Granulomatous Disease With Defect In Neutrophil Chemotaxis

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

CYBB, CYBA, NCF1, G6PD, CYBC1, NCF4, NCF4-AS1, CYTB, NCF2, DECR1, IFNG, DUOX2, DUOX1, CAT, CD34, ADA, IL1B, IL1A, NOX1, PLB1, PLN, CSF3, POLR3E, IL17A, CD27, LRBA, PPARG, EFS, NSFL1C, ROS1

CYBB, CYBA, NCF1, G6PD, CYBC1, NCF4, NCF4-AS1, CYTB, NCF2, DECR1, IFNG, DUOX2, DUOX1, CAT, CD34, ADA, IL1B, IL1A, NOX1, PLB1, PLN, CSF3, POLR3E, IL17A, CD27, LRBA, PPARG, EFS, NSFL1C, ROS1, CLEC11A, SRY, ING1, PLEK, MTOR, H3P37, CXCL8, IL4, AKAP13, ATN1, TNF, DCTN3, CHP1, PHB2, CRP, TBC1D9, SETBP1, TNFRSF13B, NOX3, ACAD8, ESR1, IRAK4, TLR9, NCF1C, AR, MIR33A, MIR223, BDNF, TNFRSF13C, NLRP3, ELOF1, CLPB, MS4A1, NOX5, NOD2, PRDM16, DHX37, KRT20, TNFSF13B, TLR5, TNFSF15, IL18, DYNC1H1, MPO, KMT2A, LAMP1, KCNMA1, ITGB2, IL10, DMD, EFNA2, ELF1, HLA-DPB1, GCLM, GCLC, EMP1, MYD88, NGF, CXCL14, REST, PLA2G6, XK, WARS1, TLR2, STAT1, SAA1, RAP1A, OTC, PRF1, CSF2, PIK3CD, SERPINA1, ABCB1, OTX2, AAVS1

Drugs

Autologous CD34+ cells transduced with retroviral vector containing the human gp91 (phox) gene, Autologous haematopoietic cells genetically modified with a lentiviral vector containing the human gp91(phox) gene, Interferon gamma 1a ( IMUNOMAX ), Interferon gamma 1b ( ACTIMMUNE, IMUKIN ), T-Cell Depleted Stem Cell Enriched Cellular Product From Peripheal Blood Stem Cells

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Clark and Klebanoff (1978) described a brother and sister, aged 24 and 20, respectively, with recurrent staphylococcal infections with predominantly cutaneous involvement. Neutrophils showed normal phagocytosis but impaired killing of staphylococci and absence of a phagocytic metabolic burst as assessed by eight functions. The mother's neutrophils functioned normally. Both patients showed, unexpectedly, marked impairment of chemotactic responses of their neutrophils and in the level of chemotactic activity generated in their serum by activation of the complement system. Furthermore, their serum contained an inhibitor of chemotactic response by normal neutrophils. Tauber (1981) gave a useful analysis of neutrophil dysfunction, dividing disorders into those of each of the 4 behaviors or functions of the neutrophil: chemotaxis, phagocytosis, degranulation, and oxidative metabolism. A profound chemotactic defect occurs with C3 deficiency (613779). Disorders of granule function include absent enzymes and abnormal granule formation. Tauber (1981) stated that 12 patients with myeloperoxidase deficiency (254600) have been reported; recurrent Candida infections are characteristic. Tauber (1981) reviewed the evidence indicating the genetic heterogeneity of chronic granulomatous disease.