Neonatal-onset T-B-NK+ severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3

Journal of Allergy and Clinical Immunology

Volumn 137, Issue 1, 2016, Pages 321-324

  Bernth Jensen, Jens Magnus ^a   Holm, Mette ^a   Christiansen, Mette ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ACICLOVIR; AMOXICILLIN; CD19 ANTIGEN; CD27 ANTIGEN; CD38 ANTIGEN; CD4 ANTIGEN; CD8 ANTIGEN; COMPLEMENT COMPONENT C3D RECEPTOR; COTRIMOXAZOLE; FLUCONAZOLE; FLUDARABINE; IMMUNOGLOBULIN A; IMMUNOGLOBULIN D; IMMUNOGLOBULIN E; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; PHOSPHOGLUCOMUTASE; PHOSPHOGLUCOMUTASE 3; RAG1 PROTEIN; RAG2 PROTEIN; T LYMPHOCYTE RECEPTOR; T LYMPHOCYTE RECEPTOR GAMMA CHAIN; THYMOCYTE ANTIBODY; TREOSULFAN; UNCLASSIFIED DRUG; PGM3 PROTEIN, HUMAN;

ABDOMINAL DISTENSION; ANEMIA; CASE REPORT; CAUSE OF DEATH; ENTEROPATHY; FLOW CYTOMETRY; GENE MUTATION; GENE REARRANGEMENT; HEART ATRIUM SEPTUM DEFECT; HORSESHOE KIDNEY; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; INTESTINE MALROTATION; LETTER; LIMIT OF QUANTITATION; LYMPHOCYTE PROLIFERATION; LYMPHOCYTOPENIA; MALE; MICROGNATHIA; MIDFACE HYPOPLASIA; MULTIPLE ORGAN FAILURE; NATURAL KILLER CELL; NEUTROPENIA; NEWBORN; NEWBORN DISEASE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN LOSING GASTROENTEROPATHY; RESPIRATORY DISTRESS; SEVERE COMBINED IMMUNODEFICIENCY; SMALL FOR DATE INFANT; T LYMPHOCYTE ACTIVATION; TOOTH MALFORMATION; B LYMPHOCYTE; GENETICS; IMMUNOLOGY; MUTATION; T LYMPHOCYTE;

B-LYMPHOCYTES; HUMANS; INFANT, NEWBORN; KILLER CELLS, NATURAL; MALE; MUTATION; NEUTROPENIA; PHOSPHOGLUCOMUTASE; SEVERE COMBINED IMMUNODEFICIENCY; T-LYMPHOCYTES;

EID: 84953636114     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2015.07.047     Document Type: Article

References (9)

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