A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency

Journal of Allergy and Clinical Immunology

Volumn 134, Issue 6, 2014, Pages 1375-1380

  Abolhassani, Hassan ^a,b   Wang, Ning ^a   Aghamohammadi, Asghar ^b   Rezaei, Nima ^b   Lee, Yu Nee ^c   Frugoni, Francesco ^c   Notarangelo, Luigi D ^c   Pan Hammarström, Qiang ^a   Hammarström, Lennart ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Common variable immunodeficiency; differential diagnosis; granulomatous lesion; mismanagement; recombination activation genes

Indexed keywords

RAG1 PROTEIN; HOMEODOMAIN PROTEIN; RAG-1 PROTEIN;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CLINICAL EVALUATION; CLINICAL FEATURE; COMMON VARIABLE IMMUNODEFICIENCY; EXOME; GENE MAPPING; GENE SEQUENCE; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; IMMUNOASSAY; LIVER GRANULOMA; MALE; MARGINAL ZONE LYMPHOMA; NEUTROPENIA; PROTEIN FUNCTION; WILD TYPE; B CELL LYMPHOMA; GENETICS; GRANULOMA; IMMUNOLOGY; LIVER DISEASE; MUTATION; PHENOTYPE;

ADOLESCENT; COMMON VARIABLE IMMUNODEFICIENCY; GRANULOMA; HOMEODOMAIN PROTEINS; HUMANS; LIVER DISEASES; LYMPHOMA, B-CELL; MALE; MUTATION; NEUTROPENIA; PHENOTYPE;

EID: 84919843125     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2014.04.042     Document Type: Article

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