Xiao‐Fei Kong
A5037124450- Immunodeficiency and Autoimmune Disorders
- Immune Cell Function and Interaction
- Hepatitis C virus research
- Mycobacterium research and diagnosis
- Celiac Disease Research and Management
- Immune Response and Inflammation
- Tuberculosis Research and Epidemiology
- Gastrointestinal disorders and treatments
- Liver Disease Diagnosis and Treatment
- T-cell and B-cell Immunology
- Hepatitis B Virus Studies
- interferon and immune responses
- Microscopic Colitis
- Diabetes and associated disorders
- Genomics and Rare Diseases
- Blood disorders and treatments
- Cytokine Signaling Pathways and Interactions
- Systemic Lupus Erythematosus Research
- Digestive system and related health
- Whipple's Disease and Interleukins
- Folate and B Vitamins Research
- Heme Oxygenase-1 and Carbon Monoxide
- Colorectal Cancer Screening and Detection
- Genetic factors in colorectal cancer
- Tumors and Oncological Cases
The University of Texas Southwestern Medical Center
2023-2025
Southwestern Medical Center
2023-2024
Columbia University Irving Medical Center
2019-2023
Qingdao University of Science and Technology
2022-2023
Qingdao University of Technology
2022-2023
Qingdao Center of Resource Chemistry and New Materials
2022-2023
Columbia University
2019-2023
Rockefeller University
2012-2022
Rockefeller University Hospital
2017
Université Paris Cité
2009-2016
Chronic mucocutaneous candidiasis disease (CMCD) may be caused by autosomal dominant (AD) IL-17F deficiency or recessive (AR) IL-17RA deficiency. Here, using whole-exome sequencing, we identified heterozygous germline mutations in STAT1 47 patients from 20 kindreds with AD CMCD. Previously described mutant alleles are loss-of-function and cause predisposition to mycobacterial impaired STAT1-dependent cellular responses IFN-γ. Other AR intracellular bacterial viral diseases, IFN-α/β, IFN-γ,...
The genetic analysis of human primary immunodeficiencies has defined the contribution specific cell populations and molecular pathways in host defense against infection. Disseminated infection caused by bacille Calmette-Guérin (BCG) vaccines is an early manifestation immunodeficiencies, such as severe combined immunodeficiency. In many affected persons, cause disseminated BCG disease unexplained.We evaluated infant presenting with features immunodeficiency, including early-onset disease, who...
Tuberculosis Vaccine Conundrum Some children experience severe clinical disease when they are vaccinated against tuberculosis, an attenuated live vaccine that is normally innocuous in humans. Several germline mutations have been identified account for this susceptibility, and now Bogunovic et al. (p. 1684 , published online 2 August) add another to the list— ISG15 . Uncovering mutation, which inherited autosomal recessive manner, was a surprise because studies with mice deficient showed...
Interleukin-12 receptor β1 (IL-12Rβ1) deficiency is the most common form of Mendelian susceptibility to mycobacterial disease (MSMD). We undertook an international survey 141 patients from 102 kindreds in 30 countries. Among probands, first infection occurred at a mean age 2.4 years. In 78 patients, this was caused by Bacille Calmette-Guérin (BCG; n = 65), environmental mycobacteria (EM; also known as atypical or nontuberculous mycobacteria) (n 9) Mycobacterium tuberculosis 4). Twenty-two...
Autosomal recessive, complete TYK2 deficiency was previously described in a patient (P1) with intracellular bacterial and viral infections features of hyper-IgE syndrome (HIES), including atopic dermatitis, high serum IgE levels, staphylococcal abscesses. We identified seven other TYK2-deficient patients from five families four different ethnic groups. These were homozygous for one null mutations, that seen P1. They displayed mycobacterial and/or infections, but no HIES. All eight impaired...
Significance The protein-coding exome of a patient with monogenic disease contains about 20,000 variations, which only one or two are causing. When attempting to select disease-causing candidate mutation(s), challenge is filter out as many false-positive (FP) variants possible. In this study, we describe the gene damage index (GDI), metric for nonsynonymous mutational load in each general population. We show that GDI an efficient gene-level method filtering FP genes highly damaged
Hundreds of patients with autosomal recessive, complete IL-12p40 or IL-12Rβ1 deficiency have been diagnosed over the last 20 years. They typically suffer from invasive mycobacteriosis and, occasionally, mucocutaneous candidiasis. Susceptibility to these infections is thought be due impairments IL-12-dependent IFN-γ immunity and IL-23-dependent IL-17A/IL-17F immunity, respectively. We report here IL-12Rβ2 IL-23R deficiency, lacking responses IL-12 IL-23 only, all whom, unexpectedly, display...
Complete STAT1 deficiency is an autosomal recessive primary immunodeficiency caused by null mutations that abolish STAT1-dependent cellular responses to both IFN-α/β and IFN-γ. Affected children suffer from lethal intracellular bacterial viral diseases. Here we report a form of partial deficiency, characterized impaired but not abolished IFN-γ signaling. Two affected siblings suffered severe curable Both were homozygous for missense mutation: g.C2086T (P696S). This allele the splicing mRNA,...
We report a series of 14 patients from 11 kindreds with recessive partial (RP)-interferon (IFN)-γR1 deficiency. The I87T mutation was found in nine homozygous Chile, Portugal and Poland, the V63G five Canary Islands. Founder effects accounted for recurrence both mutations. most recent common ancestors mutations probably lived 1600 (875-2950) 500 (200-1275) years ago, respectively. two alleles confer phenotypes that are similar but differ terms IFN-γR1 levels residual response to IFN-γ....
Patients carrying two loss-of-function (or hypomorphic) alleles of STAT1 are vulnerable to intracellular bacterial and viral diseases. Heterozygosity for dominant-negative mutations in is responsible autosomal dominant (AD) Mendelian susceptibility mycobacterial disease (MSMD), whereas heterozygosity gain-of-function loss-of-dephosphorylation causes AD chronic mucocutaneous candidiasis (CMC). The previously reported types MSMD-causing located the tail segment domain (p.L706S) or DNA-binding...
CMCD is a rare congenital disorder characterized by persistent or recurrent skin, nail, and mucosal membrane infections caused Candida albicans. Heterozygous GOF STAT1 mutations have been shown to confer AD as result of impaired dephosphorylation STAT1. We aimed identify characterize in patients develop simple diagnostic assay CMCD. Genetic analysis was performed their relatives. The identified were immunoblot reporter using transient gene expression experiments. Patients' leukocytes are...
Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare syndrome, the known genetic etiologies of which impair production of, or response interferon-gamma (IFN-γ). We report here patient (P1) with MSMD whose cells display mildly impaired responses IFN-γ, at levels, however, similar those from patients autosomal recessive (AR) partial IFN-γR2 STAT1 deficiency. Whole-exome sequencing (WES) and Sanger revealed only one candidate variation for both MSMD-causing IFN-γ-related genes....
Abstract Background Wilson's disease (WND) is a rare autosomal recessive disorder. Here we have evaluated 62 WND cases (58 probands) from the Chinese Han population to expand our knowledge of ATP7B mutations and more completely characterize in China. Methods The coding promoter regions gene were analyzed by direct sequencing patients with (male, n = 37; female, 25; age range, 2 ~ 61 years old). Results Neurologic manifestations associated older at diagnosis (p < 0.0001) longer diagnostic...
Patients with inherited CARMIL2 or CD28 deficiency have defective T cell signaling, but their immunological and clinical phenotypes remain largely unknown. We show that only one of three isoforms is produced functional across leukocyte subsets. Tested mutant alleles from 89 patients 52 families impair canonical NF-κB not AP-1 NFAT activation in cells stimulated via CD28. Like CD28-deficient patients, CARMIL2-deficient display recalcitrant warts low blood counts CD4+ CD8+ memory TREGs. Unlike...