Immunological loss-of-function due to genetic gain-of-function in humans: Autosomal dominance of the third kind

Current Opinion in Immunology

Volumn 32, Issue , 2015, Pages 90-105

  Boisson, Bertrand ^a   Quartier, Pierre ^b,c   Casanova, Jean Laurent ^a,b,c,d  

^a ROCKEFELLER UNIVERSITY   (United States)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVATED PHOSPHATIDYLINOSITOL 3 KINASE DELTA SYNDROME; AICARDI GOUTIERES SYNDROME; ALLELE; ALLERGY; ANHIDROTIC ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY; AUTOINFLAMMATION; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL DOMINANT PRIMARY IMMUNODEFICIENCY; BLAU SYNDROME; CHRONIC GRANULOMATOUS DISEASE; CINCA SYNDROME; GAIN OF FUNCTION MUTATION; HEMOLYTIC UREMIC SYNDROME; HEREDITARY POLYCLONAL B CELL LYMPHOCYTOSIS SPLENOMEGALY AND LYMPHADENOPATHY; HETEROZYGOSITY; HUMAN; IMMUNE DEFICIENCY; IMMUNOREGULATION; INFANTILE ONSET MULTISYSTEM AUTOIMMUNE DISEASE; INFANTILE ONSET STING ASSOCIATED VASCULOPATHY; INFECTION; INFLAMMATION; LOSS OF FUNCTION MUTATION; MACROPHAGE ACTIVATION SYNDROME; MUCOCUTANEOUS CANDIDIASIS; NONHUMAN; PAPA SYNDROME; PHENOTYPE; PLCG2 ASSOCIATED ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION; PSORIASIS; REVIEW; SEVERE COMBINED IMMUNODEFICIENCY; WARTS HYPOGAMMAGLOBULINEMIA INFECTIONS AND MYELOKATHEXIS; X CHROMOSOME RECESSIVE INHERITANCE; ANIMAL; AUTOIMMUNITY; DOMINANT GENE; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; HYPERSENSITIVITY; IMMUNOLOGY; METABOLISM;

ANIMALS; AUTOIMMUNITY; GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERSENSITIVITY; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFECTION; INFLAMMATION;

EID: 84921870596     PISSN: 09527915     EISSN: 18790372     Source Type: Journal    
DOI: 10.1016/j.coi.2015.01.005     Document Type: Review

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