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Med Arch. 2022 Dec;76(6):476-479. doi: 10.5455/medarh.2022.76.476-479.

ABSTRACT

BACKGROUND: Autosomal dominant hyper immunoglobulin IgE syndrome is a rare inherited condition that causes immune suppression.

OBJECTIVE: This case report describes a severe case of liver abscess, caused by a cavity-forming infection, secondary to Job’s syndrome.

CASE PRESENTATION: A 25-year-old female patient was emergently referred to the surgical department, for the evaluation of acute, right-sided, upper abdominal pain, fever, and chills. The patient reported a past history of recurrent pulmonary infections as well as a prior diagnosis of Job’s syndrome. An abdominal CT scan revealed a large intrahepatic cystic mass, consistent with a hepatic abscess on the right liver lobe. The patient was started on a course of antibiotics and was admitted to the surgical ward for further treatment. After much deliberation, a multidisciplinary team comprised of general surgeons, gastroenterologists, and interventional radiologists, decided upon the guided drainage of the abscess. Two pigtail catheters were used to drain the cavities. Antibiotic use was de-escalated, the patient gradually recovered, and the reported abscesses were greatly reduced in size. After 14 days of treatment, the patient was successfully released home.

CONCLUSION: In patients with a known history of the autosomal dominant hyper-IgE syndrome, presenting with acute abdominal pain, the liver abscess must be on the top of the differential diagnosis list.

PMID:36937610 | PMC:PMC10019861 | DOI:10.5455/medarh.2022.76.476-479

Allergy Asthma Clin Immunol. 2023 Mar 20;19(1):23. doi: 10.1186/s13223-023-00775-6.

ABSTRACT

BACKGROUND: Selective IgA deficiency (SIgAD) is the most prevalent inborn errors of immunity with almost unknown etiology. This study aimed to investigate the clinical diagnostic and prognostic values of lymphocyte subsets and function in symptomatic SIgAD patients.

METHODS: A total of 30 available SIgAD patients from the Iranian registry and 30 age-sex-matched healthy controls were included in the present study. We analyzed B and T cell peripheral subsets and T cell proliferation assay by flow cytometry in SIgAD patients with mild and severe clinical phenotypes.

RESULTS: Our results indicated a significant increase in naïve and transitional B cells and a strong decrease in marginal zone-like and switched memory B-cells in SIgAD patients. We found that naïve and central memory CD4⁺ T cell subsets, as well as Th1, Th2 and regulatory T cells, have significantly decreased. On the other hand, there was a significant reduction in central and effector memory CD8⁺ T cell subsets, whereas proportions of both (CD4⁺ and CD8⁺) terminally differentiated effector memory T cells (T_EMRA) were significantly elevated in our patients. Although some T cell subsets in severe SIgAD were similar, a decrease in marginal-zone and switched memory B cells and an increase in CD21^low B cell of severe SIgAD patients were slightly prominent. Moreover, the proliferation activity of CD4⁺ T cells was strongly impaired in SIgAD patients with a severe phenotype.

CONCLUSION: SIgAD patients have varied cellular and humoral deficiencies. Therefore, T cell and B cell assessment might help in better understanding the heterogeneous pathogenesis and prognosis estimation of the disease.

PMID:36941677 | DOI:10.1186/s13223-023-00775-6

Int J Emerg Med. 2023 Mar 20;16(1):21. doi: 10.1186/s12245-023-00496-y.

ABSTRACT

BACKGROUND: Salmonella species are a leading cause of diarrheal diseases worldwide. Recent epidemiological studies have shown that Salmonella schwarzengrund (S. schwarzengrund) is highly prevalent in various regions. Herein, we report that S. schwarzengrund caused sacroiliac joint (SIJ) infection with septic shock in a young woman, although she was immunocompetent.

CASE PRESENTATION: A 20-year-old woman presented with left hip pain, accompanied by vasopressor-requiring hypotension. Her imaging examinations showed fluid collection in her SIJ and a small abscess in the left iliac muscle. Later, the blood and aspiration fluid culture and genetic analysis revealed the presence of S. schwarzengrund. We diagnosed sacroiliac joint (SIJ) infection with septic shock caused by S. schwarzengrund. Her condition improved after performing several interventional radiology (IVR) procedures for SIJ abscesses and providing appropriate antibiotic treatment. Finally, she was discharged without any sequelae. Screening tests and genetic analysis about her immunodeficiency did not indicate a congenital disorder.

CONCLUSION: These clinical courses indicate that S. schwarzengrund could cause the fatal SIJ infection irrespective of the host immunocompetence. Considering the recent increase in the diagnostic rate of S. schwarzengrund, this case emphasized the need to be more cautious about Salmonella species infection.

PMID:36941606 | DOI:10.1186/s12245-023-00496-y

J Clin Immunol. 2023 Mar 21. doi: 10.1007/s10875-023-01464-0. Online ahead of print.

ABSTRACT

PURPOSE: This study assessed whether measuring immunoglobulin G (IgG) from dried blood spots (DBSs) using nephelometry is a suitable remote monitoring method for patients with primary immunodeficiencies (PID).

METHODS: Patients receiving immunoglobulin replacement therapy for PID were included in this non-interventional single-arm study (DRKS-ID: DRKS00020522) conducted in Germany from December 4, 2019, to December 22, 2020. Three blood samples, two capillary DBSs (one mail-transferred and the other direct-transferred to the laboratory), and one intravenous were collected from each patient. IgG levels were determined using nephelometry. IgG levels were summarized descriptively, and significant differences were assessed using Wilcoxon matched-pairs signed-rank tests. Correlation and agreement between IgG levels were assessed using Spearman correlation and Bland-Altman analyses, respectively.

RESULTS: Among 135 included patients, IgG levels measured from DBS samples were lower than those measured in serum (p < 0.0001). There was no significant difference between IgG levels in direct- and mail-transferred DBS samples. There was a high degree of correlation between IgG levels in serum samples and DBS samples (r = 0.94-0.95). Although there was a bias for higher levels of IgG in serum than in DBS samples, most samples were within the 95% interval of agreement. There was a high degree of correlation between IgG levels measured in direct- and mail-transferred DBS samples (r = 0.96) with no bias based on the shipment process and most samples within the 95% interval of agreement.

CONCLUSION: Monitoring IgG levels from DBS samples is a suitable alternative to the standard method, and results are not substantially affected by mailing DBS cards.

PMID:36941491 | DOI:10.1007/s10875-023-01464-0

Immunol Res. 2023 Mar 18. doi: 10.1007/s12026-023-09365-5. Online ahead of print.

ABSTRACT

According to Elie Metchnikoff, an originator of modern immunology, several pivotal functions for disease and health are provided by indigenous microbiota. Nonetheless, important mechanistic insights have been elucidated more recently, owing to the growing availability of DNA sequencing technology. There are 10 to 100 trillion symbiotic microbes (such as viruses, bacteria, and yeast) in each human gut microbiota. Both locally and systemically, the gut microbiota has been demonstrated to impact immune homeostasis. Primary B-cell immunodeficiencies (PBIDs) are a group of primary immunodeficiency diseases (PIDs) referring to the dysregulated antibody production due to either intrinsic genetic defects or failures in functions of B cells. Recent studies have found that PBIDs cause disruptions in the gut’s typical homeostatic systems, resulting in inadequate immune surveillance in the gastrointestinal (GI) tract, which is linked to increased dysbiosis, which is characterized by a disruption in the microbial homeostasis. This study aimed to review the published articles in this field to provide a comprehensive view of the existing knowledge about the crosstalk between the gut microbiome and PBID, the factors shaping the gut microbiota in PBID, as well as the potential clinical approaches for restoring a normal microbial community.

PMID:36933165 | DOI:10.1007/s12026-023-09365-5

BMJ Case Rep. 2023 Mar 17;16(3):e253878. doi: 10.1136/bcr-2022-253878.

ABSTRACT

We report the case of a woman in her early 20s with a history of recurrent infection, atopic dermatitis, filariasis and bilateral purulent ear discharge since childhood with tonsillar enlargement on examination. She was started on supportive care and evaluated for primary immunodeficiency disease. Blood investigations revealed increased IgM levels with reduced IgG, IgA and IgE levels. Radiological imaging of the chest revealed bilateral bronchiectasis. Otoscopic examination showed features suggestive of chronic suppurative otitis media. Next-generation sequencing identified homozygous single base pair deletion in exon 2 of the activation-induced cytidine deaminase gene. Thus, a diagnosis of hyper-IgM syndrome type 2 was confirmed. The patient was started on monthly intravenous immunoglobulin replacement therapy and is currently symptomatically better, and she remains under regular follow-up.

PMID:36931691 | DOI:10.1136/bcr-2022-253878

Sci Rep. 2023 Mar 17;13(1):4449. doi: 10.1038/s41598-023-31493-z.

ABSTRACT

Immunogenic cell death (ICD) is the trigger of adaptive immune responses. However, the role of ICD-related genes in clear cell renal carcinoma (ccRCC) remains unclear. We aimed to identify biomarkers associated with ICD and develop an ICD-related predictive model that predicts the immune microenvironment, prognosis, and response to immunotherapy in ccRCC. Our study included 739 patients (603 in the training set and 136 in the validation set) with clinicopathologic information and transcriptome sequencing data. Consensus clustering, principal component analysis (PCA), weighted gene co-expression network analysis (WGCNA), univariate COX analysis, multivariate COX analysis, and the Lasso-Cox algorithm were applied to shrink predictors and construct a predictive signature of overall survival (OS). We used CIBERSORT, ESTIMATE, and TIMER in the R package IOBR to evaluate the tumor microenvironment and immune infiltration pattern of each sample. Finally, the single cell sequencing results of immune cells in ccRCC were used to verify the results of immune infiltration analysis, and the performance of the prognostic model was evaluated by calibration curves and c-index. This study revealed that inability of the initial immune response and primary immunodeficiency were significantly enriched in the ICD subgroup with poor prognosis. We found that the ten candidate ICD genes (CALR, ENTPD1, FOXP3, HSP90AA1, IFNB1, IFNG, IL6, LY96, PIK3CA, and TLR4) could affect the prognosis of ccRCC (p < 0.05). The prediction model (PRE) we constructed can not only predict the long-term survival probability but also evaluate the landscape of immune infiltration in ccRCC. Our study demonstrated that low infiltration of dendritic cells in ccRCC implies a poor prognosis, whereas the degree of CTL infiltration is less important. An individualized prediction model was created to predict the 1-, 2-, 3-, and 5-year survival and responsiveness of ccRCC patients to immunotherapy, which may serve as a potent tool for clinicians to make better treatment decisions and thus improve the overall survival (OS) of ccRCC patients in the future.

PMID:36932108 | DOI:10.1038/s41598-023-31493-z

Turk Gogus Kalp Damar Cerrahisi Derg. 2023 Jan 30;31(1):123-127. doi: 10.5606/tgkdc.dergisi.2023.22506. eCollection 2023 Jan.

ABSTRACT

Wiskott-Aldrich syndrome is an uncommon X-linked inherited disorder related to primary immunodeficiency, infections, eczema, and thrombocytopenia. A 21-year-old male patient with this syndrome underwent descending aortic aneurysm repair at the age of 12. The patient had ascending aortic aneurysm with aortic valve regurgitation and surgical aortic root replacement was performed. To the best of our knowledge, this is the first case with Wiskott-Aldrich syndrome operated due to aneurysms development in different segments of the thoracic aorta in both childhood and young adult periods.

PMID:36926165 | PMC:PMC10012987 | DOI:10.5606/tgkdc.dergisi.2023.22506

Exp Clin Transplant. 2023 Feb;21(2):189-193. doi: 10.6002/ect.2022.0348.

ABSTRACT

Omenn syndrome is a rare subtype of severe combined immunodeficiency. Affected patients present recurrent infections, lymphadenopathy, skin eruptions, eosinophilia, hepatosplenomegaly, failure to thrive, and gastrointestinal complications with variable severity. A 3-month-old female infant, born to consanguineous healthy parents, presented with splenomegaly, erythroderma, failure to thrive, and history of recurrent otitis media, hypothyroidism, and Bacille Calmette-Guérin lymphadenitis following Bacille Calmette-Guérin vaccination.The immunologic workup showed lymphopenia; low levels of CD3+ T cells, CD4+ T cells, and CD8+ T cells; normal levels of CD19+ B cells and CD16+/CD56+ natural killer cells; hypogammaglobulinemia; and a high level of serum immunoglobulin E. She was clinically diagnosed with T-B+NK+ severe combined immunodeficiency. Genetic study revealed a missense homozygous alteration (c.617G>A, p.Arg206Gln) in exon 5 of the IL7R gene in the patient, as well as carrier states for the same variant in both parents. The patient received a peripheral blood stem cell transplant from a matched unrelated donor. A reduced intensity conditioning regimen was applied, including fludarabine, melphalan, rabbit antithymocyte globulin, and graft- versus-host disease prophylaxis by cyclosporine and mycophenolate mofetil. She clinically improved, and after engraftment the donor chimerism was 100% at 1 year after transplant. Hematopoietic stem cell transplantis a curative therapeutic option for patients with Omenn syndrome and, when combined with an early diagnosis, can prevent complications and improve patient survival.

PMID:36919728 | DOI:10.6002/ect.2022.0348

Pediatr Pulmonol. 2023 Mar 15. doi: 10.1002/ppul.26374. Online ahead of print.

ABSTRACT

OBJECTIVES: To describe the clinical characteristics and underlying causes of recurrent pneumonia (RP) among hospitalized children, and to identify risk factors associated with adverse outcomes.

METHODS: We reviewed the medical records of hospitalized children diagnosed with RP at the Children’s Hospital of Fudan University from January 2016 to January 2021 and then described clinical characteristics and underlying causes. The associations between factors and adverse outcomes were assessed using logistic regression.

RESULTS: Of 551 children with RP, 483 (87.7%) manifested underlying causes, with recurrent aspiration (127, 23.0%), primary immunodeficiency (91, 16.5%), and congenital heart diseases (63, 11.4%) being the most common. Genetic defects were identified in about a quarter (158, 28.7%) of the patients. Primary immunodeficiency (OR, 7.9; 95% CI, 2.8-22.8), primary ciliary dyskinesia (OR, 12.9; 95% CI, 3.0-54.8), bronchiolitis obliterans (OR, 7.0; 95% CI, 1.7-28.5), and a diagnosis of RP at an age of >3 years (OR, 3.4; 95% CI, 1.3-9.0) were risk factors for severe outcomes. Aspiration (OR, 2.9; 95% CI, 1.3-6.3) and an abnormal family history (OR, 3.3; 95% CI, 1.3-8.2) were risk factors for re-hospitalization.

CONCLUSIONS: The majority (87.7%) of hospitalized children with RP exhibited underlying causes, and genetic defects were common. This article is protected by copyright. All rights reserved.

PMID:36919525 | DOI:10.1002/ppul.26374