Diffuse panbronchiolitis: A case report from a Chinese consanguineous marriage family and literature review

Diffuse panbronchiolitis (DPB) is a chronic diffuse airway inflammatory disease, which is strongly associated with the class I human leukocyte antigen (HLA) alleles. Here, we report a pair of sisters who have been suffering from chronic cough, expectoration and wheezing for many years. They were previously misdiagnosed as chronic bronchitis and bronchial asthma, and were recently diagnosed as diffuse panbronchiolitis. The 36-year-old elder sister suffered from diffuse panbronchiolitis complicated with pulmonary tuberculosis. The 30-year-old younger sister suffered from diffuse panbronchiolitis complicated with bronchial asthma and bronchiectasis. We have performed HLA genotyping research on the two sisters, their parents and younger brother. The results showed that all family members were positive for HLA-A24 and HLA-B13. The younger sister and mother were positive for HLA-A2. The younger brother and father were positive for HLA-A11. We suspect that the two sisters’ disease susceptibility may be caused by their parents’ consanguineous marriage. In this study, we reported the clinical characteristics of the two sisters with diffuse panbronchiolitis and shared the associated HLA genotyping results of this family cluster, hoping to provide reference for the etiology, diagnosis and treatment of this disease.

Download Full-text

Cardiac Manifestations of Seronegative Spondyloarthropathy in a Human Leukocyte Antigen B27–Positive African American Woman: A Case Report With Literature Review

CASE ◽

10.1016/j.case.2019.05.001 ◽

2019 ◽

Vol 3 (5) ◽

pp. 239-243

Author(s):

Olisaemeka Achike ◽

Adeyemi Taiwo ◽

Rajasekhar Nekkanti ◽

Constantin Bogdan Marcu

Keyword(s):

African American ◽

Case Report ◽

Literature Review ◽

Human Leukocyte Antigen ◽

African American Woman ◽

American Woman ◽

Human Leukocyte ◽

Seronegative Spondyloarthropathy ◽

Leukocyte Antigen ◽

Cardiac Manifestations

Download Full-text

Whole-exome sequencing and human leukocyte antigen analysis in familial myasthenia gravis with thymoma: case report and literature review

Clinical Neurology and Neurosurgery ◽

10.1016/j.clineuro.2021.106864 ◽

2021 ◽

pp. 106864

Author(s):

Yoshitsugu Nakamura ◽

Hidenori Sato ◽

Yuki Miyano ◽

Ryoko Murakami ◽

Mikiko Motoki ◽

...

Keyword(s):

Case Report ◽

Literature Review ◽

Myasthenia Gravis ◽

Human Leukocyte Antigen ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Human Leukocyte ◽

Leukocyte Antigen ◽

Whole Exome

Download Full-text

Duvelisib as bridge to allotransplantation in refractory peripheral T-cell lymphoma with T-follicular helper phenotype: case report

Tumori Journal ◽

10.1177/03008916211027219 ◽

2021 ◽

pp. 030089162110272

Author(s):

Ginevra Lolli ◽

Beatrice Casadei ◽

Cinzia Pellegrini ◽

Lisa Argnani ◽

Federica Cocito ◽

...

Keyword(s):

Case Report ◽

T Cell ◽

Human Leukocyte ◽

Complete Response ◽

Unrelated Donor ◽

Phosphatidylinositol 3 Kinase ◽

Leukocyte Antigen ◽

Follicular Helper ◽

T Cell Lymphomas ◽

T Cell Malignancies

Objective: Peripheral T-cell lymphomas (PTCLs) are a group of heterogeneous T-cell malignancies representing 5%–10% of aggressive lymphomas. The prognosis is poor for patients with relapsed/refractory (R/R) disease, with a median overall survival of less than 6 months and no standardized treatments. We discuss the role of the phosphatidylinositol 3-kinase (PI3K) γδ inhibitor duvelisib as bridge to allotransplantation in a patient with R/R PTCL. Methods: Case report. Results: A 55-year-old woman diagnosed with relapsed nodal PTCL with T-follicular helper phenotype received PI3K γδ inhibitor duvelisib in the context of the phase II PRIMO clinical trial. After two cycles at a dose of 75 mg twice daily, the patient achieved complete response (CR), which was subsequently consolidated with human leukocyte antigen fully matched unrelated donor allotransplantation. No major toxicities were recorded during the duvelisib treatment period or during hospitalization for allotransplantation. At the latest follow-up, the patient was alive and still in CR 10 months posttransplant. Conclusions: Duvelisib should be further explored as a bridge to allotransplantation in patients with R/R PTCL, given the success and low toxicity in our patient.

Download Full-text

Ameloblastic fibro-odontoma in a child patient: case report and literature review

Research Society and Development ◽

10.33448/rsd-v10i2.12430 ◽

2021 ◽

Vol 10 (2) ◽

pp. e26610212430

Author(s):

Gustavo Zanna Ferreira ◽

Carolina Ferrairo Danieletto-Zanna ◽

Liogi Iwaki Filho ◽

Rômulo Maciel Lustosa ◽

Willian Pecin Jacomacci ◽

...

Keyword(s):

Case Report ◽

Literature Review ◽

Bone Regeneration ◽

Clinical Characteristics ◽

Patient Case ◽

Lesion Pattern ◽

Local Bone ◽

Ameloblastic Fibroma ◽

Child Patient

The ameloblastic fibro-odontoma (AFO) is a mixed odontogenic tumor, with characteristics of ameloblastic fibroma, presenting enamel and dentin, which occurs more frequently in individuals aged 5 to 17 years. This paper reports na extensive case of ameloblastic fibro-odontoma in the mandible of a 3-year-old patient, discussed in comparison to cases selected from a brief literature review on the clinical characteristics, Evolution and therapeutic options for this lesion. In the last years, there was no consensus in the literature concerning its etiopathogenesis and classification, yet recently the AFO was classified as a developing odontoma. This case is in accordance with the 7 cases reported in the literature of AFO in the mandible of children aged 10 years or younger, especially concerning the lesion pattern and evolution and treatment adopted. The patient did not present relapse and exhibited local bone regeneration at the 3-year follow-up.

Download Full-text

Karyomapping (KM) as a universal preimplantation genetic diagnosis (PGD) for beta-globin gene (HBB) mutations combined with human leukocyte antigen (HLA) genotyping: a proof-of-principle study

Fertility and Sterility ◽

10.1016/j.fertnstert.2013.07.1349 ◽

2013 ◽

Vol 100 (3) ◽

pp. S198

Author(s):

S. Coskun ◽

W. Qubbaj ◽

S. AlHassan ◽

S. Natesan ◽

K. Awratani ◽

...

Keyword(s):

Human Leukocyte Antigen ◽

Preimplantation Genetic Diagnosis ◽

Globin Gene ◽

Genetic Diagnosis ◽

Human Leukocyte ◽

Beta Globin ◽

Leukocyte Antigen ◽

Beta Globin Gene ◽

Hla Genotyping ◽

Proof Of Principle

Download Full-text

HLA-B*15:01 is associated with asymptomatic SARS-CoV-2 infection

10.1101/2021.05.13.21257065 ◽

2021 ◽

Author(s):

Danillo G Augusto ◽

Tasneem Yusufali ◽

Noah D Peyser ◽

Xochitl Butcher ◽

Gregory M Marcus ◽

...

Keyword(s):

Critical Role ◽

Human Leukocyte ◽

Asymptomatic Infection ◽

Baseline Survey ◽

Symptomatic Infection ◽

Symptomatic Disease ◽

Leukocyte Antigen ◽

Hla Genotyping ◽

Asymptomatic Individuals ◽

Test Result

Background. Evidence has shown that a large proportion of SARS-CoV-2 infected individuals do not experience symptomatic disease. Owing to its critical role in immune response, we hypothesized that variation in the human leukocyte antigen (HLA) loci may underly asymptomatic infection. Methods. We enrolled 29,947 individuals registered in the National Marrow Donor Program for whom high-resolution HLA genotyping data were available in a smartphone-based study designed to track COVID-19 symptoms and outcomes. Among 21,893 individuals who completed the baseline survey, our discovery (N=640) and replication (N=788) cohorts were comprised of self-identified White subjects who reported a positive test result for SARS-CoV-2. We tested for association of five HLA loci (HLA-A, -B, -C, -DRB1, -DQB1) with asymptomatic vs. symptomatic infection. Results. HLA-B*15:01 was significantly increased in asymptomatic individuals in the discovery cohort compared to symptomatic (OR = 2.45; 95%CI 1.38-4.24, p = 0.0016, pcorr = 0.048), and we reproduced this association in the replication cohort (OR= 2.32; 95%CI = 1.10-4.43, p = 0.017). We found robust association of HLA-B*15:01 in the combined dataset (OR=2.40 95% CI = 1.54-3.64; p = 5.67 x10-5) and observed that homozygosity of this allele increases more than eight times the chance of remaining asymptomatic after SARS-CoV-2 infection (OR = 8.58, 95%CI = 1.74-34.43, p = 0.003). Finally, we demonstrated the association of HLA-B*15:01 with asymptomatic SARS-Cov-2 infection is enhanced by the presence of HLA-DRB1*04:01 Conclusion. HLA-B*15:01 is strongly associated with asymptomatic infection with SARS-CoV-2 and is likely to be involved in the mechanism underlying early viral clearance.

Download Full-text