Severe combined immunodeficiency resulting from mutations in MTHFD1

Pediatrics

Volumn 131, Issue 2, 2013, Pages

  Keller, Michael D ^a,b   Ganesh, Jaya ^b   Heltzer, Meredith ^b,c   Paessler, Michele ^d   Bergqvist, A G Christina ^a   Baluarte, Jorge ^e,f   Watkins, David ^d   Rosenblatt, David S ^a,b   Orange, Jordan S ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b Department of Medicine   (United States)

^c Department of Pathology ^*  (United States)

^d Division of Neurology   (United States)

^e MCGILL UNIVERSITY   (Canada)

^f TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

Cobalamin; Folate; Hemolytic uremic syndrome; Immunodeficiency; Megaloblast

Indexed keywords

ANTICONVULSIVE AGENT; BETAINE; CORTICOSTEROID; COTRIMOXAZOLE; CYANOCOBALAMIN; DIPHTHERIA ANTIBODY; FOLIC ACID; FOLIC ACID DERIVATIVE; HEMOGLOBIN; HOMOCYSTEINE; HYDROXOCOBALAMIN; IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN M; LACTATE DEHYDROGENASE; MECOBALAMIN; METHIONINE; METHYLFOLATE; METHYLPREDNISOLONE; TETANUS ANTIBODY; UNCLASSIFIED DRUG;

ACUTE KIDNEY FAILURE; AMINO ACID BLOOD LEVEL; ANEMIA; ANTIBIOTIC THERAPY; ANTIBODY PRODUCTION; ANTIBODY TITER; ARTICLE; ASTHMA; AUTISM; BEHAVIOR THERAPY; BLOOD SMEAR; BONE MARROW BIOPSY; BRAIN DISEASE; BRAIN HYPOPLASIA; CASE REPORT; CATHETER INFECTION; CYANOCOBALAMIN DEFICIENCY; DRUG WITHDRAWAL; ECZEMA; EPILEPSY; ERYTHROCYTE TRANSFUSION; ESCHERICHIA COLI INFECTION; EXOME; EXON; FAMILY HISTORY; FEMALE; FOCAL EPILEPSY; FOLIC ACID BLOOD LEVEL; FOLIC ACID DEFICIENCY; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HEMATOPOIESIS; HEMOGLOBIN BLOOD LEVEL; HEMOLYTIC UREMIC SYNDROME; HUMAN; HUMAN TISSUE; HYPOPLASIA; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOGLOBULIN DEFICIENCY; INFANT; INTRON; KETOGENIC DIET; KIDNEY FUNCTION; LACTATE DEHYDROGENASE BLOOD LEVEL; LUNG LAVAGE; LYMPHOCYTE COUNT; LYMPHOCYTE PROLIFERATION; LYMPHOCYTE SUBPOPULATION; LYMPHOCYTOPENIA; MISSENSE MUTATION; MTHFD1 GENE; NEUROIMAGING; NEUTROPENIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCUPATIONAL THERAPY; PANCYTOPENIA; PERCEPTION DEAFNESS; PNEUMOCYSTIS JIROVECI; PNEUMOCYSTOSIS; PRIORITY JOURNAL; RENAL REPLACEMENT THERAPY; RESPIRATORY DISTRESS; RNA SPLICING; SEIZURE; SEVERE COMBINED IMMUNODEFICIENCY; SPECIAL EDUCATION; SPEECH THERAPY; STOP CODON; STREPTOCOCCUS PNEUMONIAE; TREATMENT RESPONSE; UPPER RESPIRATORY TRACT INFECTION; URINARY TRACT INFECTION; VITAMIN BLOOD LEVEL;

3-HYDROXYACYL COA DEHYDROGENASES; ANEMIA, MEGALOBLASTIC; BONE MARROW EXAMINATION; CARDIOMYOPATHIES; COMBINED MODALITY THERAPY; DNA MUTATIONAL ANALYSIS; DRUG COMBINATIONS; DRUG THERAPY, COMBINATION; EXOME; FEMALE; HETEROZYGOTE DETECTION; HUMANS; HYDROXOCOBALAMIN; IMMUNIZATION, PASSIVE; INFANT; INFANT, NEWBORN; LEUKOPENIA; LIPID METABOLISM, INBORN ERRORS; METHYLENETETRAHYDROFOLATE DEHYDROGENASE (NADP); OPPORTUNISTIC INFECTIONS; PERIPHERAL NERVOUS SYSTEM DISEASES; PNEUMONIA, PNEUMOCYSTIS; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS, DNA; SEVERE COMBINED IMMUNODEFICIENCY; SULFADOXINE; TRIMETHOPRIM; VITAMIN B 12;

EID: 84873481021     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2012-0899     Document Type: Article

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