Research & Literature
Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.
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Children's Hospital of Philadelphia
Philadelphia, United States
Boston Children's Hospital
Boston, United States
Great Ormond Street Hospital
London, United Kingdom
University of Washington
Seattle, United States
Duke University
Durham, United States
Baylor College of Medicine
Houston, United States
Erasmus MC
Rotterdam, The Netherlands
Hôpital Necker-Enfants Malades
Paris, France
University of California, San Francisco
San Francisco, United States
University of Toronto
Toronto, Canada
References
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The Value of Serum Amyloid A Levels in Familial Mediterranean Fever to Identify Occult Inflammation During Asymptomatic Periods.
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Pattern-based Histologic Approach in Very Early Onset IBD: Main Features and Differential Diagnosis.
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Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma.
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Role of Social Workers in Family Conferences for Critically Ill Infants.
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Journal of palliative medicine 2022; (25(8)):1236-1242 doi:10.1089/jpm.2021.0574.
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Diagnostic Modalities in Primary Immunodeficiency.
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Clinical reviews in allergy & immunology 2022; (63(1)):90-98 doi:10.1007/s12016-022-08933-1.
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Clinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel Disease.
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The clinical, molecular, and therapeutic features of patients with IL10/IL10R deficiency: a systematic review.
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How Physicians Discuss Uncertainty With Parents in Intensive Care Units.
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Pediatrics 2022; (149(6)) doi:10.1542/peds.2021-055980.
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Beyond Infections: New Warning Signs for Inborn Errors of Immunity in Children.
Costagliola G, Peroni DG, Consolini R
Frontiers in pediatrics 2022; (10()):855445 doi:10.3389/fped.2022.855445.
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Basic anthropometry, micronutrients status and growth velocity of patients with early-onset inflammatory bowel disease: A prospective cohort study.
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Arab journal of gastroenterology : the official publication of the Pan-Arab Association of Gastroenterology 2022; (23(4)):270-276 doi:10.1016/j.ajg.2022.06.004.
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Prevalence and presentation of neonatal sepsis at a paediatric emergency department in Johannesburg, South Africa.
Clotilde TS, Motara F, Laher AE
African journal of emergency medicine : Revue africaine de la medecine d'urgence 2022; (12(4)):362-365 doi:10.1016/j.afjem.2022.07.013.
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Canakinumab for the treatment of autoinflammatory very early onset- inflammatory bowel disease.
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Frontiers in immunology 2022; (13()):972114 doi:10.3389/fimmu.2022.972114.
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Risk factors and preventive strategies for post-traumatic stress disorder in neonatal intensive care unit.
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Frontiers in psychology 2022; (13()):1003566 doi:10.3389/fpsyg.2022.1003566.
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The ALIGN Framework: A Parent-Informed Approach to Prognostic Communication for Infants With Neurologic Conditions.
Lemmon ME, Barks MC, Bansal S, et al.
Neurology 2023; (100(8)):e800-e807 doi:10.1212/WNL.0000000000201600.
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Group Psychotherapy for Parents of Youth with Pediatric Acute-Onset Neuropsychiatric Syndrome.
Ellerkamp H, Thienemann M, Tinero J, et al.
Journal of clinical psychology in medical settings 2023; (30(3)):660-672 doi:10.1007/s10880-022-09926-0.
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The Prevalence of PTSD of Mothers and Fathers of High-Risk Infants Admitted to NICU: A Systematic Review.
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Clinical child and family psychology review 2023; (26(1)):33-49 doi:10.1007/s10567-022-00421-4.
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Genomic diagnosis and care co-ordination for monogenic inflammatory bowel disease in children and adults: consensus guideline on behalf of the British Society of Gastroenterology and British Society of Paediatric Gastroenterology, Hepatology and Nutrition.
Kammermeier J, Lamb CA, Jones KDJ, et al.
The lancet. Gastroenterology & hepatology 2023; (8(3)):271-286 doi:10.1016/S2468-1253(22)00337-5.
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Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.
Sharma M, Leung D, Momenilandi M, et al.
The Journal of experimental medicine 2023; (220(5)) doi:10.1084/jem.20221755.
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Positive Newborn Screening for Severe Combined Immunodeficiency: What Should the Pediatrician Do?
Mongkonsritragoon W, Huang J, Fredrickson M, et al.
Clinical medicine insights. Pediatrics 2023; (17()):11795565231162839 doi:10.1177/11795565231162839.
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Inborn Errors of Immunity in Children with Autoimmune and Allergic Complaints: A Single Center Experience from Diagnosis to Treatment.
Boz V, Tesser A, Girardelli M, et al.
Biomedicines 2023; (11(5)) doi:10.3390/biomedicines11051299.
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Proposal of Slovenian guidelines for the diagnosis of neonatal erythroderma with a case report of Omenn syndrome.
Starbek Zorko M, Štublar Krašovec A, Dragoš V
Acta dermatovenerologica Alpina, Pannonica, et Adriatica 2023; (32(2)):57-61.
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Supporting Disclosure of Unmet Mental Health Needs among Parents of Critically Ill Infants.
Bansal S, Willis R, Barks MC, et al.
The Journal of pediatrics 2023; (262()):113596 doi:10.1016/j.jpeds.2023.113596.
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Diversity of Parent Emotions and Physician Responses During End-of-Life Conversations.
Prins S, Linn AJ, van Kaam AHLC, et al.
Pediatrics 2023; (152(3)) doi:10.1542/peds.2022-061050.
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Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards.
Uhlig HH, Booth C, Cho J, et al.
Nature reviews. Gastroenterology & hepatology 2023; (20(12)):810-828 doi:10.1038/s41575-023-00838-4.
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Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study.
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BMJ open 2024; (14(2)):e080529 doi:10.1136/bmjopen-2023-080529.
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Cord Blood Transplantation for Very Early-Onset Inflammatory Bowel Disease Caused by Interleukin-10 Receptor Deficiency.
Wang P, Qian X, Jiang W, et al.
Journal of clinical immunology 2024; (44(3)):67 doi:10.1007/s10875-024-01669-x.
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Genomic testing identifies monogenic causes in patients with very early-onset inflammatory bowel disease: a multicenter survey in an Iranian cohort.
Eslamian G, Jamee M, Momen T, et al.
Clinical and experimental immunology 2024; (217(1)):1-11 doi:10.1093/cei/uxae037.
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Reducing postoperative hypothermia in infants: Quality improvement in China.
Qiu Q, Yang Z, Zhang Y, et al.
Paediatric anaesthesia 2024; (34(8)):773-782 doi:10.1111/pan.14910.
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Psychological Outcomes in Families of PICU Survivors: A Meta-Analysis.
Ko MSM, Lee WK, Sultana R, et al.
Pediatrics 2024; (154(1)) doi:10.1542/peds.2023-064210.
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Monogenic Inborn Errors of Immunity with impaired IgG response to polysaccharide antigens but normal IgG levels and normal IgG response to protein antigens.
Fasshauer M, Dinges S, Staudacher O, et al.
Frontiers in pediatrics 2024; (12()):1386959 doi:10.3389/fped.2024.1386959.
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Experiences of the Parents of Children Admitted to PICU.
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Indian journal of critical care medicine : peer-reviewed, official publication of Indian Society of Critical Care Medicine 2024; (28(7)):696-701 doi:10.5005/jp-journals-10071-24653.
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Infantile and Very Early Onset Inflammatory Bowel Disease: A Multicenter Study.
Guz-Mark A, Aloi M, Scarallo L, et al.
Pediatrics 2024; (154(2)) doi:10.1542/peds.2023-064546.
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Inborn Errors of Immunity in Early Childhood: Essential Insights for the Neonatologist.
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Neonatology 2024; (121(5)):646-655 doi:10.1159/000540436.
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Rapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
Niehues T, von Hardenberg S, Velleuer E
Allergologie select 2024; (8()):304-323 doi:10.5414/ALX02520E.
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A Seat at the Table: Family Conferences for Infants with Neurological Conditions.
Young KA, Field NK, Nanduri N, et al.
Journal of palliative medicine 2025; (28(1)):18-25 doi:10.1089/jpm.2024.0272.
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Hereditary Multiple Intestinal Atresia With a Novel TTC7A Pathogenic Variant: Gastrointestinal Manifestations in Two Cases.
Badawi MA, Alkhoori A, Alkaabi AS, et al.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2025; (28(1)):74-77 doi:10.1177/10935266241284949.
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Red flags to suspect inborn errors of immunity in patients with autoimmune diseases
Vélez N, De Ávila J, Cortés J, et al.
Biomedica : revista del Instituto Nacional de Salud 2024; (44(Sp. 2)):236-262 doi:10.7705/biomedica.7561.
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Clinical utility of the lymphocyte proliferation assay, an in vitro functional readout of the adaptive immune response.
Lázár-Molnár E, Peterson LK
Journal of immunological methods 2025; (537()):113819 doi:10.1016/j.jim.2025.113819.
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Successful Use of Anakinra in a Patient with IL-10R Beta Deficiency: A Case Report.
Dogan S, Selen R, Ozbay Hosnut F, et al.
Pediatric allergy, immunology, and pulmonology 2025; (38(1)):32-35 doi:10.1089/ped.2024.0116.
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NF-κB pathway variants in Iranian patients with inborn errors of immunity.
Fathi N, Abolhassani H, Salami F, et al.
Expert review of clinical immunology 2025; (21(5)):667-681 doi:10.1080/1744666X.2025.2500608.
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Post-traumatic stress disorder specific to parents in the neonatal intensive care unit.
McKeown L, Pervin S, Burke K, et al.
Australian critical care : official journal of the Confederation of Australian Critical Care Nurses 2025; (38(4)):101257 doi:10.1016/j.aucc.2025.101257.
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Managing the clinical heterogeneity of patients with Still's disease, from early diagnosis to timely treatment.
Ruscitti P, Cantarini L, Ciccia F, et al.
Autoimmunity reviews 2025; (24(10)):103880 doi:10.1016/j.autrev.2025.103880.
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From Genes to Gut: Understanding Diagnosis and Treatment in Very Early Onset Inflammatory Bowel Disease.
Konys C, Usman Y, Runde J
Pediatric annals 2025; (54(8)):e280-e285 doi:10.3928/19382359-20250612-04.
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An animal model of NLRC4-associated autoinflammation and infantile enterocolitis reveals novel therapeutic strategies.
Wang Y, Gao JZ, Gurung P, et al.
Cellular & molecular immunology 2025; (22(12)):1567-1580 doi:10.1038/s41423-025-01355-x.
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Case Report: Novel IL10RB variant causing very early onset-inflammatory bowel disease.
Usman Y, Ptak CP, Cohran VC, et al.
Frontiers in immunology 2025; (16()):1655475 doi:10.3389/fimmu.2025.1655475.
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Italian pediatric experts' consensus statement on diagnosis and management of primary atopic disorders.
Cardinale F, Taietti I, Sgrulletti M, et al.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2025; (36(11)):e70225 doi:10.1111/pai.70225.
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Nutritional Approach in Pediatric Patients with Inflammatory Bowel Disease: Treatment, Risk and Challenges.
Capra ME, Bellani AM, Berzieri M, et al.
Nutrients 2025; (17(22)) doi:10.3390/nu17223545.
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Neonatal Erythroderma: Diagnostic Challenges and the Limitations of Genetic Testing.
Phipps J, Popescu O
Cureus 2025; (17(11)):e96134 doi:10.7759/cureus.96134.
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Disseminated BCG infection and rotavirus enteritis in an infant with severe immunodeficiency: a causal association study.
Cai J, Li S, Xu J, et al.
Frontiers in public health 2025; (13()):1695162 doi:10.3389/fpubh.2025.1695162.
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Targeted therapies and their outcomes in monogenic very early onset inflammatory bowel disease: a systematic review.
Abhari AP, Rezvanian P, Sohrabi E, et al.
BMC gastroenterology 2026; (26(1)):113 doi:10.1186/s12876-025-04592-6.
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Managing the Uncertainty of "Precision" While Navigating Goals of Care: A Framework for Collaborative Interpretation of Complex Genomic Testing Results in Critically-Ill Neonates.
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Children (Basel, Switzerland) 2025; (13(1)) doi:10.3390/children13010034.
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Case Report: Infant with vaccine-associated paralytic poliomyelitis unveils global disparities in care for inborn errors of immunity.
Chan CM, Fong ESS, Yeo DYC, et al.
Frontiers in immunology 2026; (17()):1751423 doi:10.3389/fimmu.2026.1751423.
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A Comprehensive Review of IL-10 and IL-10 Receptor Deficiencies: From Basic Science to Clinical Bedside.
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Clinical reviews in allergy & immunology 2026; (69(1)).
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Netherton Syndrome in a preterm newborn presenting with erythroderma and temperature instability: a case report.
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BMC pediatrics 2026; (26(1)).
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Enhanced clinical decision-making to optimize targeted gene panel testing for inborn errors of immunity.
Udomkittivorakul N, Zhang J, Arora J, et al.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2026; (137(3)):387-395.e9 doi:10.1016/j.anai.2026.04.010.
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Tricho-Hepato-Enteric Syndromic Immunodeficiency: Clinical Spectrum, Pathobiology, and Emerging Therapies.
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The Israel Medical Association journal : IMAJ 2026; (28(8)):487-493.
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