John I Gallin, Steven Holland, Author at Endocrinology Advisor

John I Gallin, Steven Holland

All articles by John I Gallin, Steven Holland

Toll-like receptor signaling defects

Toll-like receptor signaling defects What every physician needs to know: This chapter discusses Toll-like receptor signaling defects (interleukin-1 receptor-associated kinase 4 [IRAK-4], myeloid differentiation primary response gene [88] [MYD88], NF-kappa-B essential modulator [NEMO]). Signal transduction both to generate and to perpetuate inflammation requires the activation of nuclear factor kappa B (NFkB). Therefore, defects along this…

Miscellaneous disorders affecting neutrophils and other immune cells or arising in the differential diagnosis of infection

Miscellaneous disorders affecting neutrophils and other immune cells or arising in the differential diagnosis of infection What every physician needs to know: Miscellaneous disorders affecting neutrophils and other immune cells or arising in the differential diagnosis of infection: WHIM: warts, hypogammaglobulinemia, infections, and myelokathexis syndrome (CXCR-4 [fusin] mutation – This is a disease associated with…

Neutrophil specific granule deficiency

Neutrophil specific granule deficiency What every physician needs to know: Neutrophil specific granule deficiency (SGD) is most commonly caused by mutations in Ccaat-enhancer-binding proteins (C/EBP) epsilon, an early neutrophil transcription factor. It leads to defects in neutrophil secondary granule formation as well as deficiency of defensins, primary granule proteins that exert potent antibacterial activity. Patients…

Myeloperoxidase deficiency

Myeloperoxidase deficiency What every physician needs to know: Myeloperoxidase (MPO) catalyzes the conversion of hydrogen peroxide to hypohalous acid (bleach in the neutrophil where the halide is chloride). MPO deficiency is the most common phagocyte defect, but causes very little in the way of clinical disease. Are you sure your patient has myeloperoxidase deficiency? What…

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