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Nature, ISSN 0028-0836, 05/2006, Volume 441, Issue 7090, pp. 179 - 185
Journal Article
The Journal of experimental medicine, ISSN 0022-1007, 03/2017, Volume 214, Issue 3, pp. 623 - 637
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 11/2018, Volume 215, Issue 11, pp. 2715 - 2724
Genetic mutations account for many devastating early onset immune deficiencies. In contrast, less severe and later onset immune diseases, including in patients... 
MEDICINE, RESEARCH & EXPERIMENTAL | COMBINED IMMUNODEFICIENCY | PATHWAY | INNATE | GENERATION | IMMUNOLOGY | NF-KAPPA-B | TRANSCRIPTION FACTOR | EXPRESSION | P50 SUBUNIT | CARD11 | INBORN-ERRORS | Index Medicus | 316 | 310
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 03/2019, Volume 143, Issue 3, pp. 852 - 863
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 133, Issue 2, pp. 335 - 347.e11
Journal Article
Journal of Pediatric Hematology/Oncology, ISSN 1077-4114, 11/2015, Volume 37, Issue 8, pp. 616 - 622
Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency was recently defined as a new severe congenital neutropenia subgroup remarkable with congenital... 
Inflammatory bowel disease | Severe congenital neutropenia | Combined immune deficiency | Intravenous γ-globulin | TYPE-4 | DEFECT | PHENOTYPE | combined immune deficiency | G-CSF THERAPY | intravenous gamma-globulin | inflammatory bowel disease | OSTEOPOROSIS | ONCOLOGY | SYNDROMIC NEUTROPENIA | PEDIATRICS | MUTATIONS | LEUKEMIA | SPECTRUM | HEMATOLOGY | severe congenital neutropenia | Glucose-6-Phosphatase - genetics | Frameshift Mutation | Colitis - genetics | Diarrhea - enzymology | Humans | Male | Failure to Thrive - enzymology | Lymphopenia - enzymology | Thrombocytopenia - genetics | Female | Respiratory Tract Infections - complications | Neutropenia - genetics | Child | Lymphocyte Subsets - pathology | Abnormalities, Multiple - genetics | Immunologic Deficiency Syndromes - enzymology | Catalytic Domain | Failure to Thrive - genetics | RNA Splice Sites - genetics | Thrombocytopenia - congenital | Exons - genetics | Codon, Nonsense | Glycogen Storage Disease Type I - immunology | Lymphopenia - congenital | Neutropenia - enzymology | Cell Lineage | Thrombocytopenia - enzymology | Phenotype | Colitis - enzymology | Glycogen Storage Disease Type I - genetics | Turkey | Diarrhea - genetics | Pedigree | Adolescent | Abnormalities, Multiple - enzymology | Immunologic Deficiency Syndromes - genetics | Consanguinity | Mutagenesis, Insertional | Lymphopenia - genetics | Bronchiectasis - etiology | Index Medicus
Journal Article
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, ISSN 0091-6749, 04/2018, Volume 141, Issue 4, pp. 1417 - 1417
Journal Article
Blood, ISSN 0006-4971, 11/2012, Volume 120, Issue 18, pp. 3635 - 3646
Journal Article