Congenital alterations of NEMO glutamic acid 223 result in hypohidrotic ectodermal dysplasia and immunodeficiency with normal serum IgG levels

Annals of Allergy, Asthma and Immunology

Volumn 107, Issue 1, 2011, Pages 50-56

  Karamchandani Patel, Gital ^a   Hanson, Eric P ^b   Saltzman, Rushani ^c   Kimball, C Eve ^d   Sorensen, Ricardo U ^a   Orange, Jordan S ^c,e  

^a LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^d All About Children Pediatric Partners PC   (United States)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMIC ACID; GLUTAMIC ACID 223; I KAPPA B KINASE GAMMA; IMMUNOGLOBULIN G; LYSINE; TOLL LIKE RECEPTOR; TUMOR NECROSIS FACTOR RECEPTOR; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BACTEREMIA; CASE REPORT; CHILD; CLINICAL FEATURE; CODON; DISEASE SEVERITY; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; IMMUNE DEFICIENCY; IMMUNOGLOBULIN BLOOD LEVEL; LUNG INFECTION; MALE; METHICILLIN RESISTANT STAPHYLOCOCCUS AUREUS INFECTION; NATURAL KILLER CELL MEDIATED CYTOTOXICITY; NEMO GENE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT INFECTION; SIGNAL TRANSDUCTION; STREPTOCOCCUS ANGINOSUS; SUBDURAL EMPYEMA;

ANTIBODY SPECIFICITY; CHILD, PRESCHOOL; ECTODERMAL DYSPLASIA; HUMANS; I-KAPPA B KINASE; IMMUNOGLOBULIN G; IMMUNOGLOBULINS, INTRAVENOUS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; KILLER CELLS, NATURAL; MALE; MUTATION; RECEPTORS, TUMOR NECROSIS FACTOR; SIGNAL TRANSDUCTION; TOLL-LIKE RECEPTORS;

EID: 79959687131     PISSN: 10811206     EISSN: 15344436     Source Type: Journal    
DOI: 10.1016/j.anai.2011.03.009     Document Type: Article

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