENCODING GENE | RECEPTOR | DEATH | LYMPHOCYTES | Antigens, CD - immunology | T-Lymphocytes - physiology | Fas Ligand Protein - metabolism | Lymphoproliferative Disorders - physiopathology | Humans | Gene Expression Profiling | Lymphoproliferative Disorders - immunology | Antigens, CD - genetics | Intracellular Signaling Peptides and Proteins - deficiency | Bcl-2-Like Protein 11 | RNA Interference | Signaling Lymphocytic Activation Molecule Family Member 1 | Microarray Analysis | Proto-Oncogene Proteins - immunology | Apoptosis Regulatory Proteins - genetics | Receptors, Antigen, T-Cell - immunology | Intracellular Signaling Peptides and Proteins - genetics | Apoptosis Regulatory Proteins - immunology | Membrane Proteins - genetics | Membrane Proteins - immunology | Proto-Oncogene Proteins - genetics | Signaling Lymphocytic Activation Molecule Family | Receptors, Cell Surface - immunology | Animals | T-Lymphocytes - cytology | Signaling Lymphocytic Activation Molecule Associated Protein | Signal Transduction - physiology | Mice | Receptors, Antigen, T-Cell - genetics | Apoptosis - physiology | Fas Ligand Protein - genetics | Receptors, Cell Surface - genetics | Care and treatment | Immune response | Lymphoproliferative disorders | Development and progression | Observations | T cells | Properties | Apoptosis
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 10/2014, Volume 34, Issue 7, pp. 772 - 779
Journal Article
Journal Article
FRONTIERS IN IMMUNOLOGY, ISSN 1664-3224, 2012, Volume 3, p. 377
The signaling lymphocyte activation molecule (SLAM) family receptor, 2B4/CD244, was first implicated in anti-viral immunity by the discovery that mutations of... 
2B4-MEDIATED ACTIVATION | NK cells | 2B4 | SLAM receptors | NATURAL-KILLER-CELL | LINKED LYMPHOPROLIFERATIVE DISEASE | CYTOMEGALOVIRUS-INFECTION | IMMUNOLOGY | T cells | MOLECULE-ASSOCIATED PROTEIN | virus infection | CUTTING EDGE | 2B4 CD244 | SLAM FAMILY RECEPTORS | B-CELLS | INCREASED SUSCEPTIBILITY | XLP | Virus infection | immunopathology
Journal Article
FRONTIERS IN IMMUNOLOGY, ISSN 1664-3224, 07/2019, Volume 10, p. 1740
Journal Article