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1. Full Text Combined Immunodeficiency Associated with DOCK8 Mutations
by Zhang, Qian and Davis, Jeremiah C and Davis, Joie and Lamborn, Ian T and Freeman, Alexandra F and Jing, Huie and Favreau, Amanda J and Matthews, Helen F and Turner, Maria L and Uzel, Gulbu and Holland, Steven M and Su, Helen C
The New England Journal of Medicine, ISSN 0028-4793, 11/2009, Volume 361, Issue 21, pp. 2046 - 2055
This article describes a group of 11 patients between the ages of 6 and 21 years who had recurrent sinopulmonary infections, extensive cutaneous viral... 
HYPER-IGE SYNDROME | STAT3 MUTATIONS | MEDICINE, GENERAL & INTERNAL | ACTIVATOR | DISEASES | EGRESS | DIFFERENTIATION | T-CELL IMMUNODEFICIENCY | DEFICIENCIES | DELETION | FAMILY | Guanine Nucleotide Exchange Factors - genetics | Skin Diseases, Infectious - genetics | Lymphocyte Activation | Humans | Male | Severe Combined Immunodeficiency - immunology | Genes, Recessive | Respiratory Tract Infections - genetics | CD8-Positive T-Lymphocytes - physiology | Severe Combined Immunodeficiency - genetics | Guanine Nucleotide Exchange Factors - metabolism | Pedigree | Gene Deletion | Immunoglobulins - blood | Respiratory Tract Infections - immunology | Female | Skin Diseases, Infectious - immunology | Longitudinal Studies | Virus diseases | Polymerase chain reaction | Usage | Gene mutations | Staphylococcal infections | Analysis | Causes of | Immunological deficiency syndromes | Otitis media | Genetic aspects | Health aspects | Mutation | Disease | Lymphocytes | Viral infections | Immune system | Index Medicus | Abridged Index Medicus
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2. Full Text LPS-responsive beige-like anchor ( LRBA ) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency
by Alangari, Abdullah, MD and Alsultan, Abdulrahman, MD and Adly, Nouran, BSc and Massaad, Michel J., PhD and Kiani, Iram Shakir, MD and Aljebreen, Abdulrahman, MD and Raddaoui, Emad, MD and Almomen, Abdul-Kareem, MD and Al-Muhsen, Saleh, MD and Geha, Raif S., MD and Alkuraya, Fowzan S., MD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2012, Volume 130, Issue 2, pp. 481 - 488.e2
Background Clinical immunology has traditionally relied on accurate phenotyping of the patient's immune dysfunction for the identification of a candidate gene... 
Allergy and Immunology | common variable immunodeficiency | autoimmunity | LPS-responsive beige-like anchor (LRBA) | chronic diarrhea | ANTIBODY-DEFICIENCY SYNDROME | B-CELL | TACI | ALLERGY | HUMANS | CHEDIAK-HIGASHI-SYNDROME | IMMUNOLOGY | Humans | Inflammatory Bowel Diseases - immunology | Molecular Sequence Data | Male | Lipopolysaccharides - immunology | Exome - immunology | Young Adult | DNA Mutational Analysis | Base Sequence | Inflammatory Bowel Diseases - genetics | Inflammatory Bowel Diseases - complications | Child | Immunophenotyping | Severe Combined Immunodeficiency - immunology | Severe Combined Immunodeficiency - complications | Severe Combined Immunodeficiency - genetics | Exome - genetics | Phenotype | Pedigree | Adaptor Proteins, Signal Transducing - deficiency | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Family | Consanguinity | Mutation | Medical colleges | Gene mutations | Gastrointestinal diseases | Genes | Immunodeficiency | Genetic research | Genetic aspects | Inflammatory bowel disease | Immune system | Index Medicus | Abridged Index Medicus | Inflammatory bowel diseases | Filtration | Intestine | Phenotyping | Point mutation | Gene mapping | Immunity | Genetic screening
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3. Full Text Human severe combined immunodeficiency: Genetic, phenotypic, and functional diversity in one hundred eight infants
by Buckley, Rebecca H and Schiff, Sherrie E and Schiff, Richard I and Markert, M.Louise and Williams, Larry W and Harville, Terry O and Roberts, Joseph L and Puck, Jennifer M
The Journal of Pediatrics, ISSN 0022-3476, 1997, Volume 130, Issue 3, pp. 378 - 387
To determine the relative frequencies of the different genetic forms of severe combined immunodeficiency (SCID) and whether there are distinctive... 
IMMUNITY | ADENOSINE-DEAMINASE | BONE-MARROW CELLS | DEFECT | MUTATION | DISEASE | KINASE | PEDIATRICS | STEM-CELL TRANSPLANTATION | DEFICIENCY | LYMPHOCYTES | Humans | Genotype | Immunophenotyping | Infant | Male | Severe Combined Immunodeficiency - immunology | Protein-Tyrosine Kinases - deficiency | Genes, Recessive | Janus Kinase 3 | Severe Combined Immunodeficiency - genetics | Phenotype | Immunoglobulins - blood | X Chromosome | Female | Adenosine Deaminase - deficiency | Infant, Newborn | Genetic Linkage | Adenosine | Histocompatibility antigens | Severe combined immunodeficiency | Lymphocytes | Analysis | HLA histocompatibility antigens | Genetic research | Infants | Index Medicus | Abridged Index Medicus
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4. Full Text Genetics of Severe Combined Immunodeficiency
by Kumrah, Rajni and Vignesh, Pandiarajan and Patra, Pratap and Singh, Ankita and Gummadi, Anjani and Saini, Poonam and Sharma, Madhubala and Kaur, Anit and Rawat, Amit
Genes & Diseases, ISSN 2352-3042, 07/2019
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5. Full Text Generation of knockout rats with X-linked severe combined immunodeficiency (X-SCID) using zinc-finger nucleases
by Mashimo, Tomoji and Takizawa, Akiko and Voigt, Birger and Yoshimi, Kazuto and Hiai, Hiroshi and Kuramoto, Takashi and Serikawa, Tadao
PLoS ONE, ISSN 1932-6203, 01/2010, Volume 5, Issue 1, pp. e8870 - e8870
Background: Although the rat is extensively used as a laboratory model, the inability to utilize germ line-competent rat embryonic stem (ES) cells has been a... 
MUTANT | MUTAGENESIS | GENE | MODELS | INTERLEUKIN-2-RECEPTOR GAMMA-CHAIN | LYMPHOID DEVELOPMENT | EMBRYONIC STEM-CELLS | MUTATION | BIOLOGY | BLASTOCYSTS | NOG MICE | Zinc Fingers | Animals, Genetically Modified | Humans | RNA, Messenger - genetics | Rats, Inbred F344 | Molecular Sequence Data | Rats | Male | Transplantation, Heterologous | Gene Knockout Techniques | Germ Cells | Sequence Homology, Nucleic Acid | Deoxyribonucleases - metabolism | Severe Combined Immunodeficiency - genetics | Animals | Base Sequence | Female | Genetic Diseases, X-Linked - genetics | Mutation | Nucleases | Gene mutations | Interleukins | Drosophila | Genomics | Genetically modified organisms | Genetic aspects | DNA binding proteins | Zinc finger proteins | Animal models | Biomedical research | Severe combined immunodeficiency | Sperm | Interleukin | Insertion | Genomes | Experiments | Oocytes | Gene targeting | Clonal deletion | Interleukin 2 | Rodents | Coinjection | Deletion | Genetic modification | Deoxyribonucleic acid--DNA | Immune system | Cytokines | Melanoma | Zebrafish | Zinc | Pronucleus | Medicine | Offspring | Mutagenesis | Stem cells | In vivo methods and tests | Genetic engineering | Gene therapy | Laboratory animals | Index Medicus | Deoxyribonucleic acid | DNA
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6. Full Text Combined immunodeficiency associated with homozygous MALT1 mutations
by McKinnon, Margaret L., MD and Rozmus, Jacob, MD and Fung, Shan-Yu, PhD and Hirschfeld, Aaron F., MSc and Del Bel, Kate L., MSc and Thomas, Leah, BSc and Marr, Nico, Dr rer nat and Martin, Spencer D., BSc and Marwaha, Ashish K., BM, BCh and Priatel, John J., PhD and Tan, Rusung, MD, PhD and Senger, Christof, MD and Tsang, Angela, BSc and Prendiville, Julie, MD and Junker, Anne K., MD and Seear, Michael, MB, ChB and Schultz, Kirk R., MD and Sly, Laura M., PhD and Holt, Robert A., PhD and Patel, Millan S., MD, MSc and Friedman, Jan M., MD, PhD and Turvey, Stuart E., MBBS, DPhil
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 133, Issue 5, pp. 1458 - 1462.e7
Allergy and Immunology | VARIANTS | ALLERGY | 11 CARD11 | IMMUNOLOGY | CELL | LYMPHOCYTE-ACTIVATION | DEFICIENCY | FAMILY | Caspases - immunology | Caspases - genetics | Humans | Neoplasm Proteins - immunology | Severe Combined Immunodeficiency - immunology | Homozygote | Severe Combined Immunodeficiency - genetics | Adolescent | Female | Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein | Mutation | Severe Combined Immunodeficiency - pathology | Neoplasm Proteins - genetics | Genetic research | Genetic aspects | Immunodeficiency | Medical genetics | Index Medicus | Abridged Index Medicus
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7. Full Text A homozygous mucosa-associated lymphoid tissue 1 ( MALT1 ) mutation in a family with combined immunodeficiency
by Jabara, Haifa H., BSc and Ohsumi, Toshiro, PhD and Chou, Janet, MD and Massaad, Michel J., PhD and Benson, Halli, BSc and Megarbane, Andre, MD, PhD and Chouery, Eliane, PhD and Mikhael, Raymond, MD and Gorka, Oliver, MD and Gewies, Andreas, PhD and Portales, Pierre, MD and Nakayama, Toshinori, MD, PhD and Hosokawa, Hiroyuki, PhD and Revy, Patrick, PhD and Herrod, Henry, MD and Le Deist, Francoise, MD, PhD and Lefranc, Gerard, PhD and Ruland, Jürgen, MD and Geha, Raif S., MD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 132, Issue 1, pp. 151 - 158
Background Combined immunodeficiency (CID) is characterized by severe recurrent infections with normal numbers of T and B lymphocytes but with deficient... 
Allergy and Immunology | NF-κB | combined immunodeficiency (CID) | MALT1 | Combined immunodeficiency (CID) | NF-kappa B | ALLERGY | T-CELL | IMMUNOLOGY | DEFICIENCY | CARD11 | Amino Acid Sequence | Caspases - genetics | Lymphocyte Activation | Humans | Cells, Cultured | Child, Preschool | Molecular Sequence Data | Severe Combined Immunodeficiency - immunology | Caspases - analysis | Severe Combined Immunodeficiency - genetics | Animals | I-kappa B Kinase - metabolism | T-Lymphocytes - metabolism | Neoplasm Proteins - analysis | Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein | Mutation | Neoplasm Proteins - genetics | Child | Medical colleges | Genetic aspects | Immunodeficiency | Medical genetics | T cell receptors | Kinases | Genes | Index Medicus | Abridged Index Medicus
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8. Full Text Whole-exome sequencing links caspase recruitment domain 11 ( CARD11 ) inactivation to severe combined immunodeficiency
by Greil, Johann, MD and Rausch, Tobias, PhD and Giese, Thomas, MD and Bandapalli, Obul R., PhD and Daniel, Volker, MD and Bekeredjian-Ding, Isabelle, MD and Stütz, Adrian M., PhD and Drees, Christoph, MD and Roth, Susanne, MD and Ruland, Jürgen, MD and Korbel, Jan O., PhD and Kulozik, Andreas E., MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 131, Issue 5, pp. 1376 - 1383.e3
Background Primary immunodeficiencies represent model diseases for the mechanistic understanding of the human innate and adaptive immune response. They are... 
Allergy and Immunology | caspase recruitment domain 11 (CARD11) | B cell | infection | nuclear factor κB | Whole-exome sequencing | systematic variant categorization | T cell | severe combined immunodeficiency | ACTIVATION | CARMA1 | nuclear factor kappa B | INNATE | IMMUNOLOGY | FAMILY | ALLERGY | MUTATIONS | NF-KAPPA-B | ASSOCIATION | REQUIREMENT | ANTIGEN | Amino Acid Sequence | Cell Line | Jurkat Cells | Humans | CARD Signaling Adaptor Proteins - deficiency | Molecular Sequence Data | Infant | Guanylate Cyclase - antagonists & inhibitors | Severe Combined Immunodeficiency - immunology | Codon, Nonsense | CARD Signaling Adaptor Proteins - genetics | CARD Signaling Adaptor Proteins - antagonists & inhibitors | Homozygote | Severe Combined Immunodeficiency - complications | Severe Combined Immunodeficiency - genetics | Guanylate Cyclase - deficiency | Pedigree | Female | Guanylate Cyclase - genetics | Severe combined immunodeficiency | Analysis | Genomics | Flow cytometry | Laboratories | Colleges & universities | T cell receptors | Genomes | Kinases | Gene expression | Patients | Proteins | Ethics | Signal transduction | Lymphocytes | Mutation | Age | Deoxyribonucleic acid--DNA | Index Medicus | Abridged Index Medicus
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9. Full Text CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia
by van Montfrans, Joris M., MD, PhD and Hoepelman, Andy I.M., MD, PhD and Otto, Sigrid, BSc and van Gijn, Marielle, PhD and van de Corput, Lisette, PhD and de Weger, Roel A., PhD and Monaco-Shawver, Linda, BSc and Banerjee, Pinaki P., PhD and Sanders, Elisabeth A.M., MD, PhD and Jol–van der Zijde, Cornelia M., PhD and Betts, Michael R., PhD and Orange, Jordan S., MD, PhD and Bloem, Andries C., PhD and Tesselaar, Kiki, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2011, Volume 129, Issue 3, pp. 787 - 793.e6
Background CD27 is a lymphocyte costimulatory molecule that regulates T-cell, natural killer (NK) cell, B-cell, and plasma cell function, survival, and... 
Allergy and Immunology | phenotype | B cell | T cell | EBV | CD27 | immunodeficiency | hypogammaglobulinemia | natural killer cell | viremia | LINKED LYMPHOPROLIFERATIVE SYNDROME | DENDRITIC CELLS | IMMUNOLOGY | CD8(+) T-CELLS | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS | MEMORY | ALLERGY | B-CELL ACTIVATION | CD27-CD70 INTERACTIONS | XIAP DEFICIENCY | INFECTION | EPSTEIN-BARR-VIRUS | Gram-Positive Bacterial Infections - immunology | Anemia, Aplastic - virology | Humans | Male | Gram-Positive Bacterial Infections - virology | Severe Combined Immunodeficiency - physiopathology | Young Adult | Severe Combined Immunodeficiency - virology | T-Lymphocytes - metabolism | Fatal Outcome | Epstein-Barr Virus Infections - genetics | Gram-Positive Bacterial Infections - genetics | Herpesvirus 4, Human - pathogenicity | B-Lymphocytes - pathology | T-Lymphocytes - pathology | Gram-Positive Bacterial Infections - complications | Anemia, Aplastic - complications | Anemia, Aplastic - genetics | B-Lymphocytes - metabolism | Siblings | Epstein-Barr Virus Infections - physiopathology | Gram-Positive Bacterial Infections - physiopathology | Epstein-Barr Virus Infections - virology | Epstein-Barr Virus Infections - immunology | Immunity, Humoral - genetics | Cells, Cultured | Herpesvirus 4, Human - immunology | Viremia - genetics | Severe Combined Immunodeficiency - immunology | Tumor Necrosis Factor Receptor Superfamily, Member 7 - genetics | Mutation - genetics | Agammaglobulinemia - etiology | Anemia, Aplastic - physiopathology | Severe Combined Immunodeficiency - complications | Severe Combined Immunodeficiency - genetics | B-Lymphocytes - immunology | Viremia - virology | Pedigree | Epstein-Barr Virus Infections - complications | T-Lymphocytes - immunology | Viremia - immunology | Consanguinity | Anemia, Aplastic - immunology | Antigens | Genes | Staphylococcus aureus infections | T cells | Diseases | Virus diseases | Lymphocytes | Virus diseases in children | Medical genetics | Cross infection | Children | Tetanus | Nosocomial infections | Mitogens | Ligands | Infections | T cell receptors | Family medical history | Patients | Age | Viral infections | Fever | Immune system | Index Medicus | Abridged Index Medicus | CD27 antigen | Immunoglobulins | Cell survival | Viremia | Aplastic anemia | Immunodeficiency | Hypogammaglobulinemia | Lymphocytes T | Costimulator | Infection | Lymphocytes B | Plasma cells | Sepsis | Mutation | Natural killer cells | Differentiation | NK cell
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10. Full Text Neonatal-onset T− B− NK+ severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3
by Bernth-Jensen, Jens Magnus, MD and Holm, Mette, PhD and Christiansen, Mette, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 137, Issue 1, pp. 321 - 324
  Lymphocyte proliferation test results were moderately low, and high percentages of T cells were activated, antigen experienced, double-negative (CD4-CD8-),... 
Allergy and Immunology | ALLERGY | GLYCOSYLATION | IMMUNOLOGY | Severe Combined Immunodeficiency - genetics | B-Lymphocytes - immunology | Humans | Killer Cells, Natural - immunology | Male | T-Lymphocytes - immunology | Severe Combined Immunodeficiency - immunology | Mutation | Neutropenia - genetics | Infant, Newborn | Phosphoglucomutase - genetics | Neutropenia - immunology | Antigens | Genotype & phenotype | Chemotherapy | Lymphocytes | Laboratories | T cell receptors | Neutropenia
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11. Full Text Defining combined immunodeficiency
by Roifman, Chaim M., MD and Somech, Raz, MD and Kavadas, Fotini, MD and Pires, Linda, HBSc and Nahum, Amit, MD and Dalal, Ilan, MD and Grunebaum, Eyal, MD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2012, Volume 130, Issue 1, pp. 177 - 183
Background Although the extreme condition of typical profound T-cell dysfunction (TD), severe combined immunodeficiency (SCID), has been carefully defined, we... 
Allergy and Immunology | phytohemagglutinin | CD3 | Combined immunodeficiency | T-cell receptor excision circles | INTERLEUKIN-2-RECEPTOR | DEFECTS | COMBINED IMMUNE-DEFICIENCY | RECEPTOR | OMENN-SYNDROME | IMMUNOLOGY | ALLERGY | ALPHA-CHAIN | MUTATIONS | EXPRESSION | HYPER-IGM | MANIFESTATIONS | Severe Combined Immunodeficiency - diagnosis | Humans | Child, Preschool | Infant | Male | Phytohemagglutinins - immunology | Severe Combined Immunodeficiency - immunology | Neonatal Screening | CD3 Complex - metabolism | Severe Combined Immunodeficiency - genetics | Flow Cytometry | T-Lymphocytes - metabolism | Immunologic Deficiency Syndromes - genetics | Lymphocyte Count | Female | Receptors, Antigen, T-Cell - immunology | T-Lymphocytes - immunology | Receptors, Antigen, T-Cell - genetics | Immunologic Deficiency Syndromes - diagnosis | Immunologic Deficiency Syndromes - immunology | Infant, Newborn | Bone marrow | Transplantation | T cells | Children's hospitals | Immunodeficiency | Lymphocytes | Skin & tissue grafts | Ear diseases | T cell receptors | Mutation | Medical screening | Deoxyribonucleic acid--DNA | Immune system | Index Medicus | Abridged Index Medicus
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12. Full Text Il2rg Gene-Targeted Severe Combined Immunodeficiency Pigs
by Suzuki, Shunichi and Suzuki, Misae and Suzuki, Nahoko and Suzuki, Emi and Iwamoto, Masaki and Saito, Yoriko and Fuchimoto, Daiichiro and Sembon, Shoichiro and Mikawa, Satoshi and Hashimoto, Michiko and Aoki, Yuki and Najima, Yuho and Takagi, Shinsuke and Kubo, Masanori and Mimuro, Jun and Kashiwakura, Yuji and Madoiwa, Seiji and Sakata, Yoichi and Perry, Anthony C.F and Ishikawa, Fumihiko and Onishi, Akira
Cell Stem Cell, ISSN 1934-5909, 06/2012, Volume 10, Issue 6, pp. 753 - 758
A porcine model of severe combined immunodeficiency (SCID) promises to facilitate human cancer studies, the humanization of tissue for xenotransplantation, and... 
BETA-CHAIN | T-CELL PROLIFERATION | STEM-CELLS | IMMUNE-SYSTEM | INTERLEUKIN-2-RECEPTOR GAMMA-CHAIN | CYTOPLASMIC DOMAINS | CLONED MICE | FUNCTIONAL COMPONENT | IL-2 RECEPTOR | EXPRESSION | CELL & TISSUE ENGINEERING | CELL BIOLOGY | Gene Targeting | Genetic Therapy | Humans | Severe Combined Immunodeficiency - therapy | Male | Severe Combined Immunodeficiency - immunology | Interleukin Receptor Common gamma Subunit - genetics | Interleukin Receptor Common gamma Subunit - immunology | Severe Combined Immunodeficiency - genetics | Animals | T-Lymphocytes - metabolism | Swine | Killer Cells, Natural - immunology | Female | T-Lymphocytes - immunology | Killer Cells, Natural - metabolism | Disease Models, Animal | Index Medicus | Animal models | Immunoglobulins | Severe combined immunodeficiency | X chromosome | Bone marrow transplantation | Heterozygotes | Donors | Interleukin 2 | Stem cells | Xenografts | Bone marrow | Fibroblasts | Natural killer cells | nuclear transfer | Cancer
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