CD55deficiency, also called DAF deficiency or CHAPLE syndrome, is a rare genetic disorder of the immune system. CHAPLE stands for "CD55 deficiency with hyper-activation of complement, angiopathic thrombosis, and severe protein-losing enteropathy (PLE)."[1] The disorder usually manifests in childhood and can be life-threatening. This condition was described by Özen, et al. in 2017.[1]
^ abOzen A, Comrie WA, Ardy RC, Domínguez Conde C, Dalgic B, Beser ÖF, et al. (July 2017). "CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis". The New England Journal of Medicine. 377 (1): 52–61. doi:10.1056/NEJMoa1615887. PMC 6690356. PMID 28657829.
CD55deficiency, also called DAF deficiency or CHAPLE syndrome, is a rare genetic disorder of the immune system. CHAPLE stands for "CD55deficiency with...
antibody positive. Eculizumab has also been explored as a treatment for CD55deficiency, also known as CHAPLE syndrome, a rare genetic disorder of the immune...
CD59 deficiency. This alleviates the primary source of intravascular hemolysis, but it does not reduce the opsonization of erythrocytes caused by CD55 deficiency...
alone (type 2). Type 2 has been divided into two subtypes - a and b. Deficiency restricted to the platelets alone is known as type 2a; if CD36 is also...
by endogenous complement regulatory proteins, which include CD35, CD46, CD55 and CD59, depending on the cell. Pathogens, in general, don't have complement...
comparison with membrane cofactor protein (CD46) and decay accelerating factor (CD55)". Eur. J. Immunol. 22 (6): 1579–1585. doi:10.1002/eji.1830220635. PMID 1376264...
(ABCB6(-/-)) individuals do not suffer any clinical consequences, although their deficiency in ABCB6 may place them at risk when determining drug dosage.] Daniels...
may be a useful treatment target. Mouse model research shows that CD19 deficiency can lead to hyporesponsiveness to transmembrane signals and weak T cell...
leukocytes and endothelial cells during the immune and inflammatory responses CD55 Complement Decay-Accelerating Factor (DAF): regulatory factor in one of the...
for the positive correlation between osteoporosis and cardiovascular deficiencies. Primary tumors will commonly metastasize into the bone. Breast and prostate...
molecular imaging agent for CD46-targeted therapy has been developed. CD46 deficiency contributes to inflammation disorders. CD46 has been shown to interact...
protein is the only one in the coagulation pathway for which a congenital deficiency has not been described. In addition to the membrane-bound tissue factor...
Baars PA, Grummels A, Derks IA, Dolman KM, et al. (January 2010). "CD20 deficiency in humans results in impaired T cell-independent antibody responses"....
not undergo rearrangement. Mutations in this gene can result in B cell deficiency and agammaglobulinemia, an autosomal recessive disease in which few or...
Hickman SE, Means TK, Terada K, Geula C, Luster AD (April 2007). "Ccr2 deficiency impairs microglial accumulation and accelerates progression of Alzheimer-like...
die in utero before 10.5 days of gestation. Embryos exhibit extensive deficiencies in the development and organization of mesoderm-derived tissues and the...
lymphocyte responses in HIV-infected individuals". Journal of Acquired Immune Deficiency Syndromes and Human Retrovirology. 11 (1): 95–104. doi:10.1097/00042560-199601010-00013...
immune responses. CD18 also exists in soluble, ligand binding forms. Deficiencies in CD18 expression can lead to adhesion defects in circulating white...
PMID 16079154. Li Y, Brazzell J, Herrera A, Walcheck B (October 2006). "ADAM17 deficiency by mature neutrophils has differential effects on L-selectin shedding"...
1994). "Molecular basis for Lewis alpha(1,3/1,4)-fucosyltransferase gene deficiency (FUT3) found in Lewis-negative Indonesian pedigrees". The Journal of Biological...
main way of infecting lymphocytes allegedly leading to Acquired Immune Deficiency Syndrome. GRCh38: Ensembl release 89: ENSG00000172270 – Ensembl, May 2017...
615978 van de Vosse E, van Dissel JT, Ottenhoff TH (2009). "Genetic deficiencies of innate immune signalling in human infectious disease". The Lancet...
unresponsiveness termed "anergy". Other studies that focused on the deficiencies observed in neonatal antibody production can be due to various intrinsic...
catabolism. The expression of LAMP1 and LAMP2 glycoproteins are linked, as deficiencies in LAMP1 gene will lead to increased expression of LAMP2 glycoproteins...
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