SLC39A7 (Solute Carrier Family 39 Member 7)

In conclusion, we identified two ferroptosis-clusters with different prognoses using consensus clustering in BLCA. We also developed a ferroptosis-related prognostic signature and nomogram, which could indicate the outcome.

This study provides a foundation for further exploration of the relationship between ferroptosis and ICB response in breast cancer. In conclusion, we developed a prognostic model based on ferroptosis and infiltrated immune cells that effectively stratified breast cancer patients and demonstrated the role of SLC39A7 in breast cancer pathogenesis through the regulation of apoptosis.

Classification of genes curated by the Antibody Deficiencies GCEP (AD-GCEP) Gene Disease MOI Classification AICDA Hyper-IgM syndrome type 2 (AID deficiency) AR Definitive ATM Ataxia telangiectasia (AT) AR Definitive BLNK Agammaglobulinemia 4, autosomal recessive (BLNK-associated agammaglobulinemia) AR Definitive BTK Bruton-type agammaglobulinemia (X-linked agammaglobulinemia) XLR Definitive BTK Isolated growth hormone deficiency type III XLR Disputed CARD11 BENTA (B cell expansion with NFκB and T cell anergy) disease AD Definitive CARD11 Severe combined immunodeficiency due to CARD11 deficiency AR Definitive CARD11 Immunodeficiency 11b with atopic dermatitis (CARD11 + atopic dermatitis) AD Definitive CD19 Immunodeficiency, common variable, 3 (CD19 deficiency) AR Definitive CD79A Agammaglobulinemia 3, autosomal recessive (Ig-alpha deficiency) AR Definitive CD79B Agammaglobulinemia 6, autosomal recessive (Ig-beta deficiency) AR Definitive CR2 Immunodeficiency, common variable, 7 (CD21 deficiency) AR Definitive CTLA4 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency (CHAI) AD Definitive IGHM Autosomal recessive agammaglobulinemia 1 (Mu-heavy chain deficiency) AR Definitive IKZF1 Pancytopenia due to IKZF1 mutations; IKAROS deficiency AD Definitive IKZF1 Autoimmune disease, IKAROS defect AD Moderate LRBA Combined immunodeficiency due to LRBA deficiency; LATAIE AR Definitive NFKB1 Immunodeficiency, common variable, 12 (NFkB1 deficiency) AD Definitive NFKB2 Immunodeficiency, common variable, 10 (NFkB2 deficiency, DAVID syndrome) AD Definitive PIK3CD Immunodeficiency 14b, autosomal recessive AR Definitive PIK3CD Immunodeficiency 14 (APDS type 1; activated p110-delta syndrome, PASLI disease) AD Definitive PIK3R1 Immunodeficiency 36 (APDS type 2; gain-of-function disease in PI3K regulatory subunits) AD Definitive PIK3R1 Agammaglobulinemia 7, autosomal recessive (p85alpha subunit defect) AR Limited TNFRSF13B Immunodeficiency, common variable, 2 (TACI deficiency) AR Definitive CD40 Hyper-IgM syndrome type 3 (MONDO:0011735), CD40 deficiency AR Definitive TCF3 Autosomal agammaglobulinemia (MONDO:0011096)/(agammaglobulinemia 8B)/AD (agammaglobulinemia 8A) AR Definitive TRNT1 SIFD (sideroblastic anemia, B cell immunodeficiency, periodic fevers and developmental delay) retinitis pigmentosa with erythrocytic microcytosis AR Definitive ICOS Common variable immunodeficiency, ICOS deficiency AR Definitive IL21R Immunodeficiency 56, IL-21R deficiency AR Definitive FNIP1 FNIP1-associated syndrome, FNIP1 deficiency AR Strong SPI1 Agammaglobulinemia 10, PU.1 deficiency AD Strong IGLL1 Agammaglobulinemia 2, autosomal recessive, Ig light chain deficiency (lambda-like) AR Moderate RAC2 Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia, Rac2 deficiency (loss-of-function, LOF) and Rac2 gain-of-function (GOF) AD Strong RAC2 I mmunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia, Rac2 deficiency (loss-of-function, LOF) and Rac2 gain-of-function (GOF) AR Moderate RAC2 Neutrophil immunodeficiency syndrome, Rac2 deficiency (loss-of-function, LOF) and Rac2 gain-of-function (GOF) AD Moderate SEC61A1 SEC61A1 deficiency, plasma cell deficiency AD Moderate SLC39A7 Agammaglobulinemia 9, ZIP7 deficiency AR Moderate TOP2B B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, Hoffman syndrome AD Moderate UNG Hyper-IgM syndrome type 5, UNG deficiency AR Moderate ARHGEF1 Immunodeficiency 62, ARHGEF1 deficiency AR Limited CD81 Immunodeficiency, common variable, 6, CD81 deficiency AR Limited CTNNBL1 Common variable immunodeficiency, immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias AR Limited IGKC Recurrent infections associated with rare immunoglobulin isotypes deficiency, Ig kappa light chain deficiency AR Limited IRF2BP2 Immunodeficiency, common variable, 14, IRF2BP2 deficiency AD Limited MS4A1 Immunodeficiency, common variable, 5, CD20 deficiency AR Limited POU2AF1 Agammaglobulinemia, Bob1 deficiency AR Limited SH3KBP1 Immunodeficiency 61, CIN85 deficiency XLR Limited TNFRSF13C Immunodeficiency, common variable, 4, BAFF-R deficiency AR Limited TNFSF12 Common variable immunodeficiency, TWEAK deficiency AD Limited TNFSF13 Common variable immunodeficiency, APRIL deficiency AR Limited IL21 Common variable immunodeficiency 11, IL-21 deficiency AR Limited INO80 immunodeficiency, common variable, 1, INO80 deficiency AR Disputed AR: autosomal recessive; AD: autosomal dominant; XLR: X-linked recessive Table 3 . Genes associated with antibody deficiencies curated in collaboration with other GCEPs Gene Disease Inheritance Collaborating GCEP Classification MOGS MOGS-congenital disorder of glycosylation AR General Inborn Errors of Metabolism GCEP Definitive ATP6AP1 Congenital disorder of glycosylation type II XLR General Inborn Errors of Metabolism GCEP Limited CD40L X-linked Hyper IgM syndrome XLR SCID-CID Definitive KMT2A Wiedemann-Steiner syndrome AD Syndromic Disorders GCEP Definitive MSH6 mismatch repair cancer syndrome 1 AR Hereditary Cancer GCEP Definitive GATA2 Mono-MAC syndrome, Familial myeloid leukemia, DCML deficiency, GATA2 haploinsufficiency AD Hereditary Cancer Definitive PMS2 Mismatch repair cancer syndrome 1 AR Hereditary Cancer Definitive BLK Monogenic diabetes AD Monogenic Diabetes Refuted BRWD1 Primary Ciliary Dyskinesia (PCD) AR Motile Ciliopathy Refuted BRWD1 Agammaglobulinemia, B cell deficiency AD Transferred to AD-GCEP Limited

Mechanistically, targeted depletion of the eight genes reduced the proliferation potential of TNBC cell models, while most remarkable effects were for combined SLC39A7, TIMM13, BANF1, and MVD knockdown in conjunction with doxorubicin...Protein-Protein Interaction (PPI) network analysis of the pCR-derived gene signature identified an 87-immune gene signature highly predictive of pCR, which correlated with better OS, RFS, and distant-metastasis-free survival (DMFS) in an independent cohort of basal and, to a lesser extent, HER2+ breast cancer. Our data have identified gene signatures predicative of RD and pCR in TNBC with potential clinical implications.