title: Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5 Mb deletion in 22q11.2 region.
authors.forename: Diogo Cordeiro
authors.initials: DC
authors.lastname: de Queiroz Soares
authors.forename: Roberta Lelis
authors.initials: RL
authors.lastname: Dutra
authors.forename: Caio Robledo
authors.initials: CR
authors.lastname: D'angioli Costa Quaio
authors.forename: Maria Isabel
authors.initials: MI
authors.lastname: Melaragno
authors.forename: Leslie Domenici
authors.initials: LD
authors.lastname: Kulikowski
authors.forename: Leuridan Cavalcante
authors.initials: LC
authors.lastname: Torres
authors.forename: Chong Ae
authors.initials: CA
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D001402:B-Lymphocytes / Q000276:immunology / Q000473:pathology; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics / Q000276:immunology* / Q000473:pathology; D005260:Female; D005434:Flow Cytometry; D006801:Humans; D007136:Immunoglobulins / Q000097:blood / Q000276:immunology; D016130:Immunophenotyping; D050766:Qb-SNARE Proteins / Q000235:genetics / Q000276:immunology*; D050767:Qc-SNARE Proteins / Q000235:genetics / Q000276:immunology*; D018048:Receptors, Purinergic P2 / Q000235:genetics / Q000276:immunology*; D017422:Sequence Analysis, DNA; D016176:T-Lymphocyte Subsets / Q000276:immunology / Q000473:pathology; D013601:T-Lymphocytes / Q000276:immunology / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics / Q000276:immunology*
chemical_list: D007136:Immunoglobulins; C509917:LZTR1 protein, human; D050766:Qb-SNARE Proteins; D050767:Qc-SNARE Proteins; D018048:Receptors, Purinergic P2; C432420:SNAP29 protein, human; D014157:Transcription Factors; C110590:purinoceptor P2X6