OBJECTIVE: To explore the genetic basis for an individual with a para-Bombay phenotype. METHODS: A proband with mismatched forward and reverse serotypes for the ABO blood group was identified. Weakly expressed ABH blood type antigen on the surface of red blood cells was verified by absorption and release test, and the blood group substances in saliva was detected by sialic acid test. Exons 6 and 7 of the ABO gene and exons of the FUT1 and FUT2 genes were subjected to direct sequencing. RESULTS: The proband was found to be of O type by forward ABO serotyping and AB type by reverse ABO serotyping, though H and substance A and B were detected in her saliva. DNA sequencing revealed that she has harbored c.35C/T, c.328G/A, and c.504delC compound heterozygous variants of the FUT1 gene. Haploid analysis showed that her FUT1 genotype was h328A/h35T+504delC, which has been uploaded to the NCBI website (No. MW323551). CONCLUSION The para-Bombay phenotype of the proband may be attributed to the novel compound heterozygous variants including c.504delC of the FUT1 gene, which may affect its function by altering the activity of FUT1 glycotransferase.
ABO Blood-Group System/genetics* ; Alleles ; China ; Female ; Fucosyltransferases/genetics* ; Genotype ; Humans ; Phenotype

OBJECTIVETo study a case with weak D59 phenotype identified among ethnic Han Chinese population.

METHODSRoutine serological tests were used to analyze the reaction patterns, and the RhD epitopes were verified with 12 monoclonal antibodies. Sequence-specific primer PCR was applied for typing the weak RhD and RhD zygosity in the proband and his family members.

RESULTSA c.1148T>C variant was identified in the proband, for which serological test indicated a weak D phenotype. RHD zygosity testing confirmed that the proband had a RHD+ /RHD- genotype.

CONCLUSIONA weak D59 phenotype was firstly identified in a Chinese individual.

Asian Continental Ancestry Group ; genetics ; China ; ethnology ; Humans ; Male ; Middle Aged ; Phenotype ; Rh-Hr Blood-Group System ; genetics

Objective To discuss the therapeutic significance of granulocyte colony stimulating factor (G-CSF) in the treatment of invasive Candida infections in congenital immunodeficiency,especially in cases with low level of interleukin 17(IL-17). Methods Therapeutic processes of 2 children suffering from invasive Candida infections secondary to congenital immunodeficiency were retrospectively studied,further-more,the related literatures were also reviewed. Results Whole-exome sequencing revealed CARD9 muta-tion in the first patient, who suffered from Candida albicans meningoencephalitis, while the other patient revealed STAT1 mutation suffering from recurrent lung abscess caused by Candida albicans,and both of them showed low level of blood IL-17. Routine antifungal drugs were insufficiency,even treatment period had pro-longed for several months. But after the G-CSF adjuvant therapy,their symptoms,signs and images recov-ered. With 5 to 10 months follow-up,no recurrent infections were found. Conclusion Antifungal drugs com-bined with G-CSF can effectively improve the treatment effect in invasive fungal infections secondary to immunodeficiency. Further more,genetic screening especially whole-exome sequencing can be suggested to find unusual immunodeficiency,which helps more individualized treatment.