{"title":"Anaphylactic Induction of Lupus Nephritis and Posterior Reversible Encephalopathy Syndrome Following Administration of Depo-Provera.","authors":"Adaora Ezeani, Sarah Staskiewicz","doi":"10.1155/crii/6631845","DOIUrl":"10.1155/crii/6631845","url":null,"abstract":"<p><p>Systemic lupus erythematosus (SLE) is a multifactorial autoimmune disease in which environmental and medication-related exposures may precipitate disease onset or flares in susceptible individuals, which can result in lupus nephritis (LN) and, in rare cases, posterior reversible encephalopathy syndrome (PRES). Immediate hypersensitivity reactions preceding the initial presentation of SLE have rarely been described. We report that a 21-year-old Hispanic woman developed airway-compromising angioedema, encephalopathy, and generalized tonic-clonic seizures, requiring intubation after her first depot medroxyprogesterone acetate (DMPA) injection. Brain magnetic resonance imaging (MRI) demonstrated PRES with extensive posterior vasogenic edema consistent with PRES with hemorrhagic transformation and bilateral posterior cerebral artery vasoconstriction. Laboratory evaluation revealed acute kidney injury with proteinuria, hypocomplementemia, positive antinuclear and antidouble-stranded DNA antibodies, and positive SSA antibodies. Kidney biopsy confirmed class IV diffuse LN. Treatment included pulse corticosteroids, seizure prophylaxis, immunosuppressants, and antihypertensive therapy, resulting in neurological and renal recovery. Although causality cannot be inferred, the temporal sequence raises the hypothesis that immune activation associated with DMPA exposure, or hypersensitivity to one of its excipients, may have contributed to the clinical unmasking of autoimmune disease.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"6631845"},"PeriodicalIF":0.9,"publicationDate":"2026-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13483091/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148799103","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Hamidreza Ashayeri, Shabnam Eskandarzadeh, Samin Alavi, Mohammad Saberi, Azadeh Reshadmanesh
{"title":"Serine/Threonine Kinase 4 Deficiency Caused by a Potential Novel c.248del, p.Pro83Leufs∗3 Mutation: A Case Report.","authors":"Hamidreza Ashayeri, Shabnam Eskandarzadeh, Samin Alavi, Mohammad Saberi, Azadeh Reshadmanesh","doi":"10.1155/crii/8573882","DOIUrl":"10.1155/crii/8573882","url":null,"abstract":"<p><strong>Background: </strong>Serine/threonine kinase 4 (STK4) deficiency is one of the rare causes of combined immunodeficiency (CID). In this study, we report a novel mutation causing STK4 deficiency, which presents with chronic pyelonephritis, an uncommon presentation.</p><p><strong>Case presentation: </strong>A 10-year-old female with an incidental mass in the kidney extending to the liver, night sweats, and fever was presented. To reduce the mass effect and rule out the possibility of malignancy, the patient underwent a nephrectomy, and a biopsy revealed chronic pyelonephritis. After surgery, due to the persistent leukopenia, the chance of an inborn error of immunity was considered. The patient was referred to the immunology clinic.</p><p><strong>Investigations: </strong>Immunophenotyping revealed low levels of CD3 and CD4. The antibody titer did not show a significant rise after receiving diphtheria and tetanus vaccines. Whole-exome sequencing was performed, and a novel homozygous c.248del, p.Pro83Leufs <sup>∗</sup>3 variant was reported in the <i>STK4</i> gene. The presence of this variant in parents was also confirmed with Sanger sequencing.</p><p><strong>Conclusion: </strong>STK4 deficiency is a rare cause of CID characterized by susceptibility to recurrent infections. Our case shows immune dysfunction manifested as a complex inflammatory syndrome, featuring an abdominal mass that mimics malignancy, expanding the recognized clinical spectrum of this condition.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"8573882"},"PeriodicalIF":0.9,"publicationDate":"2026-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13474485/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148759388","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Granulomatosis With Polyangiitis Presenting as Pulmonary Nodules: A Case Study and Literature Review.","authors":"Yanghang Chen, Haihong Zheng, Liuyang Gong","doi":"10.1155/crii/6977376","DOIUrl":"10.1155/crii/6977376","url":null,"abstract":"<p><p>This article presents a case of myeloperoxidase-antineutrophil cytoplasmic antibody (MPO-ANCA)-positive granulomatosis with polyangiitis (GPA) presenting initially as chronic cough. Pulmonary shadows persisted and progressed despite antibiotic therapy. The diagnosis was confirmed by lung biopsy showing granulomatous inflammation with vasculitis, and the patient improved significantly with glucocorticoids combined with cyclophosphamide. This report, supplemented by a review of relevant literature, aims to enhance clinical awareness of this disease and emphasizes the importance of considering vasculitis and obtaining pathological confirmation in cases of refractory pulmonary lesions.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"6977376"},"PeriodicalIF":0.9,"publicationDate":"2026-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13402936/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148608428","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Seyed Reza Abdipour Mehrian, Sarah Ravankhah, Kiarash Kavari, Elahe Meftah, Hadis Jafarian, Somayeh Khajeh, Hadi Mottaghipisheh, Ali Amanati
{"title":"BCG-Related Immune Reconstitution Inflammatory Syndrome and Delayed Donor Chimerism After Allogeneic HSCT in T<sup>-</sup>B<sup>-</sup>NK<sup>+</sup> SCID: A Successful Report of Steroid-Sparing Management.","authors":"Seyed Reza Abdipour Mehrian, Sarah Ravankhah, Kiarash Kavari, Elahe Meftah, Hadis Jafarian, Somayeh Khajeh, Hadi Mottaghipisheh, Ali Amanati","doi":"10.1155/crii/3971651","DOIUrl":"10.1155/crii/3971651","url":null,"abstract":"<p><strong>Background: </strong>Severe combined immunodeficiency (SCID) is a life-threatening disorder that requires early hematopoietic stem cell transplantation (HSCT). In regions where Bacillus Calmette-Guérin (BCG) vaccination is routinely administered at birth, disseminated BCG disease significantly complicates the clinical course in infants. Post-HSCT, immune reconstitution inflammatory syndrome (IRIS) poses an additional challenge, particularly in patients with active mycobacterial infections and mixed chimerism.</p><p><strong>Case presentation: </strong>We describe a female infant with T<sup>-</sup>B<sup>-</sup>NK<sup>+</sup> SCID who developed disseminated BCG disease after routine BCG vaccination. At 6 months, she underwent HSCT from an HLA-matched sibling without a conditioning regimen, according to the EBMT/ESID guidelines for T<sup>-</sup>B<sup>-</sup>NK SCID. Donor chimerism was undetectable on two early occasions (days +14 and +28), initially raising concerns of graft failure. During this window, the patient developed paradoxical BCG-related IRIS, progressive lymphadenitis, and fever, which ultimately coincided with the first emergence of donor cells rather than graft loss. Corticosteroids were withheld because of the risk of infection and rejection. Instead, escalation of multidrug antimycobacterial therapy (intensified by adding amikacin and clarithromycin) led to clinical improvement. Subsequent testing demonstrated stable mixed donor chimerism (21% at +40, 23% at +60, and 51% at 8 months) with progressive donor T-cell reconstitution and the absence of graft-versus-host disease (GVHD). At the most recent follow-up, ~16 months after HSCT, the patient remained clinically well.</p><p><strong>Conclusion: </strong>This case highlights the diagnostic and therapeutic dilemmas in managing SCID patients with BCG disease after HSCT. Early negative chimerism does not always predict graft failure, and paradoxical IRIS should be considered when clinical deterioration coincides with immune recovery after HSCT. Our findings suggest that conservative corticosteroid-sparing management with intensified antimycobacterial therapy may improve outcomes.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"3971651"},"PeriodicalIF":0.9,"publicationDate":"2026-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13403762/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148608473","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mani Maheshwari, Brian Swick, Benjamin Davis, Petar Lenert
{"title":"Not All That Itches Is DRESS: A Case Report of Lichenified Dermatosis and Hypereosinophilia Associated With Tocilizumab.","authors":"Mani Maheshwari, Brian Swick, Benjamin Davis, Petar Lenert","doi":"10.1155/crii/8016268","DOIUrl":"10.1155/crii/8016268","url":null,"abstract":"<p><p>Drug-induced hypereosinophilic syndromes (HESs) have been associated with a variety of medications, including biologic agents. We present a case of an 85-year-old female with a history of giant cell arteritis (GCA) complicated by ascending aortic aneurysm and aortitis, who developed marked peripheral eosinophilia (peaking at 3710/µL) and a persistent pruritic papular rash during long-term tocilizumab therapy. Extensive infectious, hematologic, and immunologic evaluations were unrevealing. While the clinical picture raised concern for a drug-induced hypersensitivity reaction, histopathology was more consistent with lichen simplex chronicus, and there was no evidence of systemic organ involvement. Her eosinophilia and cutaneous symptoms improved significantly after discontinuing tocilizumab, implicating the drug as a possible trigger. This case highlights the diagnostic challenges in distinguishing drug reaction with eosinophilia and systemic symptoms (DRESS) from other drug-induced or idiopathic dermatoses in patients receiving biologic therapy and underscores the importance of clinicopathologic correlation in guiding management.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"8016268"},"PeriodicalIF":0.9,"publicationDate":"2026-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13378402/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148580068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Roshna Devi, Huda Raja, Prithvi Raj, Muhammad Hassan Ahsan, Abdullah Nadeem, Nahid Raufi
{"title":"Diagnosing Hyper IgE Syndrome in a Resource-Limited Setting: A Case Report Highlighting the Utility of Clinical Scoring and Multidisciplinary Management.","authors":"Roshna Devi, Huda Raja, Prithvi Raj, Muhammad Hassan Ahsan, Abdullah Nadeem, Nahid Raufi","doi":"10.1155/crii/5929061","DOIUrl":"10.1155/crii/5929061","url":null,"abstract":"<p><strong>Background: </strong>Hyperimmunoglobulin E syndrome (HIES), also known as Job's syndrome, is an uncommon primary immunodeficiency disorder characterized by markedly elevated serum IgE levels, recurrent infections, both bacterial and fungal, and distinct skeletal and connective tissue anomalies. This report discusses the case of a 3-year-old female patient who presented with a history of recurrent chest infections, pustule formation, and local abscesses, and investigation revealed high levels of IgE, and she was eventually diagnosed with HIES.</p><p><strong>Case presentation: </strong>A 3-year-old girl from Karachi presented with a 1-year history of recurrent pustular skin eruptions initially involving the scalp and face, later spreading across the body. The lesions appeared in clusters, drained pus, resolved with pigmentation changes, and recurred every few weeks. She also had recurrent fever, episodes of diarrhea, frequent upper respiratory tract infections (URTIs), and poor weight gain. Her past treatment included multiple oral antibiotics and incision and drainage of an axillary abscess. On examination, she appeared pale, undernourished, and had widespread pustular lesions and localized abscesses, particularly over the parotid and neck regions, along with palpable cervical lymphadenopathy. Laboratory findings showed microcytic anemia, eosinophilia, leukocytosis, elevated ESR (erythrocyte sedimentation rate), and significantly raised serum IgE (7162 IU/mL), with normal IgG, IgM, and IgA levels. Methicillin-resistant <i>Staphylococcus aureus</i> (MRSA) was isolated from skin cultures, <i>E. coli</i> from blood culture, and <i>Giardia lamblia</i> from stool. A lymph node biopsy confirmed suppurative lymphadenitis. Based on clinical features and immunological profile, a diagnosis of Hyper IgE Syndrome was made, although genetic confirmation could not be obtained due to limited resources.</p><p><strong>Conclusion: </strong>Early recognition is essential to prevent complications, guide appropriate management, and offer genetic counseling. This case emphasizes the importance of maintaining a high index of suspicion in patients with recurrent infections.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"5929061"},"PeriodicalIF":0.9,"publicationDate":"2026-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13329827/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148392166","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A Novel MYO5A Mutation (c.3508C>T) in a 27-Month-Old Girl With Hypotonia and Developmental Delay: Expanding the Phenotypic Spectrum of Griscelli Syndrome Type 1.","authors":"Davoud AmirKashani, Soudabeh Hosseini, Marziyeh Mojbafan, Niusha Sharifinejad, Sima Bahrami","doi":"10.1155/crii/3883928","DOIUrl":"10.1155/crii/3883928","url":null,"abstract":"<p><strong>Background: </strong>Griscelli syndrome (GS) is a rare autosomal recessive disorder, characterized by pigmentary dilution of hair and skin. There are three known types of this disease. GS type 1 (GS1), due to mutations in <i>MYO5A</i>, is associated with neurological impairment and hypotonia, while GS type 2 (GS2; <i>RAB27A</i> variants) involves immune dysregulation (hemophagocytic lymphohistiocytosis [HLH]) and GS type 3 (<i>MLPH</i> variants) causes isolated pigmentary defects.</p><p><strong>Case presentation: </strong>We report a 27‑month‑old Afghan girl, born to consanguineous parents, presenting with developmental delay and hypotonia without the classic silvery hair. A complete evaluation was performed to determine the cause of the developmental delay. Whole exome sequencing revealed a novel homozygous MYO5A variant (c.3508C >T), confirming GS1. Despite the absence of the characteristic silvery hair, microscopic hair examination of the patient showed melanin distribution abnormalities.</p><p><strong>Conclusion: </strong>This case highlights the phenotypical variability in GS1 and emphasizes on the importance of considering genetic testing even in atypical presentations. Exploring these novel mutations can expand the known genotype/phenotype spectrum of GS1.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"3883928"},"PeriodicalIF":0.9,"publicationDate":"2026-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13311309/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148353726","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Erin Eickholt, Victoria Norelli, Kathleen Martin, Marina Diioia
{"title":"Supplemental Bee Pollen Ingestion With Resultant Anaphylaxis and Allergic Asthma: Case Report.","authors":"Erin Eickholt, Victoria Norelli, Kathleen Martin, Marina Diioia","doi":"10.1155/crii/9583906","DOIUrl":"10.1155/crii/9583906","url":null,"abstract":"<p><p>Bee pollen has become an increasingly popular dietary supplement due to potential therapeutic effects. However, ingestion has been shown to trigger allergic responses as severe as anaphylaxis. This case highlights allergic asthma development in a 26-year-old female patient with subsequent anaphylaxis secondary to bee pollen ingestion. This patient presented to the emergency department with complaints of lip and tongue swelling, dyspnea, nausea, abdominal pain, and itching 4 h after bee pollen ingestion. Her medical history included seasonal allergic rhinitis and prior exercise-induced asthma that had not required treatment for 10 years. She was treated with a standard anaphylaxis pharmacological regimen and discharged. The patient then began to experience dyspnea and wheezing 1 month later during peak fall pollen levels. On allergy testing, the patient's total serum immunoglobulin E (IgE) was elevated at 189 kU/L. She also had elevated specific IgE to common ragweed, mugwort, and cocklebur, which are prominent allergens in the fall. Given the timing of onset of new symptoms, partial relief with an inhaled short-acting B2 agonist, and no pertinent findings for other causes, the patient was subsequently diagnosed with allergic asthma secondary to bee pollen ingestion. Although anaphylaxis to bee pollen is rare, it is becoming increasingly reported in literature and demonstrates an adverse effect that can occur when proper regulation and education are not performed. Dietary supplements like bee pollen need to have further testing and contain more thorough warnings on labels to decrease adverse events and protect people from undue harm.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"9583906"},"PeriodicalIF":0.9,"publicationDate":"2026-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13306523/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148346701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lucía Ferrer Clavería, Verónica Perciun, María Teresa Sobrevía Elfau, Beatriz Rojas-Hijazo, José Luis Cubero Saldaña, M Ángeles López-Matas
{"title":"Dragon Fruit Allergy With Cross-Reactivity to <i>Salsola kali</i> and Peach.","authors":"Lucía Ferrer Clavería, Verónica Perciun, María Teresa Sobrevía Elfau, Beatriz Rojas-Hijazo, José Luis Cubero Saldaña, M Ángeles López-Matas","doi":"10.1155/crii/5321048","DOIUrl":"10.1155/crii/5321048","url":null,"abstract":"<p><p>Dragon fruit, also known as pitahaya, has become increasingly popular in Europe and the United States owing to its nutritional value and potential health-promoting properties. This study describes a patient with anaphylaxis after the ingestion of dragon fruit. We present the case of a patient who experienced a systemic reaction requiring hospitalization 1 h after consuming dragon fruit. His medical history includes allergic rhinitis to <i>Salsola kali</i> pollen. The diagnostic worked-up included prick-by-prick testing with fruits, skin prick testing with aeroallergens, and measurement of specific IgE using ImmunoCAP and ISAC. These tests confirmed sensitization to dragon fruit, several pollens including <i>S. kali</i>, and peach allergens. A protein extract was prepared from dragon fruit pulp. In the protein profile, the most intense bands were observed at 9, 26, and 54 kDa. The patient's IgE recognized multiple bands ranging from 16 to >100 kDa. Immunoblot inhibition demonstrated cross-reactivity: <i>S. kali</i> extract almost completely inhibited IgE recognition of dragon fruit proteins, leaving only faint recognition of a 54-kDa band (identified as catalase), while peach peel extract completely inhibited IgE binding to the dragon fruit extract. In conclusion, sensitization to dragon fruit in this patient was probably due to cross-reactivity with <i>S. kali</i> and peach allergens. This case highlights the potential risks associated with the introduction of novel foods into the diet, particularly in patients previously sensitized to pollen or other plant-derived foods.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"5321048"},"PeriodicalIF":0.9,"publicationDate":"2026-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13284826/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148309788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A Novel Variant of CORO1A Gene Contributing to the Development of Primary Immunodeficiency in Children.","authors":"Alanoud Aljohani, Yazeed Alayed, Bashayer Alrasheed, Hamza Alghamdi, Mofareh Alzahrani, Khalid Alshaigi","doi":"10.1155/crii/3233892","DOIUrl":"10.1155/crii/3233892","url":null,"abstract":"<p><strong>Introduction: </strong>The case report describes a novel finding of a homozygous variant in the coronin 1A (CORO1A) gene, associated with atypical severe combined immunodeficiency (SCID) in a 9-year-old female patient with recurrent infections and unique immunological features, including periodic T-cell lymphocytosis and T- and B-cell lymphopenia.</p><p><strong>Case history and examination: </strong>A 9-year-old female with a known history of recurrent pneumonia presented to the emergency department with a 2-week history of intermittent fever, progressive lethargy, and pallor. Her past medical history was remarkable for multiple hospital admissions secondary to community-acquired pneumonia and urinary tract infections, totaling four admissions to date. Family history was significant for consanguinity between parents and a healthy 4-year-old younger male sibling. Chest computed tomography (CT) demonstrated bilateral diffuse centrilobular nodules, scattered ground-glass opacities, and left lower lobe consolidation, in addition to a tree-in-bud pattern. Immunological evaluation revealed T-cell lymphocytosis, B-cell lymphopenia, and a decreased CD4/CD8 ratio. Based on these findings, the pediatric allergy and immunology team recommended genetic testing for primary immunodeficiency. The panel identified a homozygous variant of uncertain significance (VUS) in the CORO1A gene. Pathogenic variants in CORO1A are associated with autosomal recessive CORO1A-related SCID.</p><p><strong>Conclusion: </strong>The novel homozygous variant in the CORO1A gene suggests the likelihood of an atypical form of SCID, characterized by periodic T-cell lymphocytosis, T-cell lymphopenia, B-cell lymphopenia, and a low CD4/CD8 ratio, expanding the spectrum of CORO1A deficiency.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"3233892"},"PeriodicalIF":0.9,"publicationDate":"2026-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13273391/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148279144","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}