Spectrum of Phenotypes Associated with Mutations in LRBA

Journal of Clinical Immunology

Volumn 36, Issue 1, 2016, Pages 33-45

  Alkhairy, Omar K ^a,b   Abolhassani, Hassan ^a,c   Rezaei, Nima ^c,d   Fang, Mingyan ^a,e   Andersen, Kasper Krogh ^a   Chavoshzadeh, Zahra ^f   Mohammadzadeh, Iraj ^g   El Rajab, Mariam A ^h   Massaad, Michel ⁱ   Chou, Janet ⁱ   Aghamohammadi, Asghar ^c   Geha, Raif S ⁱ   Hammarström, Lennart ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^c TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^e BGI SHENZHEN   (China)

^f SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^g BABOL UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^h MAKASSED GENERAL HOSPITAL   (Lebanon)

ⁱ BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

apoptosis; autoimmune disease (AID); autophagy; chronic diarrhea (CD); common variable immunodeficiency (CVID); cytotoxic T lymphocyte associated protein 4 (CTLA4); hypogammaglobulinemia (HGG); lipopolysaccharide responsive beige like anchor protein (LRBA); organomegaly (OM); Primary immunodeficiency disorders (PID); regulatory T cells (Treg)

Indexed keywords

CELL PROTEIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN M; LIPOPOLYSACCHARIDE RESPONSIVE BEIGE LIKE ANCHOR PROTEIN; UNCLASSIFIED DRUG; LRBA PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ABNORMAL LABORATORY RESULT; AUTOIMMUNITY; CLINICAL FEATURE; GENETIC ASSOCIATION; GERMLINE MUTATION; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOPATHOGENESIS; LIPOPOLYSACCHARIDE RESPONSIVE BEIGE LIKE ANCHOR PROTEIN DEFICIENCY; LYMPHOPROLIFERATIVE DISEASE; MEMORY CELL; MOLECULAR GENETICS; MOLECULAR PATHOLOGY; NEUROLOGIC DISEASE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; RESPIRATORY TRACT DISEASE; REVIEW; T LYMPHOCYTE; ADOLESCENT; ADULT; ANIMAL; AUTOPHAGY; CASE REPORT; CHILD; CONSANGUINITY; FATALITY; FEMALE; GENETICS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; MALE; METABOLISM; MUTATION; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; RESPIRATORY INSUFFICIENCY; YOUNG ADULT;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; ANIMALS; AUTOIMMUNITY; AUTOPHAGY; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; FATAL OUTCOME; FEMALE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; MALE; MUTATION; PEDIGREE; PHENOTYPE; RESPIRATORY INSUFFICIENCY; YOUNG ADULT;

EID: 84958178316     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-015-0224-7     Document Type: Review

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