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 |
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