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Front Immunol. 2024 May 22;15:1349919. doi: 10.3389/fimmu.2024.1349919. eCollection 2024.

ABSTRACT

INTRODUCTION: According to the PRISMA criteria, a systematic review has been conducted to investigate the clinical relevance between patients with severe congenital neutropenia (SCN) and cyclic congenital neutropenia (CyN) induced by ELANE mutations.

METHODS: We have searched PubMed, EMBASE, Web of Science, Scopus, Cochrane, CNKI, Wanfang Medicine, and VIP for ELANE mutation related literature published from 1997 to 2022. Using Microsoft Excel collect and organize data, SPSS 25, GraphPad Prism 8.0.1, and Omap analyze and plot statistical. Compare the gender, age, geography, mutation sites, infection characteristics, treatment, and other factors of SCN and CyN patients induced by ELANE mutations, with a focus on exploring the relationship between genotype and clinical characteristics, genotype and prognosis.

RESULTS: This study has included a total of 467 patients with SCN and 90 patients with CyN. The onset age of SCN and CyN are both less than 1 year old, and the onset and diagnosis age of SCN are both younger than CyN. The mutation of ELANE gene is mainly missense mutation, and hot spot mutations include S126L, P139L, G214R, c.597+1G>A. The high-frequency mutations with severe outcomes are A57V, L121H, L121P, c.597+1G>A, c.597+1G>T, S126L, C151Y, C151S, G214R, C223X. Respiratory tract, skin and mucosa are the most common infection sites, Staphylococcus aureus, Pseudomonas aeruginosa and Escherichia coli are the most common.

DISCUSSION: Patients with refractory G-CSF are more likely to develop severe outcomes. The commonly used pre-treatment schemes for transplantation are Bu-Cy-ATG and Flu-Bu-ATG. The prognosis of transplantation is mostly good, but the risk of GVHD is high.

SYSTEMATIC REVIEW REGISTRATION: https://www.crd.york.ac.uk/PROSPERO/. PROSPERO, identifier CRD42023434656.

PMID:38840904 | PMC:PMC11150597 | DOI:10.3389/fimmu.2024.1349919

Clin Immunol. 2024 Jun 3:110269. doi: 10.1016/j.clim.2024.110269. Online ahead of print.

ABSTRACT

Lymphoproliferative disorders (LPD) comprise a heterogeneous group and are originally classified into the “Disease of immune dysregulation” category. Of 96 Taiwanese patients during 2003-2022, 31 (median 66, range 0.03-675 months) developed LPD, mainly including palpable lymphadenopathy (in 10 patients), intestinal lymphadenopathy associated with refractory inflammatory bowel disease (IBD in 8) and hepatosplenomegaly (in 7) during long-term follow-up (median 144, range 3-252 months). They distributed in the categories of antibody deficiency (2 CVID, 2 TTC37, PIK3CD, PIK3R1 and AICDA each), phagocyte (4 CYBB, 1 STAT1 and 1 IFNRG1), immune dysregulation (2 FOXP3, 2 XIAP and 2 HLH), combined immunodeficiencies (2 IL2RG; CD40L, ZAP70 and unknown each), syndromic features (2 STAT3-LOF, 1 WAS and 1 ATM) and three with anti-IFN-γ autoantibodies. An increased senescent (CD8 + CD57+) and CD21-low, disturbed transitional B (CD38 + IgM++), plasmablast B (CD38++IgM-), memory B (CD19 + CD27+) and T_EMRA (CD27-IgD-) components were often observed in cross-sectional immunophenotyping and trended to develop LPD.

PMID:38838929 | DOI:10.1016/j.clim.2024.110269

Insect Sci. 2024 Jun 4. doi: 10.1111/1744-7917.13384. Online ahead of print.

ABSTRACT

A systems biology approach was employed to gain insight into tick biology and interactions between vectors and pathogens. Haemaphysalis longicornis serves as one of the primary vectors of Babesia microti, significantly impacting human and animal health. Obtaining more information about their relationship is crucial for a comprehensive understanding of tick and pathogen biology, pathogen transmission dynamics, and potential control strategies. RNA sequencing of uninfected and B. microti-infected ticks resulted in the identification of 15 056 unigenes. Among these, 1 051 were found to be differentially expressed, with 796 being upregulated and 255 downregulated (P < 0.05). Integrated transcriptomics datasets revealed the pivotal role of immune-related pathways, including the Toll, Janus kinase/signal transducer and activator of transcription (JAK-STAT), immunodeficiency, and RNA interference (RNAi) pathways, in response to infection. Consequently, 3 genes encoding critical transcriptional factor Dorsal, Relish, and STAT were selected for RNAi experiments. The knockdown of Dorsal, Relish, and STAT resulted in a substantial increase in Babesia infection levels compared to the respective controls. These findings significantly advanced our understanding of tick-Babesia molecular interactions and proposed novel tick antigens as potential vaccine targets against tick infestations and pathogen transmission.

PMID:38837613 | DOI:10.1111/1744-7917.13384

Immunol Res. 2024 Jun 4. doi: 10.1007/s12026-024-09494-5. Online ahead of print.

ABSTRACT

Ataxia-telangiectasia (AT) is a rare genetic disorder leading to neurological defects, telangiectasias, and immunodeficiency. We aimed to study the clinical and immunological features of Latin American patients with AT and analyze factors associated with mortality. Referral centers from 9 Latin American countries participated in this retrospective cohort study, and 218 patients were included. Median (IQR) ages at symptom onset and diagnosis were 1.0 (1.0-2.0) and 5.0 (3.0-8.0) years, respectively. Most patients presented recurrent airway infections, which was significantly associated with IgA deficiency. IgA deficiency was observed in 60.8% of patients and IgG deficiency in 28.6%. T- and B-lymphopenias were also present in most cases. Mean survival was 24.2 years, and Kaplan-Meier 20-year-survival rate was 52.6%, with higher mortality associated with female gender and low IgG levels. These findings suggest that immunologic status should be investigated in all patients with AT.

PMID:38834764 | DOI:10.1007/s12026-024-09494-5

J Pediatr Surg. 2024 May 9:S0022-3468(24)00304-X. doi: 10.1016/j.jpedsurg.2024.05.003. Online ahead of print.

NO ABSTRACT

PMID:38834409 | DOI:10.1016/j.jpedsurg.2024.05.003

Cureus. 2024 Apr 30;16(4):e59409. doi: 10.7759/cureus.59409. eCollection 2024 Apr.

ABSTRACT

Varicella infection in immunosuppressed adults can be severe with atypical presentation of skin lesions. Hemorrhagic and ecthymatous varicella is a rare entity and can be misdiagnosed due to its atypical presentation. In its severe form, individuals with underlying cell-mediated immunodeficiency disorders have a high risk of developing multiple organ involvement associated with varicella-zoster virus infection. Here, we report two cases of primary varicella with hemorrhagic and ecthymatous skin lesions in adults receiving systemic immunosuppressive drugs for autoimmune disorders. There are only a few case reports on hemorrhagic and ecthymatous varicella. Hence, this case report highlights the atypical presentation of varicella in immunosuppressed adults, which necessitates an early diagnosis and prompt treatment as a lifesaving step.

PMID:38826608 | PMC:PMC11139544 | DOI:10.7759/cureus.59409

Iran J Allergy Asthma Immunol. 2024 Apr 7;23(2):158-167. doi: 10.18502/ijaai.v23i2.15322.

ABSTRACT

Patients with inborn errors of immunity (IEI) are among the high-risk groups regarding COVID-19. Receiving booster doses (third and fourth) in addition to the standard doses is recommended in these patients. This study investigated the antibody response before and after a booster dose of Sinopharm vaccine in IEI patients. Thirty patients (>12 years) with antibody deficiencies, referred to Imam Khomeini Hospital and Children’s Medical Center in Tehran, were enrolled in this prospective cross-sectional study. All patients were fully vaccinated with the BBIBP-CorV vaccine (2 doses of Sinopharm). Initial measurements of anti-receptor-binding domain (anti-RBD) and anti-nucleocapsid (anti-N) IgG antibody responses were conducted by enzyme-linked immunosorbent assay (ELISA). Subsequently, all patients received a booster dose of the vaccine. Four to six weeks after booster injection, the levels of antibodies were re-evaluated. Twenty patients with common variable immunodeficiency (CVID), 7 cases with agammaglobulinemia and 3 patients with hyper IgM syndrome were studied. Anti-RBD IgG and anti-N IgG antibodies increased in all patients after the booster. Our results indicated the need of receiving booster doses of the COVID-19 vaccine in patients with antibody deficiencies, even for enhancing humoral immune response specially in patients with CVID.

PMID:38822511 | DOI:10.18502/ijaai.v23i2.15322

Cureus. 2024 Apr 30;16(4):e59374. doi: 10.7759/cureus.59374. eCollection 2024 Apr.

ABSTRACT

Primary immunodeficiency (PID) Disorders include a variable group of diseases that are classified according to the functional defects encountered. Chronic granulomatous disease (CGD) is inherited as an X-linked recessive disorder in many cases, and it is the clinical model of disorders of phagocytosis. Skin and solid organs abscesses are the most common presenting symptoms; we will report the case of a four-day-old boy admitted to our hospital for a neck mass with purulent discharges associated with umbilical stump and circumcision site infection; the diagnosis of CGD was later confirmed by the Dihydrorhodamine (DHR) test that turned out to be positive.

PMID:38817488 | PMC:PMC11139010 | DOI:10.7759/cureus.59374

Med Clin North Am. 2024 Jul;108(4):747-755. doi: 10.1016/j.mcna.2023.08.005.

ABSTRACT

Hereditary angioedema is a rare autosomal dominant condition characterized by episodes of swelling of the upper airway, intestines, and skin. The disorder is characterized by deficiency in C1 esterase inhibitor (C1-INH) or a decrease in functional C1-INH. Treatment options include on demand therapy (treatment of acute attacks), long-term prophylaxis, and short-term prophylaxis. Corticosteroids, epinephrine, and antihistamines are not effective for this form of angioedema. The high mortality in patients undiagnosed underscores a need for broader physician awareness to identify these patients and initiate therapy.

PMID:38816115 | DOI:10.1016/j.mcna.2023.08.005

Intern Med. 2024 May 30. doi: 10.2169/internalmedicine.3334-23. Online ahead of print.

ABSTRACT

A 69-year-old man was diagnosed with follicular lymphoma (Grade 3A). Obinutuzumab combined with bendamustine (OB) therapy was initiated as salvage chemotherapy. Nausea, abdominal pain, and hyponatremia appeared after six courses of OB therapy; cytomegalovirus (CMV) enteritis with primary adrenal insufficiency (PAI) was a complication. Ganciclovir and hydrocortisone were administered, and the clinical findings improved. PAI caused by CMV infection has mainly been reported in patients with acquired immunodeficiency syndrome. In the present case, the PAI triggered by CMV infection led to immunodeficiency after chemotherapy.

PMID:38811229 | DOI:10.2169/internalmedicine.3334-23