Potential protein–phenotype correlation in three lipopolysaccharideresponsive beige-like anchor protein-deficient patients

BACKGROUND Patients with lipopolysaccharide(LPS)-responsive beige-like anchor protein(LRBA)deficiency have a variety of clinical symptoms,but there is no apparent genotype–phenotype correlation,and patients carrying the same mutations may have different phenotypes.Therefore,it is not easy for doctors to make a decision regarding hematopoietic stem cell transplantation(HSCT)for LRBA-deficient patients.We hypothesized that there may be a protein–phenotype correlation to indicate HSCT for LRBA-deficient patients.AIM To report on three Chinese LRBA-deficient patients and determine the correlation between residual protein expression and disease phenotypes.METHODS Clinical data of three Chinese LRBA-deficient patients were collected,and protein levels were detected by Western blot analysis.In addition,LRBA mutation information of another 83 previously reported patients was summarized.RESULTS All the major clinical findings indicated enteropathy,but patients 1 and 3 presented with more severe symptoms than patient 2.Endoscopy and histology indicated nonspecific colitis for patients 1 and 3 but Crohn's disease-like colitis for patient 2.Compound heterozygous mutations in LRBA were found in patient 1,and homozygous mutations in LRBA were found in patient 2 and patient 3.Only patient 2 responded well to traditional immunosuppressive treatment.Residual expression of the LRBA protein in patients 1 and 3 was very low,but in patient 2,a more than 0.5-fold in expression of the LRBA protein was found compared to that in the control.After HSCT,patient 1 had increased LRBA protein expression.We summarized the genetic information of 86 patients,and the mutations in patients 1 and 3 were novel mutations.CONCLUSION We described three Chinese LRBA-deficient patients,two of whom carried novel mutations.These patients had no genotype-phenotype correlations,but their residual LRBA protein expression might be associated with disease outcome and could be an indicator for HSCT.

Stability of NiCrAlY coating/titanium alloy system under pure thermal exposure

In this paper,NiCrAlY coating was deposited on TC4 titanium alloy using arc ion plating,and the stability of NiCrAlY coating/TC4 substrate system under pure thermal exposure was analyzed in a wide temperature range.During the thermal exposure,β→γ′→γphase transformation takes place in the NiCrAlY coating.The NiCrAlY coating phases totally decompose above the allotropic transformation temperature of TC4.The allotropic transformation ofα-Ti to β-Ti of the substrate significantly influences the stability of NiCrAlY coating/TC4 substrate system.NiCrAlY coating elements are mainly consumed by interfacial reactions below the allotropic transformation temperature of TC4.Above the allotropic transformation temperature of TC4,NiCrAlY coating elements are mainly consumed by element dissolution in β-Ti.The NiCrAlY coating totally degrades for the dissolution of coating elements in the substrate to form thickβ-Ti stabilized layer.