Dominant negative OTULIN-related autoinflammatory syndrome.

OTU deubiquitinase with linear linkage specificity (OTULIN) regulates inflammation and cell death by deubiquitinating linear ubiquitin chains generated by the linear ubiquitin chain assembly complex (LUBAC). Biallelic loss-of-function mutations causes OTULIN-related autoinflammatory syndrome (ORAS), while OTULIN haploinsuffiency has not been associated with spontaneous inflammation. However, herein, we identify two patients with the heterozygous mutation p.Cys129Ser in OTULIN. Consistent with ORAS, we observed accumulation of linear ubiquitin chains, increased sensitivity to TNF-induced death, and dysregulation of inflammatory signaling in patient cells. While the C129S mutation did not affect OTULIN protein stability or binding capacity to LUBAC and linear ubiquitin chains, it did ablate OTULIN deubiquitinase activity. Loss of activity facilitated the accumulation of autoubiquitin chains on LUBAC. Altered ubiquitination of LUBAC inhibits its recruitment to the TNF receptor signaling complex, promoting TNF-induced cell death and disease pathology. By reporting the first dominant negative mutation driving ORAS, this study expands our clinical understanding of OTULIN-associated pathology.

COVID-19 and Pediatric Rheumatology: A Comprehensive Study from a Leading Tertiary Center in Saudi Arabia.

The Coronavirus disease 2019 (COVID-19) pandemic has emerged as a significant global health concern, impacting millions of individuals worldwide. However, there remains a notable gap in the literature regarding pediatric studies, specifically focusing on children with rheumatic diseases and the potential risk factors associated with COVID-19 contraction in this specific patient population. Patients with rheumatic diseases are often undergoing immunemodulator/immunosuppressant therapies, which can further complicate their immune system response to infections. This is a retrospective cohort study conducted at King Abdullah Specialized Children's Hospital (KASCH), the largest tertiary care children's hospital in Saudi Arabia. The aim was to investigate the rate, clinical manifestations, risk factors, and outcomes of COVID-19 infection in pediatric patients with rheumatic diseases. All rheumatology patients (< 19 years) who presented to the hospital as outpatients, inpatients, and/or ER visits during the period of March 2020 to March 2022 were reviewed for confirmed diagnosis of COVID-19. Among 482 patients included in this study, 126 (26.1%, 95% CI 21.8-31.1) had COVID-19 infection, and no factors were identified to increase the risk of contracting the virus. Fever (55.6%, n = 70) followed by respiratory symptoms (55.6%, n = 70) were the most common clinical manifestations, and around 30% of the patients were asymptomatic. Though most of the patients recovered without complications (97.6%, n = 123), mortality was reported in 3 patients (2.38%). The risk of hospitalization was almost 6 times higher in males (OR = 5.97), and higher in patients receiving t-DMARDs (OR = 17.53) or glucocorticoids (OR = 6.69). The study also revealed that vaccinated children were at lower risk of hospitalization due to COVID-19 than non-vaccinated children. The findings of this study help to identify the risk factors for COVID-19 among children with rheumatic diseases and provide insight into the impact of the pandemic on this group. Overall, while most cases were mild and resolved on their own, unvaccinated patients and those receiving t-DMARDs or glucocorticoids needs vigilant monitoring during the COVID-19 infection. Furthermore, we strongly advocate for the widespread promotion of COVID-19 vaccination among pediatric rheumatology patients as it significantly reduces their risk of COVID-19-related hospitalization.

Complete Remission in a Child With Multisystem Inflammatory Syndrome and Stevens-Johnson Syndrome Treated With Infliximab.

COVID-19, caused by SARS-CoV-2, can present with various dermatological manifestations, including (albeit rarely) severe mucocutaneous manifestations such as Stevens-Johnson syndrome (SJS) and toxic epidermal necrosis. In contrast, multisystem inflammatory syndrome in children (MIS-C) commonly presents with mucocutaneous manifestations. The presentation of SJS in a child with MIS-C deserves increased attention from clinicians because of its potential fatality. Here we describe a 10-year-old boy with a history of exposure to confirmed COVID-19 who presented with fever, bilateral subconjunctival hemorrhage, cracked and red lips, oral ulcers, and generalized hemorrhagic skin lesions with targetoid lesions. Laboratory tests revealed leukocytosis, neutrophilia, lymphopenia, elevated C-reactive protein, sedimentation rate, ferritin, and B-type natriuretic peptide. A skin biopsy revealed patchy vacuolar interface dermatitis with subepidermal edema and superficial and deep perivascular predominantly histiocytic infiltrates with scattered eosinophils, lymphocytes, and neutrophils suggestive of SJS. In addition to supportive treatment, he was treated with IV methylprednisolone, immunoglobulins, and infliximab, after which his symptoms improved and gradually resolved.

Diagnosis and Treatment of Chronic Non-bacterial Osteomyelitis: A Survey on Current Practices Adopted by Pediatric Rheumatologists in Saudi Arabia.

INTRODUCTION: Chronic nonbacterial osteomyelitis (CNO) is an autoinflammatory bone disease usually managed by pediatric rheumatologists (PRs). There is a need for a consensus treatment plan to minimize the diversity in clinical practice in the diagnosis and management of CNO. In this study, we explored the practice of PRs in Saudi Arabia on the diagnosis and treatment of patients with CNO. METHODS: This is a cross-sectional study that was conducted among PRs in Saudi Arabia (May to September 2020). A survey was performed among PRs registered in the Saudi Commission for Health Specialties using an electronic-based questionnaire. The survey consisted of 35 closed-ended questions about the diagnosis and management of CNO patients. We explored the approaches adopted by PRs in diagnosing and monitoring the disease activity, their awareness of clinical possibilities that necessitate ordering bone biopsy, and the treatment choices they considered for CNO patients. RESULTS: We scrutinized data from a total of 77% (n=41/53) PRs who responded to our survey. Magnetic resonance imaging (MRI) was reported as the most frequently used modality in suspected CNO (82%, n=27/33), followed by plain X-ray (61%) and bone scintigraphy (58%). Magnetic resonance imaging of a symptomatic site is the imaging modality of choice for the diagnosis of CNO (82%), Followed by X-ray (61%) and bone scintigraphy (58%). The reasons for performing bone biopsy were unifocal lesions (82%), unusual sites of presentation (79%), and multifocal lesions (30%). The preferred treatment regimens were bisphosphonates (53%), non-steroidal anti-inflammatory drugs alone (43%), or biologics with bisphosphonates (28%). The reasons to upgrade the treatment in CNO included the development of vertebral lesions (91%), the development of new lesions in MRI (73%), and the elevation of inflammatory markers (55%). The disease activity was assessed by history and physical examination (91%), inflammatory markers (84%), MRI of targeted symptomatic site (66%), and a whole-body MRI (41%). CONCLUSIONS: The approach to diagnosis and treatment of CNO varies among PRs in Saudi Arabia. Our findings provide a background for the development of a consensus treatment plan for challenging CNO patients.

Child health advocacy in Saudi Arabia: Traditional medicine as a model.

Objective: The purpose of this work is to describe the opportunities and challenges faced by health advocates in Kingdon of Saudi Arabia (KSA) regarding traditional medicine practices, which commonly result in health issues affecting children in the community. Method: A literature review was conducted of all articles identified in PubMed with the following keywords: alternative medicine, traditional medicine, KSA, and advocacy. No articles from other countries with similar cultural backgrounds were excluded, and recommendation from authors were listed at the end of the article. Results: Traditional medicine, traditional herbal medications, and spiritual treatments, which are common practices in the community, present major opportunities for advocacy in KSA. Because these practices are conducted without appropriate supervision, many adverse events result, thus affecting children and families. Many challenges are described herein, such as use of these practices in treating benign self-limited conditions; the surrounding culture and beliefs; and the dilemma of achieving child protection. At the system level, national policies and legislation, as well as research, are lacking. Moreover, health care facilities have longer waiting lists than traditional medicine facilities. Conclusion: Recommendations include improving knowledge, facilitating behavioral changes, data collection, bylaw enactment, and providing better access to health care facilities, all of which are supported by Saudi Vision 2030.

Paediatric career decision: a literature review of motivational factors.

Unless decision-makers for the future paediatric workforce are aware of different factors that influence the career choices of candidates, they may not be able to meet the needs of this major specialty. Paediatricians should be perceptive, effective communicators and endlessly patient with children. In this article, we conducted a thorough literature search to explore factors affecting career choices among undergraduate and postgraduate students who choose paediatrics or paediatric subspecialties. We assessed the similarities and differences in decision-making in paediatric, medicine, surgery and orthopaedic career contexts to help the candidates in ranking their career options. The authors found that both intrinsic and extrinsic factors shape the career choices of those seeking to work in paediatrics or paediatric subspecialties. A well-structured career development curriculum and clinical experience are considered the most important extrinsic factors, whereas personal characteristics of the candidate and career needs are considered the most important intrinsic factors. These factors may vary across specialties, and even between different subspecialties within the same major specialty. Some factors are considered very important, while others are deemed less so in comparison. The role of mentoring in career selection is crucial. It has been documented in a sizable body of literature that residents are inspired to pursue the careers of their mentors. Paediatrics is no exception. The decision to pursue a subspecialty training is complex and is affected by multiple factors. Those engaged in managing the workforce of the future in the field of paediatrics must familiarise themselves with the intrinsic and extrinsic factors that affect the candidates' career choices.

Identifying the Prevalence and Causes of 30-Day Hospital Readmission in Children: A Case Study from a Tertiary Pediatric Hospital.

Introduction: The objectives of this study were to determine the prevalence of unplanned readmissions in the pediatric population within 30 days of discharge, identify the possible reasons behind them, and develop a predictive model for unplanned admissions. Methods: A retrospective chart review study of 25,211 patients was conducted to identify the prevalence of readmissions occurring within 30 days of discharge from the King Abdullah Specialized Children's Hospital (KASCH) in Riyadh, Saudi Arabia, between Jan 1, 2019, and Dec 31, 2021. The data were collected using the BestCare electronic health records system and analyzed using Jamovi statistical software version 1.6. Results: Among the 25,211 patients admitted to the hospital during the study period, the prevalence of unplanned readmission within 30 days was 1291 (5.12%). Of the 1291 patients, 1.91% had subsequent unplanned readmissions. In 57.8% of the cases, the cause of the first unplanned readmission was related to the cause of the first admission, and in 90.64% of the cases, the cause of the subsequent unplanned readmission was related to the cause of the first unplanned readmission. The most common reason for the first unplanned readmission was postoperative complications (18.75%), whereas pneumonia (10.81%) was the most common reason for subsequent unplanned readmissions. Most patients with subsequent unplanned readmissions were also found to have either isolated central nervous system pathology or chronic complex medical conditions. Conclusion: Internationally, the rate of unplanned readmissions in pediatric patients has been estimated to be 6.5% within 30 days, which is comparable to the results of our study (5.12%). Most of the causes of first and subsequent unplanned readmission were found to be related to primary admission. The diagnosis/causes of readmission vary depending on the patient's age. A predictive model for pediatric readmission should be established so that preventive measures can be implemented.

Impact of a same day admission project in reducing the preoperative bed occupancy demand in a pediatric inpatient hospital.

Background: A same day admission approach was established for pediatric patients undergoing elective surgery owing to an increase in demand for bed availability and the need for medical, logistical, psychological, and fiscal improvements. This study aimed to assess the effectiveness of the same day admission approach for reducing demand for preoperative bed occupancy in pediatric inpatient units. Method: Data on elective surgery patients considered for same day admission were prospectively collected in an Excel spreadsheet. Results: Same day admission patients numbered 269 (25.87%; n = 1040), 461 (41.7%; n = 1104), 382 (38.67%; n = 998), and 560 (44.20%; n = 1267) in 2018, 2019, 2020, and 2021, respectively. Over the 4-year period between 2018 and 2021, pediatric orthopedic surgeries accounted for the majority of same day admissions (29.72%; n = 497), followed by ear, nose, and throat (21.30%; n = 356), general (16.99%; n = 284), plastic (14.53%; n = 243); urology (9.87%; n = 165); optometry and ophthalmology (3.77%; n = 63); neuro (2.51%; n = 42), and dental (1.31%; n = 22) surgeries. The total number of days of saved preoperative beds over the 4-year period was 1672 days (an average of 418 hospital days per year). Conclusions: This study showed that same day admission approach should be implemented in pediatrics institutions to reduce hospital bed demand. The implementation of this initiative is widely variable between specialties due to interlinked medical, operational, and logistical factors. Level of Evidence: III.

Myocardial Infarction in a 7-Year-Old Girl with Polyarteritis Nodosa.

Polyarteritis nodosa (PAN) is a rare systemic vasculitis that affects small to medium-sized arteries. It could affect any organ including the heart. However coronary artery involvements are very rare. We describe a young girl who presented following a histopathological diagnosis of PAN with acute chest pain, high serum troponin, and progressive ischemic changes in the electrocardiogram (ECG). Induction of remission of her disease was done with six-moths Cyclophosphamide infusions and pulse corticosteroids. In addition to anticoagulation and dual antithrombotic therapy, the disease remission was maintained with mycophenolate mofetil which helps in the recovery of coronary disease. Our case illustrates the serious cardiac involvement of PAN in a child that responded to intensive management.

Prevalence and Clinical Characterization of Bocavirus Infection in a Specialized Children's Hospital in Saudi Arabia.

Aim The aim of this study was to assess the prevalence and clinical characterization of bocavirus infection in patients admitted with respiratory symptoms to a specialized children's hospital in Riyadh, Saudi Arabia. Methods This is a retrospective cross-sectional study that included children aged 0-14 years and was conducted over a two-year period (2017-2019). All data were gathered from an electronic information recording system, which included patients' demographics, comorbidities, clinical presentation, complication, and duration of hospitalization. Results Among all patients (11,709) admitted to King Abdullah Specialized Children's Hospital with predominant respiratory symptoms during the study period, 193 (1.6%) patients had bocavirus infections. Most of the patients were diagnosed in winter months. Cough was the primary presenting symptom (91.7%) followed by fever (83.4%). Gastrointestinal symptoms were also common (anorexia in 62% and vomiting in 39%). In 80% (n=154/193) of cases, bocavirus co-existed with other viruses, namely, human rhinovirus (45.8%), human adenovirus (31.2%), and respiratory syncytial virus type A (17.5%). Moreover, those who required oxygen supply stayed longer in the hospital (p<0.001) and were more likely to receive multiple medications such as bronchodilators (p<0.001), corticosteroids (p<0.001), and nebulized racemic epinephrine (p>0.05). Children infected with bocavirus and co-existing viruses were less likely to require oxygen supply (p<0.050). Conclusion Bocavirus infection is more common during winter months and predominantly affects respiratory and gastrointestinal systems in children. More studies are needed to evaluate the global impact of this recently recognized infection.

Temporomandibular joint involvement in children with juvenile idiopathic arthritis: A single tertiary-center experience.

OBJECTIVES: To describe the clinical and laboratory characteristic, state the treatment and outcome of patients with juvenile idiopathic arthritis (JIA), and describe temporomandibular joint (TMJ) involvement as observed in a large tertiary center. METHODS: A retrospective cross-sectional study of children diagnosed with JIA was assessed at King Abdullah Specialist Children's Hospital, Riyadh, Saudi Arabia (2015-2019), which included a descriptive analysis of children who had TMJ involvement among our study group. Subjects diagnosed with the TMJ arthritis were based either on clinical musculoskeletal examination or using contrast-enhanced MRI. RESULTS: We reviewed 123 cases with different JIA subtypes (57% females). The most frequent subtype is the oligoarticular (36%). TMJ involvement was found in 16% (n=20/123) of the patients, of whom 45% had Polyarticular JIA. The rheumatoid factor was positive in 25%; antinuclear antibody (ANA) in 45% and none showed positivity to HLAB27. Treatment resulted in complete resolution in 95% of cases, while Micrognathia and obstructive sleep apnea were the complications reported in 5% of cases. CONCLUSION: TMJ involvement in JIA is not uncommon. Females with polyarticular disease were more frequently affected with TMJ arthritis. Positive ANA could be a risk factor for TMJ involvement, while positive HLAB27 might have some protective effects. Early treatment for TMJ arthritis is essential to avoid possible complications.

SARS-CoV-2 infection in children, clinical characteristics, diagnostic findings and therapeutic interventions at a tertiary care center in Riyadh, Saudi Arabia.

BACKGROUND: Coronavirus disease 2019 (COVID-19) pandemic caused by SARS-CoV-2 was first identified in Wuhan, China. All ages are susceptible to SARS-CoV-2 infection. Few studies had reported milder course in children however, severe course of illness has been reported. We aimed to describe the clinical features of COVID-19 in pediatric patients including diagnostic findings and therapeutic interventions in sever disease manifestation. METHODS: We retrospectively reviewed 742 patients with SARS-CoV-2 proven infection at King Abdullah Specialist Children's Hospital, from April 2020 and July 2020. Inpatients, outpatient, including those with sever manifestation treated at the Intensive Care Unit (ICU) were included. We collected data including demographic data, comorbidities, symptoms, imaging data, laboratory findings, treatments and clinical outcomes of patients with COVID-19. RESULTS: Among of 742 patients, 71 (9.6%) were hospitalized. The median age of patients was 75 months old and 53.6 were male. A total of 461 (62.1%) had close contact with confirmed cases, 45 (6.1%) had no contact history, and 236 (31.8%) with unknown exposure risk. The most common symptoms at the onset of illness were fever (32.5%), respiratory symptoms (21%) and gastrointestinal symptoms (10.3%). Among the entire cohort, 7 patients were admitted to PICU with COVID-19 related symptoms, five patients diagnosed with MIS-C, one patient with Kawasaki, and one patient with pneumonia. All patients received supportive therapy, no antiviral treatment had been used however, in MIS-C patients IVIG had been given to all patients, five patients received Anakinra; and one patient received tocilizumab. CONCLUSIONS: In this study, children infected with SARS-CoV-2 are less likely to develop symptomatic or serious diseases. Among symptomatic children, the most common clinical features were fever and respiratory symptoms followed by gastrointestinal manifestations. The majority of infected children have reported contact with an infected individual. MIS-C associated with COVID-19 is a severe presentation of SARS-CoV-2 infection and of a major concern as an overlapping features with other diseases could happen, making the diagnosis challenging.

Juvenile Hemochromatosis: Rheumatic Manifestations of 2 Sisters Responding to Deferasirox Treatment. A Case Series and Literature Review.

Hereditary hemochromatosis (HH) is an inherited iron overload. The most common form of HH is type 1 hereditary hemochromatosis (HFE-related), which is associated with mutation of the HFE gene located on chromosome 6 and inherited in an autosomal recessive pattern. Type 2 hereditary hemochromatosis or juvenile hemochromatosis is less frequent autosomal recessive disease that results from mutations in the HJV gene on chromosome 1 (type2a) or the HAMP gene on chromosome19 (type2b). Mutation of type 2 transferrin receptor gene and mutation of the ferroportin gene result in hemochromatosis type 3 and hemochromatosis type 4, respectively. Juvenile hemochromatosis is characterized by an early onset of excess accumulation of iron in various organs. It could affect the liver, heart, pancreas and joints, resulting in arthropathy. Most juvenile hemochromatosis cases exhibit severe symptoms due to early onset. Cardiac and hypogonadism are the dominating features of the disease. Prevalence of arthropathy in juvenile hemochromatosis is higher than classic HH. Early diagnosis and intervention of juvenile hemochromatosis may prevent irreversible organ damage. The diagnosis can be made based on laboratory testing (of increased transferrin saturation, serum iron and ferritin levels), liver biopsy, imaging or genotype. According to international guidelines, treatment of HH is indicated when serum ferritin concentrations are above the upper limit of normal. We report two sisters who presented to the rheumatology clinic with arthralgia, which was subsequently found to have a homozygous mutation variant of unknown significance in the HFE2 gene: c.497A>G;p.(His166Arg) and has been treated with deferasirox (Exjade®). Musculoskeletal symptoms completely resolved in both patients in two months and remained so for one year on treatment.

Hospital preparedness and management of pediatric population during COVID-19 outbreak.

With the recent pandemic of Coronavirus disease-2019 (COVID-19), there has been a higher number of reported cases in children more than to the prior Corona Virus-related diseases, namely, severe acute respiratory syndrome and the Middle East respiratory syndrome. The rate of COVID-19 in children is lower than adults; however, due to high transmission rate, the number of reported cases in children has been increasing. With the rising numbers among children, it is imperative to develop preparedness plans for the pediatric population at the hospital level, departmental level, and patient care areas. This paper summarizes important considerations for pediatric hospital preparedness at the hospital level that includes workforce, equipment, supply; capacity planning, and infection prevention strategies, it also span over the management of COVID-19 pediatric patients in high-risk areas such as critical care areas, Emergency Department and operative rooms.

Relapsing polychondritis in children: A review.

Relapsing polychondritis (RP) is a rare auto-immune disease that causes progressive destruction of cartilaginous structures. Most cases of pediatric-onset RP were published as a single case report or hand-full case series although the prevalence of RP is unknown. This review aimed to describe the characteristics of pediatric-onset RP in order to provide a comparison between childhood and adulthood features of the disease and to review the experiences of biological agents used in children with RP. In children, the diagnosis of RP is either delayed or overlooked due to low incidence and variability in clinical features. Treatment of RP is challenging due to the recurrent episodic nature of the disease. Different immunosuppressive medications, including steroid and steroid-sparing disease-modifying antirheumatic drugs (DMARDs), such as methotrexate or azathioprine, are used to treat RP. There is no rigorous clinical research to support the use of new therapeutic modalities, including biological agents. It is challenging to protocolize the treatment of pediatric-onset RP due to the rarity of the disease. Corticosteroids are the primary form of therapy. However, DMARDs and biological agents may have a role in treating patients with sustained or refractory disease.

Acute rheumatic fever diagnosis and management: Review of the global implications of the new revised diagnostic criteria with a focus on Saudi Arabia.

Rheumatic fever (RF) is a common cause of acquired heart disease in children worldwide. It is a delayed, nonsuppurative, autoimmune phenomenon following pharyngitis, impetigo, or scarlet fever caused by group A ß-hemolytic streptococcal (GAS) infection. RF diagnosis is clinical and based on revised Jones criteria. The first version of the criteria was developed by T. Duckett Jones in 1944, then subsequently revised by the American Heart Association (AHA) in 1992 and 2015. However, RF remains a diagnostic challenge for clinicians because of the lack of specific clinical or laboratory findings. As a result, it has been difficult for some time to maintain a balance between over- and underdiagnosis of RF cases. The Jones criteria were revised in 2015 by the AHA, and the main modifications were as follows: the population was subdivided into moderate- to high-risk and low risk; the concept of subclinical carditis was introduced; and monoarthritis was included as a feature of musculoskeletal inflammation in the moderate- to high-risk population. This review will highlight the major changes in the AHA 2015 revised Jones criteria for pediatricians and general practitioners.

A rare cutaneous manifestation of Kawasaki disease.

Kawasaki disease (KD) is the second common vasculitis in childhood following Henoch-Schönlein purpura. The common skin manifestations in KD are polymorphic exanthema, epidermal desquamation, erythema of the palms and soles and edema over the extremities. Skin erythema at the Bacille-Calmette-Guérin (BCG) vaccination site has been reported frequently in patients with KD. Skin ulceration after BCG vaccination in a context of KD was also reported but not as a part of the disease manifestation. We report a 14-month-old child who presented with clinical criteria for KD and developed left forearm ulcer that did not respond to antimicrobial therapy but responded well to immunomodulatory therapy.

Limited auricular relapsing polychondritis in a child treated successfully with infliximab.

Relapsing polychondritis (RP) is a rare progressive and destructive multisystem disorder characterised by recurrent inflammation of cartilaginous structures. It is a rare disease in paediatrics compared with adults. In children, the diagnosis is either delayed or overlooked due to low incidence. Auricular chondritis has been described in more than half of paediatric cases with RP. However, isolated auricular chondritis has not been reported as the only presentation of pediatric-onset RP. We described a lad who presented with isolated auricular chondritis, which is refractory to conventional treatment, including glucocorticoids and methotrexate as steroid-sparing agent. Remission of his disease's relapses was sustained with infliximab. Limited auricular involvement as a presenting feature of RP in the absence of systemic association is very rare in children. We describe a case of successful use of infliximab on limited auricular chondritis disease.

Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis.

Adenosine deaminase-2 (ADA2) deficiency (DADA2) is associated with early onset polyarteritis nodosa and vasculopathy. Classic presentation includes livedo reticularis, vasculitis, and stroke. However, the phenotype and disease severity are variable. We present a 5-year-old female who presented with features that mimicked autoimmune lymphoproliferative syndrome (ALPS) in the absence of classic features of DADA2. Exome sequencing identified a novel homozygous splicing variant in ADA2 c.882-2A > G. Patient responded to anti- tumor necrosis factor medication and is in complete remission. Hematologists should be aware of various hematological presentations of DADA2, including ALPS-like disorder, that might lack vasculitis and livedo reticularis to prevent delay in initiating optimal therapy.