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JAMA, ISSN 0098-7484, 04/2015, Volume 313, Issue 15, pp. 1550 - 1563
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2017, Volume 140, Issue 6, pp. 1660 - 1670.e16
Journal Article
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 09/2008, Volume 118, Issue 9, pp. 3143 - 3150
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 11/2019, Volume 104, Issue Suppl 4, p. A34
KYMRIAH® (Tisagenlecleucel) is an autologous T-cell prescription cancer treatment used in patients up to 25 years old who have B-cell acute lymphoblastic... 
Journal Article
Clinical Infectious Diseases, ISSN 1058-4838, 05/2016, Volume 62, Issue 9, p. 1136
  Norovirus incidence was compared between severe combined immunodeficiency children with (n = 10) and without (n = 8) B cells. 60% of B+ and 63% of B-... 
Immunoglobulins | Lymphocytes | Viruses | Infections | Immune system | Children & youth
Journal Article
Clinical Infectious Diseases, ISSN 1058-4838, 05/2016, Volume 62, Issue 9, pp. 1136 - 1138
Journal Article
Clinical Infectious Diseases, ISSN 1058-4838, 05/2016, Volume 62, Issue 9, pp. 1136 - 1136
Norovirus incidence was compared between severe combined immunodeficiency children with (n = 10) and without (n = 8) B cells. 60% of B+ and 63% of B- patients... 
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 135, Issue 5, pp. 1310 - 1318.e1
Background Familial hemophagocytic lymphohistiocytosis (FHL) is a rare and often fatal disorder characterized by defective cellular cytotoxicity and... 
Allergy and Immunology | Griscelli syndrome type 2 | melanophilin | Hemophagocytic lymphohistiocytosis | familial hemophagocytic lymphohistiocytosis | natural killer cells | cytotoxic T lymphocyte | MYOSIN VA | PERFORIN | IMMUNOLOGY | PLASMA-MEMBRANE | MELANOSOME TRANSPORT | LYSOSOMES | ALLERGY | STEM-CELL TRANSPLANTATION | GRANULE SECRETION | EXPRESSION | LYMPHOCYTES | Perforin - genetics | Humans | Child, Preschool | Infant | Male | rab GTP-Binding Proteins - genetics | Case-Control Studies | Skin Pigmentation - genetics | DNA Mutational Analysis | Female | Membrane Proteins - metabolism | Lymphohistiocytosis, Hemophagocytic - genetics | Child | rab GTP-Binding Proteins - metabolism | Cell Line | Gene Expression | Cell Degranulation | Lymphohistiocytosis, Hemophagocytic - diagnosis | Models, Molecular | Genetic Markers | Phenotype | Membrane Proteins - chemistry | Lymphohistiocytosis, Hemophagocytic - metabolism | Adolescent | Albinism - genetics | Protein Binding | rab27 GTP-Binding Proteins | Protein Conformation | rab GTP-Binding Proteins - chemistry | Mutation | Adaptor Proteins, Signal Transducing - metabolism | Cohort Studies | Cytotoxicity, Immunologic | Transplantation | Hematopoietic stem cells | Proteins | Stem cells | Amino acids | Cytotoxicity | Patients | Immune system | Immune Deficiencies, Infection, and Systemic Immune Disorders | Slp2a, Synaptotagmin-like protein 2a | GRA, Granule release assay | GFP, Green fluorescent protein | GTP, Guanosine triphosphate | GS2, Griscelli syndrome type 2 | FHL, Familial Hemophagocytic lymphohistiocytosis | OMIM, Online Mendelian Inheritance in Man | HLH, Hemophagocytic lymphohistiocytosis | CTL, Cytotoxic T lymphocyte | Mlph, melanophilin | NK, Natural killer
Journal Article
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 2, pp. 634 - 642.e5
Background Signaling through the T-cell receptor (TCR) is critical for T-cell development and function. Linker for activation of T cells (LAT) is a... 
Allergy and Immunology | T lymphopenia | immunodeficiency | linker for activation of T cells | Severe combined immunodeficiency | genetic defect | T-cell receptor signaling | TYROSINE PHOSPHORYLATION | linker for activation of T cells | ANTIGEN RECEPTOR COMPLEX | DEATH | IMMUNOLOGY | DEFICIENCY | SIGNAL-TRANSDUCTION | ALLERGY | DISEASE | MICE | CD3-EPSILON GENE | ADAPTER PROTEIN | EXPRESSION | T-Lymphocytes - physiology | Receptors, Antigen, T-Cell - metabolism | Jurkat Cells | Lymphocyte Activation | Membrane Proteins - genetics | Humans | Transgenes - genetics | Genotype | Male | Homozygote | Severe Combined Immunodeficiency - genetics | Pakistan | Pedigree | Adaptor Proteins, Signal Transducing - genetics | Female | Cell Differentiation | Consanguinity | Membrane Proteins - metabolism | Receptors, Antigen, T-Cell - genetics | Adaptor Proteins, Signal Transducing - metabolism | Calcium Signaling - genetics | Apoptosis | Sequence Deletion - genetics | Medical genetics | Bone marrow | Genetic aspects | Transplantation | Children | Research institutes | T cells | Health aspects | Consulting services | Killer cells | Analysis | Genetic research | Genetic polymorphisms | Phosphorylation | Immunoglobulins | Transplants & implants | Genes | Kinases | Defects | Proteins | Studies | Signal transduction | Lymphocytes | Rodents | Mutation | Deoxyribonucleic acid--DNA
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 4, pp. 1302 - 1310.e4
Journal Article
Clinical Infectious Diseases, ISSN 1058-4838, 05/2016, Volume 62, Issue 9, pp. 1136 - 1138
Journal Article
Nature Communications, ISSN 2041-1723, 12/2016, Volume 7, Issue 1, p. 13992
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 11/2018, Volume 142, Issue 5, pp. 1654 - 1656.e7
In some cases we used specialized avenues, such as preimplantation genetic diagnosis, for selection of an unaffected HLA-matched sibling donor (n = 1) and... 
IMMUNOLOGY | ALLERGY | STEM-CELL TRANSPLANTATION | IMMUNODEFICIENCY | BLOOD | Wiskott-Aldrich syndrome | Cytomegalovirus | Ostomy | Immunoglobulins | Transplants & implants | Lymphocytes | Neutrophils | Transplantation | Arthritis | Survival
Journal Article