Multiple Defects Research Articles

Low-Spin Fe3+ Evoked by Multiple Defects with Optimal Intermediate Adsorption Attaining Unparalleled Performance in Water Oxidation.

Electrocatalytic water splitting is long constrained by the sluggish kinetics of anodic oxygen evolution reaction (OER), and rational spin-state manipulation holds great promise to break through this bottleneck. Low-spin Fe3+ (LS, t2g 5eg 0) species are identified as highly active sites for OER in theory, whereas it is still a formidable challenge to construct experimentally. Herein, a new strategy is demonstrated for the effective construction of LS Fe3+ in NiFe-layered double hydroxide (NiFe-LDH) by introducing multiple defects, which induce coordination unsaturation over Fe sites and thus enlarge their d orbital splitting energy. The as-obtained catalyst exhibits extraordinary OER performance with an ultra-low overpotential of 244 mV at the industrially required current density of 500 mA cm-2, which is 110 mV lower than that of the conventional NiFe-LDH with high-spin Fe3+ (HS, t2g 3eg 2) and superior to most previously reported NiFe-based catalysts. Comprehensive experimental and theoretical studies reveal that LS Fe3+ configuration effectively reduces the adsorption strength of the O* intermediate compared with that of the HS case, thereby altering the rate-determining step from (O* → OOH*) to (OH* → O*) of OER and lowering its reaction energy barrier. This work paves a new avenue for developing efficient spin-dependent electrocatalysts for OER and beyond.

Image reconstruction from compressed measurements for ultrasound NDT

In ultrasound NDT, Delay-and-Sum schemes are commonly used to reconstruct images from the measurement data. For single channel pulse-echo measurements, this is called Synthetic Aperture Focusing Technique (SAFT). In a multi-channel setup, SAFT is extended to the Total Focusing Method (TFM), where the focused image is reconstructed from measurements of all transmit-receive combinations, called Full Matrix Capture (FMC). In previous work, we showed that both SAFT and TFM can be cast as a sparse recovery problem that enables enhancing the Delay-and-Sum scheme to a physically motivated forward model that leads to improved image quality. The reconstruction is performed using l1 minimization. Further, this also allows to perform the reconstruction from compressed/subsampled measurements following compressed sensing theory. This subsampling was achieved by only measuring a subset of the frequency coefficients of the signal. In both the single channel and the multi-channel setup the amount of measurement data is thereby significantly reduced. Additionally, for the TFM, we added a spatial subsampling by only considering a subset of transmit and receive pairs, further reducing the measurement data and at the same time also reducing the measurement time. In our previous work, the frequency and spatial dimensions were considered separately for simplicity, using the same compression strategy for all spatial measurements. In this work we consider joint frequency/spatial compression schemes. We show that a joint multidimensional compression strategy where different Fourier subsets are considered for each channel pair leads to a superior reconstruction performance when the compression rate is fixed. Analysis based on an analytical model for a single defect and a real-world example with multiple defects shows that the approach works in practice.

Diagnosis of Multiple Defects Within Large Hydroelectric Generator Using Stray Flux and Air Gap (Distance and Flux) Measurements

Diagnosis of Multiple Defects Within Large Hydroelectric Generator Using Stray Flux and Air Gap (Distance and Flux) Measurements

Effect of substrate temperature on the performance of Sb2Se3 thin film solar cells fabricated by chemical-molecular beam deposition method

Antimony triselenide (Sb2Se3) stands as a promising candidate for photovoltaic (PV) applications due to its favorable material- and optoelectronic properties. However, the realization of further advancements in device efficiency is hindered by the substantial deficit in open-circuit voltage (VOC) attributed to the presence of multiple defect states and detrimental recombination losses.In this work, solar cells based on Sb2Se3 absorber layers deposited by chemical-molecular beam deposition method at substrate temperatures of 400 °C, 450 °C, and 500 °C. Due to the precise control of the Sb/Se ratio, Sb2Se3 thin films with stoichiometric composition were obtained, which was confirmed by energy-dispersive X-ray spectroscopy. The effect of substrate temperature on the morphology and electrical properties of Sb2Se3 thin-films were characterized by scanning electron microscopy and hot probe method. The PV performance of Mo/Sb2Se3/ZnCdS/CdS/ZnO/ITO/Au devices were investigated by current-voltage characteristics, and external quantum efficiency. The conductivity values tend to increase from 1.2 × 10–6 to 4.6 × 10–4 (Ω cm)-1 as the substrate temperature increased. Whereas, the trap-state density was determined between 7.3 × 1013 – 1.7 × 1014 cm-3 in the absorber layer by the space charge limited current method. Ultimatety, it has been shown that defect densities in Sb2Se3 films can be suppressed to some extent by optimizing the substrate temperature. Best solar cell performance of 5.36%, resulting from VOC of 476 mV, short-circuit current densit of 22.97 mA/cm−2, and fill factor of 49% at the substrate temperature of 450 °C.

Dielectric Barrier Discharge plasma-assisted construction of LDH containing multiple defects for photocatalytic degradation of tetracycline

Dielectric Barrier Discharge plasma-assisted construction of LDH containing multiple defects for photocatalytic degradation of tetracycline

Corrosion mechanisms of plasma sprayed porous coatings of Ni80Cr20 and alloy C-276 investigated by numerical and experimental method

Abstract: In this study, the corrosion performance of Ni80Cr20 and alloy C-276 (UNS N10276) coatings on 7075 aluminum alloy substrates was evaluated using a variety of performance characterization tests. Significant amounts of nickel oxide were found in the corrosion products of the two coatings that were stripped, with molybdenum in the two coatings that were not stripped effectively slowing down the corrosion rate. Both coatings selectively corrode Cr, where it is worth noting that the preferential corrosion of W elements in alloy C-276 has a positive effect on its surface protection. It is not only the amount of molybdenum content, but also the influence of the W element that leads to better corrosion resistance of alloy C-276 coating than Ni80Cr20 alloy coating. The coating spraying process due to process parameters and its own nature, etc. has caused different sizes of pores, while these pores in the corrosion process will have a certain degree of influence on the corrosion process. The size of the pore defects for the coating transverse corrosion effect was more significant, and small pore defects accelerated the corrosion process. The number of pore defects had a more significant effect on the longitudinal corrosion of the coating, and multiple pore defects slowed the corrosion process.

Research on Pavement Defect Detection Algorithm Based on SEM-YOLOv8n

Automated detection and identification of pavement distresses is essential for timely pavement repair. Subtle pavement defects and multiple defects detection is a challenging task under complex background. With the deepening of the deep learning network, some subtle features tend to disappear and are more difficult to detect under the influence of the complex background. To solve the above problems, this paper proposes the SEM-YOLOv8n pavement defect detection algorithm. Firstly, SPD-Conv is used to replace the traditional convolution, which is conducive to retaining more defect detail information in the image and improving the detection ability of subtle defects; then an efficient multi-scale attention mechanism is added to the fusion network, so that the network suppresses the background information and focuses more on the defect information. Finally, MPDIoU is introduced as a loss function, which optimizes the minimum perpendicular distance between the predicted bounding box and the real bounding box and improves the localization ability, thus improving the accuracy of the network. Finally, the effectiveness of the proposed network is verified on the IRRDD dataset, and the results show that the method achieves 91.9% (Precision), 91.3% (Recall), and 71.3% (mAP) for the classification and detection of road multi-scale minor defects, which meets the demand of real-time road defect detection.

Anesthetic Management of a Child with Frontonasal Encephalocele and Hemifacial Microstomia Syndrome for Repair of Encephalocele and Microstomia Correction

AbstractAnesthetic management of a child with hemifacial microstomia and frontonasal encephalocele can be challenging due to factors such as a difficult airway, associated systemic conditions, young age, and prolonged operating time. Hereby, we outline the intraoperative management of a 3-year-old child undergoing repair of multiple defects requiring multidisciplinary involvement of neurosurgery, plastic surgery, and anesthesia team. In our case, a size 0 mask and hyper-angulated D-blade video laryngoscopy were used to prevent sac compression and facilitate intubation. Blood conservation strategies included tranexamic acid, precise fluid management, and maintenance of normothermia. Extubation was carefully planned, considering blood loss and airway edema, and performed when the child was fully awake, ensuring a stable postoperative period and successful recovery. This report emphasizes the importance of meticulous preoperative assessment, readiness for a challenging airway, efficient management of intraoperative blood loss, and the value of teamwork.

Intradural Repair of Temporal Bone Encephalocele and Cerebrospinal Fluid Leak: Results from a Single Institution

Abstract Background Lateral temporal bone encephaloceles incidence is increasing with obesity rates. Middle fossa (MF) craniotomy, transmastoid (TM), or combined MF + TM access can be used for repair. Methods Retrospective review of MF or MF + TM repair with an intradural graft. Sex, age, and body mass index (BMI) were collected. Pre/postoperative audiometric results were included. Postoperative complications were reported. Results A total of 49 patients (50 repairs) were included. In addition, 74% were women (p < 0.05). Ten patients had a history of chronic otitis media and surgery. Average BMI was 35.8, and average age was 59. Furthermore, 54% had multiple skull base defects; 18 (36%) patients had a MF approach. In total, 32 (64%) patients had a MF + TM approach for repair; 13 (40.1%) of these patients had a concurrent tympanoplasty. Hearing improved for 74%. Air conduction pure-tone average improved by an average of 5 dB (p 0.27). No differences in hearing outcomes were observed between the MF and MF + TM groups. Two patients (6%) had hearing decline. Eight complications were reported (1 (2%) skin infection, 4 (8%) recurrent/persistent cerebrospinal fluid [CSF] leaks requiring lumbar drain or shunt, and 3 (6%) episodes of aphasia or mental status change). Age >65 years was not associated with risk of postoperative complication. Conclusion Intradural repair of encephalocele and CSF leak is a safe and effective surgical approach. Intradural reinforcement along the entire MF floor is beneficial for multiple areas of dehiscence and thin dura. Complication rates including recurrent/persistent CSF leak and aphasia related to temporal lobe retraction were similar to previously published reports and not associated with older patient age. Hearing was stable or improved in 94% with no difference noted between MF and MF + TM repair.

Toxicity of nuclear-localized GFP in reporter mice

Various techniques using fluorescent reporter probes have been developed, such as GFP transgenic mouse lines that are used to detect spatial–temporal expression levels of genes. Although GFP expression is largely considered non-toxic, recent reports have indicated that under certain conditions GFP can display cellular toxicity. We hereby report the nuclear toxicity of H2B-GFP using a K14 specific Tet-on reporter mouse system. Using this system, GFP accumulates in the nucleus of all K14 expressing cells, such as the ocular surface epithelia and ocular adnexa. Expression of high levels of nuclear GFP during embryonic stages led to an eye open-at-birth (EOB) phenotype and abnormal ocular adnexa development and during adult and aging stages showed notable toxicity to ocular tissues. Other tissues, such as skin, also presented multiple defects associated with H2B-GFP expression. This toxicity was found to be concentration dependent, with homozygous mice presenting extremely high toxicity, while heterozygous mice presented limited toxicity. Upon induction, the accumulation of H2B-GFP in the nucleus of homozygous mice led to apoptosis within 2 weeks. This study therefore shows that although the use of nuclear GFP reporter mice is a valuable tool, at high levels, nuclear GFP can be toxic, leading to cell death and affecting tissue function.

Morphological characterization of spermatozoa in Apis mellifera and the effect of processing and semen storage

The aim of this study was to establish a standardized approach for evaluating sperm morphology in the honey bee and to investigate the impact of processing techniques and semen storage on the incidence of sperm morphoanomalies. The first experiment was designed to characterize the sperm morphoanomalies in unaltered honey bee semen, examining if they are compatible with sperm motility and viability and determining their occurrence in the ejaculates of mature and healthy honey bee drones. The different forms of sperm morphoanomalies were described in detail. In the morphological analysis of fresh drone ejaculates, 7.77% of spermatozoa showed abnormal morphology on average, with 2.20%, 4.75% and 0.81% of head, tail and multiple defects, respectively. The method also allowed us to determine the status of acrosome integrity. The second experiment was designed to assess the impact of smearing and air-drying on the occurrence of sperm morphoanomalies, showing a significant increase in the incidence of both head and tail sperm defects when comparing to wet samples. In the third and fourth experiments, the effect of semen storage at room temperature and semen cryopreservation, respectively, on the occurrence of sperm morphoanomalies were investigated. The preservation of semen at 22 °C led to a significant increase in spermatozoa with coiled tails after day 1, whereas the remaining anomalies did not exhibit significant variations over time. The freezing-thawing process showed a more pronounced effect on the incidence of morphological defects, with an increase in the percentage of spermatozoa with deformed heads and coiled tails.

Congenital Heart Defects as One of the Causes of Perinatal Mortality

Congenital malformations are one of the most common causes of infant mortality and disability in children, and congenital heart defects (CHD) occupy a leading place in the structure of all developmental anomalies. The article presents data from a retrospective analysis of charts of children who died from complex congenital heart defects and congenital heart defects in combination with multiple developmental defects. An analysis of the pathological examination cards of 102 children from 0 to 2 years old who died in maternity hospitals and children's hospitals in Bishkek was carried out. The selection of autopsy cards of children was carried out on the basis of the Republican Pathological Bureau. As a result of pathological studies, changes in the heart and lungs were revealed. At the maternity hospital stage, out of 102 children with severe congenital heart defects, 70 newborns died, which averaged 68.6%. Among congenital heart defects, heart defects with aortopulmonary shunting with pulmonary hypertension predominated — in 45 children (44%), in particular, ventricular septal defect, atrial septal defect, then ductus-dependent heart defects were diagnosed in 25 children (24.5%), which included Tetralogy of Fallot, transposition of the great vessels. 23.5% of children had multiple congenital malformations: in all cases, congenital heart disease was recorded in combination with several malformations, such as an anomaly of the musculoskeletal system with craniofacial dimorphism, anomalies of the gastrointestinal tract and urinary system, and an anomaly of the lungs. The most common association of congenital heart disease with defects of other organs and systems was observed in cases of ventricular septal defect, atrial septal defect, patent ductus arteriosus.

Surgical Closure of Multiple Muscular Ventricular Septal Defects in Children Using 3D-Printed Models.

Multiple muscular ventricular septal defects (VSDs) are often difficult to visualize and access surgically. The main challenge is identifying all defects intraoperatively, without which residual defects are inevitable. Patient-specific three-dimensional (3D) printed models can help accurately demonstrate intracardiac anatomy. We present our experience using this technology to surgically close multiple muscular VSDs . Data of all patients with multiple VSDs in whom a 3D-printed model was used to aid surgical planning between September 2021 and July 2023 was collected retrospectively. Our approach involved generating a 3D model from a preoperative computerized tomography scan for each patient, which was then used to precisely identify the location of the multiple VSDs and plan surgical intervention. Six patients underwent closure of multiple VSDs using a 3D model. The mean age at surgery was 3.5 years (SD ± 2.8 years). Five (83.3%) patients had previously undergone pulmonary artery banding. The VSDs were approached through the right atrium in three (50%) and the right ventricle in three (50%) patients. Mean cardiopulmonary bypass and myocardial ischemia times were 185.2 min (SD ± 94.8 min) and 147.5 min (SD ± 86 min), respectively. There was no postoperative heart block or a hemodynamically significant residual VSD. All six patients had normal biventricular function at a median follow-up duration of 1.7 months (interquartile range: 1.2-7.4 months). 3D printing to aid closure of multiple VSDs is safe, reliable, and reproducible. We recommend adding 3D printing to surgeons' armamentarium when faced with the challenge of closing multiple muscular VSDs in children.

Performance of glass epoxy composites under combined effect of in‐plane fiber waviness with circular cutout through tensile test, and image processing technique

AbstractPresent study comprehensively explores the phenomenon of in‐plane fiber waviness in glass/epoxy fiber reinforced polymer (GFRP) composites. Utilizing a pioneering technique that employs a semi‐circular bar to induce controlled fiber waviness, coupled with image processing using OpenCV library in Python coding for precise measurement and analysis of in‐plane fiber waviness. This defect is commonly found in components fabricated with fiber‐reinforced composites. During the process of manufacturing fibers may deviate from their intended orientation due to process variables or resin flow dynamics. Understanding in‐plane fiber waviness is crucial due to its impact on mechanical properties of composites. It is essential for optimizing manufacturing processes and ensuring enhanced structural performance in diverse engineering applications through analysis of strength and failure mechanism. A novel study was conducted by introducing a circular cutout within the fiber waviness region to investigate the combined effect of multiple defects. The experimental tensile test reveals that as waviness ratio (WR) increases a significant decrease in its tensile strength and vice versa. The study incorporates scanning electron microscopy (SEM) image analysis to examine composite failure. By advancing the understanding of in‐plane fiber waviness and its implications, this research significantly contributes to ongoing efforts in composite design and optimization.Highlights Adopting a cutting‐edge method to create controlled fiber waviness that makes use of a semi‐circular bar. Image processing with Python code that makes use of the OpenCV package to precisely measure and analyze in‐plane fiber waviness. A new investigation was carried out to examine the combined effect of multiple flaws by creating a circular cutout within the fiber waviness zone.

Research on the fusion imaging method of sign coherence and time reversal for Lamb wave sparse array

Time-reversal imaging struggles to detect plate-like structures due to interference from Lamb wave mode conversion and the processing demands, leading to less effective outcomes. This paper proposes a sign coherence factor and time reversal fusion (SCF-TR) imaging method based on amplitude and phase estimation. This method removes the coherence of array signals during signal reversal and refocusing. It reintroduces the sign coherence component to reduce interference from non-target scattered waves and partially overcome the constraints imposed by the Rayleigh criterion. The method allows imaging at a resolution smaller than the wavelength of Lamb and enhances the quality of the resulting images. In addition, a sparse array design utilizing the White Shark Optimisation Algorithm (WSO) is proposed to streamline the SCF-TR calculation process. This design utilizes sparse full matrix data to improve imaging efficiency. The experimental results show that for single blind hole defects, the SCF-TR method improves the array performance metrics and signal-to-noise ratio by 22.46% and 42.50%, respectively, compared to the TR method. For multiple asymmetric blind hole defects, when the defect size exceeds the resolution threshold, SCF-TR accurately reflects the position and morphology of defects smaller than the wavelength. When the defect size is below the resolution threshold, SCF-TR achieves super-resolution imaging. The sparse array designed using the White Shark Optimization algorithm demonstrates good sidelobe characteristics, effectively reducing sidelobe noise without reducing the array aperture. Moreover, the SCF-TR imaging time is reduced by approximately half while maintaining imaging accuracy.

Optimum feature selection for classification of PD signals produced by multiple insulation defects in electric motors

Partial discharges (PD) are initiated in electrical equipment during various points of the equipment’s lifecycle. The intensity of PD defects rises continuously with time, which can lead to insulation degradation and reduced operational life of the electrical equipment. The optimum feature selection of PD signals captured, from different insulation defects, can enhance the classification accuracy of PD defects and facilitate better visualization of PD parameters for electric motor (EM) insulation monitoring and diagnostics. This paper presents a hybrid approach, based on Maximize Relevancy and Minimize Redundancy (mRMR) and random forest (RF), for the optimum feature selection and classification of PD signals in EMs containing multiple defects. For this purpose, four PD defects are developed in the EMs insulation under laboratory conditions, and 800 PD signals are acquired using a conventional IEC-60,270 experimental platform. The severity of these defects is determined and investigated based on PD characteristic parameters. Several features of both PD sweep signals and conventional PD pulses are extracted. Consequently, the mRMR feature selection technique is implemented to select the significant features of the detected PD signals. To establish the plausibility of this technique, several other feature selection algorithms, including RefliefF, Gini Index (GI), and Information Gain (IG), are introduced for the same datasets. The performance of all these feature selection algorithms is validated using three commonly used classification techniques such as RF, support vector machines (SVM), and k-nearest neighbors (k-NN). In summary, the results show that the combination of mRMR and RF proves to be the most effective feature selection algorithm for the classification of insulation defects in EMs, achieving an accuracy of 99.875%. This accuracy is significantly better than other feature selection and classification techniques and indicates its potential for application to other power system components.

Pioglitazone as a Possible Treatment for Ataxia-Telangiectasia.

Ataxia-telangiectasia (AT) is a rare autosomal recessive disorder characterized by immunodeficiency, progressive cerebellar ataxia, and an increased malignancy risk. Cells derived from individuals with AT show multiple defects, including high oxidant and ionizing radiation sensitivities, poor DNA repair, low iron-sulfur cluster levels, and low reduced glutathione. The clinical course of AT is progressive and unrelenting, with most individuals having a survival time of approximately twenty-five years. Presently, AT has no effective treatments, and most patients receive supportive care only. Recently, pioglitazone, a thiazolidinedione class used to treat type 2 diabetes, has been demonstrated to exert beneficial effects on AT cells and on diabetic individuals with AT. Here, I will discuss the possible molecular mechanisms of pioglitazone's favorable effects on the AT phenotype and why it may have utility in treating some aspects of AT.

Lightweight algorithm based on you only look once version 5 for multiple class defect detection on wind turbine blade surfaces

A lightweight wind turbine blade surface multiple class defect detection algorithm based on You Only Look Once version 5 (YOLOv5) is proposed to address the issues of low accuracy, poor efficiency, and high power consumption associated with manual and traditional automation algorithms used for detecting surface defects on wind turbine blades. Firstly, by replacing the Concentrated-Comprehensive Convolution Block module in YOLOv5 with the GhostBottleneckv2 module, the overall parameter count of the model is significantly reduced. Additionally, advocating the inclusion of the Convolutional Block Attention Module (CBAM) into the YOLOv5 backbone network to address the issue of small targets and significant scale variations in surface defects found on wind turbine blades. The YOLOv5 feature fusion module replaces the Feature Pyramid Network (FPN) structure with the Bidirectional Feature Pyramid Network (BiFPN) structure to enhance the fusion capability of multi-scale weighted features. Finally, the optimized model files underwent structured pruning through the application of pruning strategies, retraining fine-tuning, and knowledge distillation techniques. The experimental results on the self-made dataset of surface defects on wind turbine blades indicate that the optimized model has a parameter count that is only 48.79% of the small version of the YOLOv5 model. However, its mean Average Precision (mAP) and frame rate have increased by 5.05% and 8.1 frames/s, respectively, reaching 94.56% and 43.7 frames/s. The lightweight algorithm proposed in this study meets the accuracy and real-time requirements for surface defect detection on wind turbine blades.

Optical induction of monopoles, knots, and skyrmions in quantum gases

Single topological defects and related structures have been experimentally created inside clouds of Bose-Einstein condensates. However, a practical protocol for creating multiple defects inside a single cloud—a prerequisite for studying defect interactions—has been lacking. Here we propose, and theoretically analyze, a practical protocol for the creation of configurations of topological monopoles, quantum knots, and skyrmions in Bose-Einstein condensates by employing fictitious magnetic fields induced by the interaction of the atomic cloud with coherent light fields. It is observed that a single coherent field is not enough for this purpose, but instead we find incoherent superpositions of several coherent fields that introduce topological point charges. We numerically estimate the experimentally achievable strengths and gradients of the induced fictitious magnetic fields and find them to be adjustable at will to several orders of magnitude greater than those of the physical magnetic fields employed in previous experimental studies. This property together with ultrafast control of the optical fields paves the way for advanced engineering of topological defects in quantum gases. Published by the American Physical Society 2024

Investigating Concomitant RAG-2 and LRBA Mutations in SCID and Autoimmunity.

Inborn errors of immunity (IEI) are a large heterogenous group of diseases characterized by immunodeficiency, immune dysregulation, allergy, auto-inflammation and predisposition for malignancies. Most are inherited in an autosomal recessive trait. We studied a patient with severe combined immunodeficiency (SCID) and immune dysregulation who harbored two distinct bi-allelic IEI-associated genetic mutations. Clinical, immunological and genetic data were collected. Genetic investigation included whole exome sequencing on DNA extracted from skin fibroblasts. Family segregation was performed by Sanger sequencing. Immunological evaluation included absolute and functional evaluation of lymphocytes and chimerism analysis post hematopoietic stem cell transplantation (HSCT). Treg subsets, LRBA and CTLA4 expression levels were measured by flow-cytometric analysis. A nineteen-year-old female patient from a consanguine background underwent unconditioned matched sibling related HSCT during infancy due to clinical presentation of SCID with an Omenn phenotype. At that time her underlying genetic defect was not defined. Years after HSCT, severe auto-immune phenomena were noted, including a systemic lupus erythematosus-like syndrome and ophthalmic manifestations. Genetic evaluation revealed bi-allelic homozygous mutations in RAG-2 (c.685C>T, p.Arg229Trp) and a previously undescribed mutation in LRBA (c.3325G>T, p.Asp1109Tyr). LRBA and CTLA4 expression levels were normal, suggesting that the LRBA variant identified in these kindred is unlikely to be pathogenic. Multiple genetic defects causing complex IEIs may be identified in the same individual in highly consanguineous populations. Functional immunological testing is essential for evaluation of novel genetic variants.