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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Monogenetic defects associated with common variable immunodeficiency (CVID)

Monogenetic defects associated with common variable immunodeficiency (CVID)
Defect Gene Inheritance Laboratory Clinical
BAFF receptor deficiency TNFRSF13C (BAFF-R) AR Low IgG and IgM Variable clinical expression
TWEAK deficiency TWEAK (TNFSF12) AD Low IgM and IgA, lack of anti-pneumococcal antibody Pneumonia, bacterial infections, warts, thrombocytopenia, neutropenia
TACI deficiency TNFRSF13B (TACI) AD, AR Low IgG and IgA and/or IgM Variable clinical expression
CD19 deficiency CD19 AR Low IgG and IgA and/or IgM Recurrent infections, may have glomerulonephritis
CD81 deficiency CD81 AR Low IgG, low or normal IgA and IgM Recurrent infections, may have glomerulonephritis
CD20 deficiency CD20 AR Low IgG, normal or elevated IgM and IgA Recurrent infections
CD21 deficiency CR2 AR Low IgG, impaired anti-pneumococcal response Recurrent infections
PIK3CD GOF PIK3CD AD Low IgG and IgA, elevated IgM Recurrent infections; decreased or absent pro-B cells, EBV and CMV
NFKB1 deficiency NFKB1 AD Normal or low IgG, IgA, IgM; low or normal B cells; low memory B cells Recurrent sinopulmonary infections, COPD, EBV proliferation, autoimmune cytopenias, alopecia, and autoimmune thyroiditis
NFKB2 deficiency NFKB2 AD Low serum IgG, IgA, and IgM; low B cell numbers Recurrent sinopulmonary infections, alopecia, and endocrinopathies
IKZF1 deficiency (IKAROS) IKZF1 AD Low IgG and IgA and/or IgM Recurrent infections, ALL
PIK3R1 deficiency PIK3R1 AD Hypogammaglobulinemia, increased IgM Recurrent infections, decreased or absent pro-B cells, EBV and CMV
IRF2BP2 deficiency IRF2BP2 AD Hypogammaglobulinemia Recurrent infections, colitis
Mannosyl-oligosaccharide glucosidase deficiency MOGS (GCS1) AR Hypogammaglobulinemia Bacterial and viral infections, severe neurologic disease, global developmental delay, hypotonia, seizures, dysmorphic features
PTEN deficiency PTEN AD Low IgG and IgA; poor antibody production Recurrent infections; Cowden's syndrome, macrocephaly
TRNT1 deficiency TRNT1 AR B cell lymphopenia; panhypogammaglobulinemia Congenital sideroblastic anemia, deafness, developmental delay
AR: autosomal recessive; AD: autosomal dominant; IgG: immunoglobulin G; IgM: immunoglobulin M; IgA: immunoglobulin A; GOF: gain of function; EBV: Epstein-Barr virus; CMV: cytomegalovirus; COPD: chronic obstructive pulmonary disease; ALL: acute lymphoblastic leukemia.
Adapted from: Picard C, Gaspar HB, Al-Herz W, et al. International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. J Clin Immunol 2018; 38:96.
Graphic 122555 Version 2.0

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