A novel point mutation in CD18 causing leukocyte adhesion deficiency in a Chinese patient

Chinese Medical Journal

Volumn 123, Issue 10, 2010, Pages 1278-1282

  Li, Li ^a   Jin, Ying Ying ^a   Cao, Rui Ming ^a   Chen, Tong Xin ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

Leukocyte adhesion deficiency; Missense mutation; Molecular analysis; Primary immunodeficiency disease

Indexed keywords

ADENINE; AMOXICILLIN; ASPARTIC ACID; CD18 ANTIGEN; GAMMA INTERFERON; GENOMIC DNA; HEMOGLOBIN; IMMUNOGLOBULIN; TYROSINE; VALINE;

AMINO ACID SUBSTITUTION; ANTIGEN EXPRESSION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BACTERIAL INFECTION; BACTERIUM CULTURE; CASE REPORT; CHILD; CHINESE; CONSANGUINEOUS MARRIAGE; DEATH; DIAGNOSTIC ACCURACY; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA SEQUENCE; EARLY DIAGNOSIS; ERYTHROCYTE COUNT; EXON; FLOW CYTOMETRY; GENE MUTATION; GENETIC ANALYSIS; GENETIC CONSERVATION; GENETIC HETEROGENEITY; GENETIC SCREENING; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IMMUNE DEFICIENCY; INFLAMMATION; LABORATORY TEST; LEUKOCYTE ADHESION DEFICIENCY; LEUKOCYTE COUNT; LEUKOCYTE MIGRATION; LYMPHOCYTE COUNT; MALE; MISSENSE MUTATION; PATHOGENESIS; POINT MUTATION; PRESCHOOL CHILD; PSEUDOMONAS AERUGINOSA; PUS; RECURRENT INFECTION; RESPIRATORY FAILURE; SEPSIS; THROMBOCYTE COUNT; TREATMENT OUTCOME; WOUND HEALING IMPAIRMENT; ASIAN CONTINENTAL ANCESTRY GROUP; GENETICS; LEUKOCYTE-ADHESION DEFICIENCY SYNDROME; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION;

ANTIGENS, CD18; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FLOW CYTOMETRY; HUMANS; LEUKOCYTE-ADHESION DEFICIENCY SYNDROME; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION;

EID: 77952911122     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.0366-6999.2010.10.010     Document Type: Article

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