A human immunodeficiency caused by mutations in the PIK3R1 gene

Journal of Clinical Investigation

Volumn 124, Issue 9, 2014, Pages 3923-3928

  Deau, Marie Céline ^a,b   Heurtier, Lucie ^a,b   Frange, Pierre ^c   Suarez, Felipe ^b,c   Bole Feysot, Christine ^b   Nitschke, Patrick ^b   Cavazzana, Marina ^a,b   Picard, Capucine ^b,c   Durandy, Anne ^a,b   Fischer, Alain ^a,b,c,d   Kracker, Sven ^a,b  

^a IMAGINE INSTITUTE   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d Centre de Recherche Interdisciplinaire en Biologie   (France)

Author keywords

[No Author keywords available]

Indexed keywords

2 (6 AMINO 9 PURINYLMETHYL) 5 METHYL 3 (2 METHYLPHENYL) 3H QUINAZOLIN 4 ONE; B LYMPHOCYTE RECEPTOR; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; PHOSPHATIDYLINOSITOL 3 KINASE; PHOSPHATIDYLINOSITOL 3 KINASE P110 PROTEIN; PROTEIN KINASE B; PROTEIN P85; PROTEIN P85ALPHA; TOLL LIKE RECEPTOR 9; UNCLASSIFIED DRUG; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PIK3R1 PROTEIN, HUMAN;

ADOLESCENT; ALLERGY; ARTICLE; AUTOIMMUNITY; BLOOD ANALYSIS; CASE REPORT; CD4+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CELL DEATH; CHILD; CONJUNCTIVITIS; CONTROLLED STUDY; EXOME; EXON; FEMALE; GAIN OF FUNCTION MUTATION; GENE; GENE DELETION; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOGLOBULIN DEFICIENCY; IMMUNOTHERAPY; LYMPHOBLAST; LYMPHOCYTE COUNT; LYMPHOCYTE PROLIFERATION; MALE; MEMORY CELL; NATURAL KILLER CELL; PHENOTYPE; PIK3R1 GENE; PRE B LYMPHOCYTE; PROTEIN DOMAIN; PROTEIN PHOSPHORYLATION; RECURRENT INFECTION; RESPIRATORY TRACT INFECTION; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; T LYMPHOCYTE; T LYMPHOCYTE ACTIVATION; VIRUS INFECTION; GENETICS; INFANT; LYMPHOCYTE ACTIVATION; METABOLISM; MUTATION; PHOSPHORYLATION; PHYSIOLOGY;

FEMALE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; LYMPHOCYTE ACTIVATION; MALE; MUTATION; PHOSPHATIDYLINOSITOL 3-KINASES; PHOSPHORYLATION; PROTO-ONCOGENE PROTEINS C-AKT; PTEN PHOSPHOHYDROLASE; SIGNAL TRANSDUCTION;

EID: 84907008346     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI75746     Document Type: Article

References (13)

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