Saudi Med J
· 2026 May · PMID 42239559
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OBJECTIVES: To analyze and compare temporal trends, demographic characteristics, and stage at diagnosis for thyroid cancer (TC) between Saudi and non-Saudi populations in order to identify potential population-specific e...OBJECTIVES: To analyze and compare temporal trends, demographic characteristics, and stage at diagnosis for thyroid cancer (TC) between Saudi and non-Saudi populations in order to identify potential population-specific etiological drivers. METHODS: We conducted a national retrospective cohort study of TC cases in Saudi Arabia from 2013-2022. To assess population-level trends, we computed age-standardized incidence rates (ASIRs) and multivariable Poisson regression alongside piecewise regression models for comparative analysis. RESULTS: Among 14,159 total cases, TC incidence increased disproportionately in Saudi nationals, rising from 884 to 1,677 (90%), significantly outpacing the 184 to 275 (49%) increase observed in non-Saudis. The incidence rate ratio for Saudis versus non-Saudis was 5.67 (95% CI [5.41, 5.94]). Saudis presented with a significantly younger median age at diagnosis (5-10 years earlier, < 0.001) and demonstrated a steeper annual increase in ASIRs (Interaction = 0.0307, < 0.001). A marked stage migration was concurrently observed among Saudi nationals, with localized diagnoses increasing from 55% to 71%. The recent period of the study (post-pandemic) revealed an acceleration in the Saudi cohort (+316.50 cases annually), a pattern absent in non-Saudis. CONCLUSION: The profound divergence in incidence trends provides compelling evidence consistent with distinct, population-specific etiological drivers. This suggests a need to investigate genetic and environmental factors unique to the Saudi population. However, the heterogeneity of the non-Saudi comparator group necessitates cautious interpretation of the observed incidence rates.
Han Y, Ning W, Lu J
… +3 more, Zhu J, Qin Z, Wang X
Saudi Med J
· 2026 May · PMID 42239558
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OBJECTIVE: To evaluate critically ill patients who had sepsis and how various kidney-related measurements, including eGFR, NGAL, CysC, and the urinary enzyme NAG, predict the onset of sepsis-induced renal damage. METHODS...OBJECTIVE: To evaluate critically ill patients who had sepsis and how various kidney-related measurements, including eGFR, NGAL, CysC, and the urinary enzyme NAG, predict the onset of sepsis-induced renal damage. METHODS: The 135 individuals who were admitted to our sepsis intensive care within 2 years to the end of early 2024 were recruited on a prospective basis and were enrolled based on the predefined criteria. Upon admission, they were dichotomized into 2 groups of participants who developed septic-associated kidney injury (82) and without (53). A comparison of baseline laboratory analyses and blood and urine baseline examinations in the groups was done. Single-variable and multi-variable logistic models were used to determine aspects associated with the development of kidney dysfunction. Receiver-operating characteristic curves were used to determine predictive performance of each biomarker and each combination of biomarkers. RESULTS: The SA-AKI group, as compared to the patients with no renal involvement, had significantly greater values in a number of different clinical indices, such as inflammatory cell count, serum levels of procalcitonin, neutrophils: lymphocyte ratio, platelet counts, serum levels of NGAL, serum levels of CysC, and urinary NAG as well as changed eGFR. In the meantime, their SOFA and APACHE II evaluations were also less inclined (all comparisons were statistically significant). The preliminary regression models implied that there were many variables that were linked to SA-AKI. Nevertheless, it is only 4 measures of NGAL in blood, CysC in serum, NAG in urine and eGFR that were not confounded and correlated with the condition. Their values of AUROC were 0.875, 0.889, 0.797 and 0.864 respectively; the combined model of these indicators yielded a higher value of 0.946. CONCLUSION: The early signs of inevitability of sepsis-associated kidney injury are abnormal eGFR, NAG, CysC, and NGAL among septic ICU patients, and the combination of all these 4 markers offers the most potent predictive power.
Alharbi RR, Alnajar OF, Almahdi RE
… +6 more, Alrougi SA, Alshehri RA, Alotaibi RA, Alharbi SS, Eltahir MA, Fageeh YA
Saudi Med J
· 2026 May · PMID 42239557
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OBJECTIVE: To assess the available data regarding medicinal, surgical, and combination therapy approaches for odontogenic sinusitis linked to OAC and OAF. Oroantral communication (OAC), an atypical connection between the...OBJECTIVE: To assess the available data regarding medicinal, surgical, and combination therapy approaches for odontogenic sinusitis linked to OAC and OAF. Oroantral communication (OAC), an atypical connection between the oral cavity and maxillary sinus, commonly arises following upper jaw procedures, trauma, or infection. Chronic odontogenic maxillary sinusitis may result from OAC developing into an oroantral fistula (OAF) if treatment is not received. Recurrent infections and functional difficulties can be avoided by managing these illnesses effectively. METHODS: A systematic search was conducted in National Library of Medicine's (PubMed [MEDLINE]) and Google Scholar for studies published between 2000 and 2024. A total of 174 articles were initially identified. After applying inclusion and exclusion criteria and performing full-text screening, 5 observational studies were included. Data extraction followed a standardized template, meta-analysis was conducted to compare success, failure, and adverse event rates across treatment modalities. RESULTS: Five observational studies, including 459 patients were analyzed. The surgical and medical groups' treatment outcomes did not differ statistically significantly (OR = 3.24; 95% CI: 0.23, 46.18), with initial heterogeneity resolved through sensitivity analysis (I reduced from 82% to 1%). Similarly, failure rates did not differ significantly between groups (OR = 0.60; 95% CI: 0.01, 486.7), though high heterogeneity remained (I = 92%). Adverse events were minimal and comparable across groups (Risk Difference = 0; 95% CI: -0.08, 0.08), with no observed heterogeneity (I = 0%). Overall, both treatment approaches demonstrated similar efficacy and safety profiles. CONCLUSION: Both medical and surgical interventions appear effective in managing odontogenic sinusitis related to OAC and OAF. To create standardized treatment regimens and evaluate long-term results, more controlled research is required.
Güner G, Tercan C, Dağdeviren E
… +13 more, Yeniocak AS, Elbistanli C, Erdoğmuş SN, Hazirbulan A, Bayrak YM, Çaltek NÇ, Şahin G, Tercan E, Çamili FE, Vural NA, Karatay H, Kara SMG, Yüksel İT
Saudi Med J
· 2026 May · PMID 42239556
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OBJECTIVES: To evaluate appendectomy specimen findings and their association with tumor type and stage. Concurrent appendectomy is frequently performed during gynecologic oncology surgery to prevent postoperative appendi...OBJECTIVES: To evaluate appendectomy specimen findings and their association with tumor type and stage. Concurrent appendectomy is frequently performed during gynecologic oncology surgery to prevent postoperative appendicitis and detect occult pathology, yet its value remains debated. METHODS: In this study, we reviewed the medical records of 300 women who underwent gynecologic oncologic surgery accompanied by appendectomy at Başakşehir Çam and Sakura City Hospital (Istanbul, Türkiye) over the period from July 2020 to April 2025. Clinical, surgical, andhistopathologic data were collected. Appendiceal pathologies were categorized as reactive hyperplasia, chronic inflammation, benign neoplasms, metastatic tumors, or primary. Statistical analyses included chi-square, t-test, and ANOVA. RESULTS: Participants had an average age of 55.6 ± 13.4 years, and 61.7% of them were postmenopausal. Among ovarian tumors, malignant epithelial lesions represented 54.7% of cases, while borderline tumors accounted for 17.7% and benign tumors for 17%. Histopathology revealed chronic inflammation in 40.7%, reactive changes in 34.3%, metastatic disease in 23.3%, benign neoplasms in 1.3%, and primary malignancy in 0.3%. Metastases occurred only in malignant ovarian tumors (35.7%), predominantly high-grade serous carcinomas < 0.001). Borderline and benign tumors were mainly associated with reactive findings, and no metastatic involvement was detected. CONCLUSION: Concurrent appendectomy during gynecologic oncology surgery is safe and frequently reveals clinically relevant pathology. Appendectomy should be encouraged during cytoreduction, while its role in benign and early-stage cases warrants further investigation.
Saudi Med J
· 2026 May · PMID 42239553
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The human gut contains bacteria, viruses, and archaea that influence health depending on age, diet, and location. An individual harbours about 150 bacterial species. An imbalance of these microorganisms, known as dysbios...The human gut contains bacteria, viruses, and archaea that influence health depending on age, diet, and location. An individual harbours about 150 bacterial species. An imbalance of these microorganisms, known as dysbiosis, can negatively impact health. Commensal bacteria maintain microbial homeostasis by building short chain fatty acids. The 2-way communication channel that connects the gut and the brain is referred to as the gut-brain axis. Dysbiosis of the gut leads to some autoimmune diseases. A decline of beneficial bacteria causes the progression of rheumatoid arthritis. Gut dysbiosis increases intestinal permeability, allowing toxins and cytokines to enter the bloodstream and damage neurons. Through interactions with the immune system, the gut microbiota plays a complex role in both health and disease, including contributing to the development of type 1 diabetes. This review stresses the need to integrate measures to identify microbial biomarkers and also metabolic and genetic interplay between the microbiome and health.
Saudi Med J
· 2026 May · PMID 42239552
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OBJECTIVES: To determine regional radiation dose in adults head computed tomography (CT) examinations in Jeddah by assessing the volume computed tomography dose index (CTDI) and dose length product (DLP) values. METHODS:...OBJECTIVES: To determine regional radiation dose in adults head computed tomography (CT) examinations in Jeddah by assessing the volume computed tomography dose index (CTDI) and dose length product (DLP) values. METHODS: A retrospective study was conducted from February to April 2025 across 10 CT scanners from 5 governmental hospitals in Jeddah. Data for 20 head CT examinations per scanner were collected. Dose metrics including CTDI and DLP (mGy·cm), were extracted from digital imaging and communications in medicine (DICOM) images. Mean values per scanner and the 75 percentile were calculated across centres to identify the regional DRL. The values were compared with the national diagnostic reference levels (NDRLs) using a bootstrapping method. Data analysis was performed using IBM SPSS Statistics (v26). RESULTS: A total of 200 patients derived from the study showed a significant difference in radiation doses across hospitals ( = 0.001). The 75 percentile of the mean CTDI and DLP values were 52.69 mGy and 979.19 mGy·cm, respectively, slightly lower than the national average (55 mGy and 1026 mGy·cm). Median CTDI and the DLP values ranged from 27.38-60.48 mGy, 485.50-1191.16 mGy·cm, with the highest differences reaching 120% and 145% for CTDI and DLP median values. CONCLUSION: Substantial variation in radiation doses across hospitals were observed, highlighting inconsistencies in scanning protocols. Enhancing technologists' training and regular dose audits are required to comply with the standards of Saudi Food and Drug Authority guidelines as a practice in every hospital in the Kingdom of Saudi Arabia.
Aksoy NT, Güven BB, Soyalan SM
… +3 more, Yamaç DM, Ertürk T, Abitağaoğlu S
Saudi Med J
· 2026 May · PMID 42239551
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OBJECTIVES: To evaluate the relationship between C-reactive protein (CRP)/prealbumin and CRP/albumin ratios, Clinical Frailty Scale (CFS) scores, and short-term (first 3 days) and long-term (28 days) mortality in geriatr...OBJECTIVES: To evaluate the relationship between C-reactive protein (CRP)/prealbumin and CRP/albumin ratios, Clinical Frailty Scale (CFS) scores, and short-term (first 3 days) and long-term (28 days) mortality in geriatric patients hospitalized in the intensive care unit. METHODS: After obtaining ethical approval and informed consent, 213 patients aged 65 years and older were included. Patients discharged within 24 hours, those discharged and readmitted during the study period, those receiving routine albumin replacement, and patients with cirrhosis or undergoing chronic dialysis were excluded. Demographic characteristics, admission diagnoses, chronic comorbidities, frailty scores at admission, and laboratory values, including albumin, prealbumin, and CRP levels measured within the first 24 hours were recorded. RESULTS: The study population comprised 97 (45.5%) female and 116 (54.5%) male patients, with a mean age of 78.8 years. The most common diagnosis was septicemia (56.33%), and the most prevalent comorbidities were hypertension (65.25%), malignancy (35.6%) and diabetes (34.7%). Both CRP/prealbumin and CRP/albumin ratios were higher in patients who experienced early and late mortality. Frailty scores did not differ in cases of early mortality; however, patients with higher frailty scores were more likely to experience long-term mortality. Additionally, the length of intensive care unit stay was longer in patients with a frailty score ≥7 compared to those with a score ≤6. CONCLUSION: The CFS, CRP/prealbumin, and CRP/albumin ratios are valuable predictors of long-term mortality in older patients receiving intensive care.
Saudi Med J
· 2026 May · PMID 42239550
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OBJECTIVES: To evaluate the diagnostic value of hematological and biochemical inflammatory markers in distinguishing missed abortions from healthy pregnancies during the first trimester. METHODS: This retrospective case-...OBJECTIVES: To evaluate the diagnostic value of hematological and biochemical inflammatory markers in distinguishing missed abortions from healthy pregnancies during the first trimester. METHODS: This retrospective case-control study was conducted between May 2022 and May 2024, included 61 women diagnosed with missed abortion by ultrasound and 100 healthy pregnant women who acted as controls. The following inflammatory markers were calculated from routine blood and biochemistry results: neutrophil-lymphocyte ratio (NLR), platelet-lymphocyte ratio (PLR), monocyte-lymphocyte ratio (MLR), lymphocyte-monocyte ratio (LMR), systemic immune-inflammation index (SII) and C-reactive protein-albumin ratio (CAR). Intergroup comparisons and receiver operating characteristic (ROC) curve analyses were performed. RESULTS: The platelet count was significantly lower in the missed abortion group than in the control group ( = 0.049). No significant differences were found in NLR, PLR, LMR, SII and CAR levels. Only the MLR value was close to the threshold of statistical significance ( = 0.054). CONCLUSION: In our study, most systemic inflammation markers showed limited diagnostic utility for diagnosing missed abortions. These findings suggest that inflammation in the pathophysiology of missed abortion may be localised or time-dependent rather than systemic. Further prospective studies with larger cohorts are required to confirm these findings.
Al-Shaibi K, Alasnag M, Amin H
… +7 more, Calik AN, AlMasood A, Alenezi A, Alanazi N, AlMoghairi A, Abu-Hantash H, AlMerri K
Saudi Med J
· 2026 May · PMID 42239549
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Bifurcation lesions are among the most challenging in percutaneous coronary intervention (PCI), with outcomes affected by anatomy, side-branch disease, and procedural variability. Existing European definitions and strate...Bifurcation lesions are among the most challenging in percutaneous coronary intervention (PCI), with outcomes affected by anatomy, side-branch disease, and procedural variability. Existing European definitions and strategies require adaptation for Middle Eastern populations, where diabetes, obesity, and hypertension are highly prevalent and present earlier. The Middle East Bifurcation Club (MEBC), with the National Heart Center, used the Nominal Group Technique to standardize bifurcation PCI terminology, techniques, and treatment pathways tailored to regional demographics. The consensus provides evidence-based recommendations on imaging, provisional and 2-stent strategies, POT, and left main versus non-left main bifurcations, alongside practical algorithms and heart team guidance, highlighting the need for regional outcome data to optimize care.
Atalay S, Çaltekin M, Çallıoğlu N
… +4 more, Ersan F, Alpay V, Anasız Y, Geyikoğlu I
Saudi Med J
· 2026 May · PMID 42239548
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OBJECTIVE: This study aimed to investigate the clinical utility of the delta neutrophil index (DNI) in distinguishing patients with intrahepatic cholestasis of pregnancy (ICP) from healthy pregnant women, and to assess i...OBJECTIVE: This study aimed to investigate the clinical utility of the delta neutrophil index (DNI) in distinguishing patients with intrahepatic cholestasis of pregnancy (ICP) from healthy pregnant women, and to assess its potential role in evaluating disease severity. METHODS: This retrospective analysis included data from 249 pregnant women. Among them, 131 were identified with ICP, based on clinical symptoms and total bile acid levels ≥10 μmol/L. The remaining 118 participants served as healthy controls. The ICP cases were categorized into mild (TBA 10-39 μmol/L; n = 90) and severe (TBA ≥ 40 μmol/L; n = 41) subgroups. Demographic data, routine blood parameters, and DNI values were evaluated across the groups. RESULTS: The ICP group demonstrated significantly elevated white blood cell (WBC) counts, neutrophil counts, immature granulocyte (IG) levels, DNI values, and neutrophil-to-lymphocyte ratio (NLR) compared to controls ( < 0.05 for all). Both mild and severe ICP subgroups exhibited higher IG, DNI, and NLR than controls. Furthermore, DNI and IG values significantly differed between mild and severe ICP cases. Receiver operating characteristic (ROC) analysis revealed high diagnostic performance for both DNI (cut-off: 0.65; sensitivity: 82.4%; specificity: 78%) and IG (cut-off: 0.06; sensitivity: 77.1%; specificity: 82.2%). CONCLUSION: The DNI levels were markedly elevated in ICP and varied with disease severity, suggesting its potential as a noninvasive marker for both diagnosis and risk stratification.
Hong W, Xiong X, Fang C
… +10 more, Luo C, Qian X, Yao X, Ye X, Yu B, Zhou B, Chen D, Shu C, Wang Y, Li Y
Saudi Med J
· 2026 May · PMID 42239546
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OBJECTIVES: The process of analyzing tumor-associated neutrophils (TANs) types is complex. This study explored the relationships among clinicopathological characteristics, peripheral blood markers, and TANs. METHODS: Cli...OBJECTIVES: The process of analyzing tumor-associated neutrophils (TANs) types is complex. This study explored the relationships among clinicopathological characteristics, peripheral blood markers, and TANs. METHODS: Clinical information was retrospective gathered for 115 patients in our hospital from May 2019 to May 2021, and multiplex immunofluorescence staining was utilized to access the expression of TANs and analyze the potential relationship between TANs and clinicopathological features or peripheral blood markers. RESULTS: Among the 115 patients, the proportion of female patients within the neutrophils (N1)-low group was notably greater compared to the N1-high group (87.5% vs. 12.5%, = 0.022). In nonsmoking patients, the proportions in the N1-low and the N2-high groups were 73.9% and 60.9%, respectively, which were greater than those in the N1-high and the N2-low groups ( = 0.028, = 0.048). Platelets (PLTs) were negatively correlated with N2 neutrophils ( = 0.027). The CRP levels in the N1-low group and N1-high group were 26.2 and 53.6, respectively ( = 0.040). The N1-high group had higher PLT and AISI compared to the N1-low group (241.4 vs. 286.7, = 0.014; 525.6 vs. 1230.5, = 0.040). N1 neutrophils were positively correlated with LDL ( = 0.048). The count of N2 neutrophils and the N/N ratio exhibited a negative correlated with ApoA1 ( = 0.049, = 0.035). The N/N-high group had higher CYFRA21-1 values ( = 0.021). CONCLUSION: Our findings indicate that we can utilize simple and readily available clinical information to forecast the expression of TANs within the tumor immune microenvironment.
Saudi Med J
· 2026 Mar · PMID 42238293
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OBJECTIVES: Post-thyroidectomy hypocalcemia is the leading cause of post-thyroidectomy hospitalization, adversely affecting patient quality of life. The current study sought to determine the incidence of post-thyroidecto...OBJECTIVES: Post-thyroidectomy hypocalcemia is the leading cause of post-thyroidectomy hospitalization, adversely affecting patient quality of life. The current study sought to determine the incidence of post-thyroidectomy hypocalcemia, identify risk factors and their clinical significance, and provide an overview of the incidence in different Saudi Arabian cities. METHODS: This retrospective analysis included all patients who underwent thyroidectomies at King Salman Armed Forces Hospital Northwestern Region, Tabuk, Saudi Arabia between 2015 and 2021 and had available pre- and post-operative calcium levels and clinical, surgical, and pathological data. Various risk factors were evaluated using binary logistic regression to determine their impact on the development of post-thyroidectomy hypocalcemia. RESULTS: A total of 153 patients were enrolled, and most (n = 128, 83.7%) were women; 88 patients (57.5%) received a malignant diagnosis. The overall incidence of post-thyroidectomy hypocalcemia was 70.6%. In the multivariate logistic regression analysis, female gender (adjusted odds ratio [OR] = 2.9; 95% confidence interval [CI], 1.0-7.6), the presence of diabetes mellitus (OR = 4.9; 95% CI, 1.2-20.5), and the failure to identify the parathyroid glands in the operative report (OR = 2.9; 95% CI, 1.2-6.7) significantly correlated with a higher risk of post-thyroidectomy hypocalcemia. Redo surgery was the sole factor significantly correlated with permanent hypocalcemia ( = 0.048). CONCLUSION: Post-thyroidectomy hypocalcemia is a serious condition that should be evaluated at each center to provide patients with accurate risk assessments prior to surgery. Further studies are required to overcome this surgically challenging condition.
Saudi Med J
· 2026 Mar · PMID 42238292
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OBJECTIVES: To assesses the challenges of implementing electronic medical records (EMR) from the leaders' perspective in public hospitals in Riyadh, Kingdom of Saudi Arabia (KSA), and explores their suggestions for impro...OBJECTIVES: To assesses the challenges of implementing electronic medical records (EMR) from the leaders' perspective in public hospitals in Riyadh, Kingdom of Saudi Arabia (KSA), and explores their suggestions for improvement. METHODS: A concurrent mixed research approach using a purposive sample of all hospital leaders (61) involved in EMR in 5 randomly selected public hospitals utilizing EMR in Riyadh. The researchers deployed a semi-structured interview schedule to collect the data. They used descriptive statistics and ordinal regression analysis for quantitative data, and thematic analysis for qualitative data. RESULTS: Indicate that 80.3% of the hospital leaders had a good perception of EMR implementation. They also reported a high level of staff perception (88.5%). The ordinal regression analysis shows that sufficient infrastructure ( = 0.003) and the total staff perception score ( = 0.002) are significant predictors of higher perceptions of EMR implementation. Thematic analysis identified several implementation challenges: training and adoption (29.5%), system issues (23%), time (21.3%), change management (16.4%), and infrastructure/data management (4.9%). Suggested improvements emphasized user training and education (34.4%), system enhancements (24.6%), user involvement and feedback (18%), infrastructure and resources (13%), project management (6.6%), and implementation strategy (3.3%). CONCLUSION: Hospital leaders play a critical role in EMR implementation and adoption, a topic underrepresented in the existing literature. It highlights the need for collaboration among IT professionals, healthcare staff, and policymakers to address ongoing challenges.
Saudi Med J
· 2026 Mar · PMID 42238291
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Cardiac rehabilitation (CR) is a corner stone intervention in secondary prevention of cardiovascular disease where a multidisciplinary team provides tailored management of lifestyle interventions, exercise and behavioura...Cardiac rehabilitation (CR) is a corner stone intervention in secondary prevention of cardiovascular disease where a multidisciplinary team provides tailored management of lifestyle interventions, exercise and behavioural counselling. Participating in CR resulted in better rates of tobacco cessation, blood pressure and cholesterol lowering and better glycaemic control [1]. CR participation results in significant lower mortality and hospitalizationand improved quality of life. Despite the body of evidence and the robust recommendation by international guidelines it remains underutilized especially by women.
Alasnag M, Asiri A, Alrahbi H
… +13 more, Aloui N, Anwar AM, Alhassani S, AlQaseer MM, Raslan IR, AlBakri I, Almustafa A, Attar R, Katbi F, Khaleil F, Elhazmi A, Tash A, Alburaiki J
Saudi Med J
· 2026 Mar · PMID 42238290
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OBJECTIVE: Cardiogenic shock (CS) remains a serious complication of acute myocardial infarction (AMI) with persistently high mortality and significant variability in management across centers. METHODS: A multidisciplinar...OBJECTIVE: Cardiogenic shock (CS) remains a serious complication of acute myocardial infarction (AMI) with persistently high mortality and significant variability in management across centers. METHODS: A multidisciplinary panel convened by the National Heart Center used the GRADE framework to review evidence and develop consensus recommendations tailored to AMI-related CS. RESULTS: The document emphasizes standardized CS definition and staging, prioritizing the SCAI classification. Key components include early recognition, haemodynamic assessment, lactate monitoring, and the central role of echocardiography. Recommendations support rapid culprit-vessel revascularization, early consideration of mechanical circulatory support, and structured Heart Team activation. The document also highlights the need for protocolized care pathways and CS registries. CONCLUSION: These consensus recommendations provide a unified approach to AMI-related CS aimed at reducing practice variation and improving clinical outcomes.
Saudi Med J
· 2026 Mar · PMID 42238289
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Inhibitory kappa B kinase beta (IKBKB, IKK2, or IKKβ) acts as an activator of the nuclear factor (NF)-κB signaling cascade that is involved in regulating normal physiological processes and is dysregulated in several path...Inhibitory kappa B kinase beta (IKBKB, IKK2, or IKKβ) acts as an activator of the nuclear factor (NF)-κB signaling cascade that is involved in regulating normal physiological processes and is dysregulated in several pathological processes including immunological disorders. Mutations in have been found to cause immune deficiency syndromes. Inherited loss-of-function mutations in lead to severe or lethal immune deficiency. In this review, the clinical significance of mutations will be reviewed in the context of immune deficiency syndromes. All published clinical cases of mutations relevant to immune deficiency, either caused by loss- or gain-of-function mutations will be presented to provide a comprehensive overview of the genetic, clinical, and immunological patterns of these mutations. Finally, the challenges and future perspectives in the diagnosis and management of affected patients with this rare condition will be discussed.