Renal disorders in Autoimmune Polyendocrinopathy Candidiasis Ectodermal dystrophy (APECED): a systematic review

Authors: Mohammadreza Shafiei, Solale Hosseini, Soodeh Ghadimi, Mahbubeh Mirzaee, Mohammadamin Keikhah, Nastaran Ardalan, Masoumeh Mohkam, Mehrdad Tamiji, Mahnaz Jamee

Source: BMC Pediatrics, Vol 25, Iss 1, Pp 1-17 (2025)

Subject Terms: Autoimmune polyendocrinopathy, APECED, AIRE, Primary immunodeficiency, Inborn error of immunity, Nephrocalcinosis, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2431

Access URL: https://doaj.org/article/2eec548b5e3c4e5e9f254108c7e8c71c

Humoral and cell-mediated immune responses to COVID-19 vaccines up to 6 months post three-dose primary series in adults with inborn errors of immunity and their breakthrough infections

Authors: Dana Unninayar, Emilia L. Falcone, Hugo Chapdelaine, Donald C. Vinh, Karina A. Top, Beata Derfalvi, Thomas B. Issekutz, Hélène Decaluwe, Anne Pham-Huy, Julia Upton, Stephen D. Betschel, Tamar Rubin, Sneha Suresh, Nicola A. M. Wright, Luis Murguía-Favela, Tatiana Kalashnikova, Lisa Barrett, Sharon Oldford, Marc-Andre Langlois, Corey Arnold, Manish Sadarangani, Tinghua Zhang, Tim Ramsay, Dina Yazji, Juthaporn Cowan

Source: Frontiers in Immunology, Vol 15 (2025)

Subject Terms: COVID-19, vaccine response, inborn error of immunity, humoral immunity, cellular mediated immunity, immunogenicity, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1501908/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/e6198542dd7346009d446b888341ad3e

Corrigendum: Heterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4V340fs gain-of-function mutation

Authors: Yu Huang, Lu Li, Ran Chen, Lang Yu, Shunkai Zhao, Yanjun Jia, Ying Dou, Zhiyong Zhang, Yunfei An, Xuemei Tang, Xiaodong Zhao, Lina Zhou

Source: Frontiers in Immunology, Vol 15 (2025)

Subject Terms: CXCR4 variant, gain-of-function, inborn error of immunity, WHIM syndrome, heterogeneous phenotype, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1544964/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/fc5ca0f511454a53aae326a797ebc629

Case Report: Early-onset or recalcitrant cytopenias as presenting manifestations of activated PI3Kδ syndrome

Authors: Allison S. Remiker, Joao Pedro Matias Lopes, Rohith Jesudas, Alexandra Superdock, Nami Park, Irina Pateva

Source: Frontiers in Pediatrics, Vol 12 (2024)

Subject Terms: recalcitrant cytopenias, early-onset cytopenias, inborn error of immunity, activated PI3Kδ syndrome, case series, genetic testing, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1494945/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/317269bf14a544a7a261a738b6d71199

Evaluation of recurrent and recalcitrant warts in a deaf adolescent male reveals GATA2 deficiency

Authors: Dieu T. Doan, MD, Paige V. Strebeck, MD, Andrew D. Tran, MD, Jason E. Farrar, MD, Lauren E. Appell, MD, Arunkumar J. Modi, MBBS, MPH, Akilah A. Jefferson, MD, MSc

Source: Journal of Allergy and Clinical Immunology: Global, Vol 3, Iss 4, Pp 100313- (2024)

Subject Terms: Immunodeficiency, GATA2, GATA2 deficiency, inborn error of immunity, warts, cutaneous warts, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2772829324001097; https://doaj.org/toc/2772-8293

Access URL: https://doaj.org/article/1bcf5094ba034ed6a5988b6ba8312710

Heterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4V340fs gain-of-function mutation

Authors: Yu Huang, Lu Li, Ran Chen, Lang Yu, Shunkai Zhao, Yanjun Jia, Ying Dou, Zhiyong Zhang, Yunfei An, Xuemei Tang, Xiaodong Zhao, Lina Zhou

Source: Frontiers in Immunology, Vol 15 (2024)

Subject Terms: CXCR4 variant, gain-of-function, inborn error of immunity, WHIM syndrome, heterogeneous phenotype, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1460990/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/9872af50823f499b94fd1f59fc7c5f13

Inborn error of immunity associated with allergic and allergic like symptoms

Authors: Abbas khalili

Source: Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, Vol 32, Iss 1, Pp 7405-7415 (2024)

Subject Terms: primary immunodeficiency, allergy, eczema, dermatitis, inborn error of immunity., Medicine (General), R5-920

File Description: electronic resource

Relation: http://jssu.ssu.ac.ir/article-1-6088-en.pdf; https://doaj.org/toc/2228-5741; https://doaj.org/toc/2228-5733

Access URL: https://doaj.org/article/5d3704424c4d449f81c27d412e33522a

Combined therapy with IL-1 and JAK inhibitors in a patient with the NLRP1 gene mutation and a complex inflammatory phenotype

Authors: Vasily Burlakov, MD, Anna Kozlova, PhD, Dmitry Pershin, PhD, Yulia Rodina, MD, PhD, Igor Khamin, MD, Galina Novichkova, MD, PhD, Ivona Aksentijevich, PhD, Anna Shcherbina, MD, PhD

Source: Journal of Allergy and Clinical Immunology: Global, Vol 3, Iss 3, Pp 100251- (2024)

Subject Terms: Autoinflammatory disorder, dyskeratosis, NLRP1, inborn error of immunity, IL1RA-inhibitor, anakinra, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S277282932400047X; https://doaj.org/toc/2772-8293

Access URL: https://doaj.org/article/210227899b844bb195a274154294107a

Case Report: Aplastic anemia related to a novel CTLA4 variant

Authors: Geoffrey Hall, Janet G. Markle, James Maiarana, Paul L. Martin, Jennifer A. Rothman, John W. Sleasman, Howard Lederman, Antoine E. Azar, Robert A. Brodsky, Talal Mousallem

Source: Frontiers in Pediatrics, Vol 12 (2024)

Subject Terms: Aplastic anemia, inborn error of immunity (IEI), novel variant, CTLA-4, haploinsufficiency, hematopoietic stem cell transplantation (HSCT), Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1434076/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/5324ac2bf76d46c88d830dc944e94e14

Case Report: p40phox deficiency underlying pediatric-onset systemic lupus erythematosus

Authors: Alejandro Nieto-Patlán, Natalia S. Fernández Dávila, Yuqing Wang, Michelle Zelnick, Eyal Muscal, Martha Curry, James R. Lupski, Steven M. Holland, Bo Yuan, Douglas B. Kuhns, Tiphanie P. Vogel, Ivan K. Chinn

Source: Frontiers in Pediatrics, Vol 12 (2024)

Subject Terms: p40phox deficiency, NADPH oxidase complex, NCF4, reactive oxygen species, systemic lupus erythematosus, inborn error of immunity, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1425874/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/5926a4b411d84bacae707c1d876e5f92

Unraveling the unphosphorylated STAT3–unphosphorylated NF-κB pathway in loss of function STAT3 Hyper IgE syndrome

Authors: Adil Karim, Rashi Garg, Biman Saikia, Abha Tiwari, Smrity Sahu, Mehak Malhotra, Ranjana W. Minz, Amit Rawat, Surjit Singh, Deepti Suri

Source: Frontiers in Immunology, Vol 15 (2024)

Subject Terms: inborn error of immunity (IEI), primary immunodeficencies (PID), Hyper IgE syndrome (HIES), signal transducer and activator of transcription 3 (STAT3), Regulated upon Activation, normal T-cell expressed and secreted chemokines (RANTES), Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1332817/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/74133cf61e324bbfa36cdecfba5e5655

Sweet syndrome associated with moderate leukocyte adhesion deficiency type I: a case report and review of the literature

Authors: Yoshine Saito, Anupama Kewalramani, Xiao P. Peng, Aimee Magnarelli, Howard M. Lederman

Source: Frontiers in Immunology, Vol 15 (2024)

Subject Terms: inborn error of immunity (IEI), sweet syndrome, neutrophilic dermatosis, leukocyte adhesion deficiency type 1, whole exome sequencing, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1425289/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/2098303c667a4cd9b138ab73ec34ea13

Inborn errors of immunity in adulthood

Authors: Joanne J. F. Wang, Arün Dhir, Kyla J. Hildebrand, Stuart E. Turvey, Robert Schellenberg, Luke Y. C. Chen, Persia Pourshahnazari, Catherine M. Biggs

Source: Allergy, Asthma & Clinical Immunology, Vol 20, Iss 1, Pp 1-8 (2024)

Subject Terms: Inborn error of immunity, Primary immunodeficiency, Adulthood, Evaluation, Diagnosis, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://doaj.org/toc/1710-1492

Access URL: https://doaj.org/article/bef2be6a521b4c328034777f254ae817

Validating inborn error of immunity prevalence and risk with nationally representative electronic health record data

Authors: Rider, Nicholas L. ^{a, ∗, ‡}, Truxton, Ahuva ^b, Ohrt, Tracy ^b, Margolin-Katz, Irene ^b, Horan, Mary ^b, Shin, Harold ^c, Davila, Roger ^d, Tenembaum, Vanessa ^d, Quinn, Jessica ^d, Modell, Vicki ^d, Modell, Fred ^d, Orange, Jordan S. ^e, Branner, Almut ^{b, ∗}, Senerchia, Cynthia ^{b, ∗}

Source: In The Journal of Allergy and Clinical Immunology June 2024 153(6):1704-1710

Experience of pediatric to adult transition in immunology services: patient experience questionnaire and micro-costing analysis

Authors: Catherine King, Katie Ridge, James Smyth, Aisling M. Flinn, Timothy Ronan Leahy, Niall Conlon

Source: Frontiers in Immunology, Vol 15 (2024)

Subject Terms: inborn error of immunity, immunodeficiency, pediatric, transition, microcosting, patient experience survey, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1270451/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/d48650f28a6743b195857352f85da06f

Case Report: Profound newborn leukopenia related to a novel RAC2 variant

Authors: Geoffrey Hall, Ágnes Donkó, Cristina Pratt, Julie J. Kim-Chang, Paul L. Martin, Amy P. Stallings, John W. Sleasman, Steven M. Holland, Amy P. Hsu, Thomas L. Leto, Talal Mousallem

Source: Frontiers in Pediatrics, Vol 12 (2024)

Subject Terms: severe combined immunodeficiency, reticular dysgenesis, RAC2, inborn error of immunity, novel variant, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1365187/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/378194d6bbd641198e83f5f2775078f5

Shorter birth length and decreased T-cell production and function predict severe infections in children with non–severe combined immunodeficiency cartilage–hair hypoplasia

Authors: Eetu Pello, MD, Leena Kainulainen, MD, PhD, Mikko Vakkilainen, MSc, Paula Klemetti, MD, PhD, Mervi Taskinen, MD, PhD, Outi Mäkitie, MD, PhD, Svetlana Vakkilainen, MD, PhD

Source: Journal of Allergy and Clinical Immunology: Global, Vol 3, Iss 1, Pp 100190- (2024)

Subject Terms: Immunodeficiency, inborn error of immunity, lymphopenia, machine learning, RMRP, TREC, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2772829323001157; https://doaj.org/toc/2772-8293

Access URL: https://doaj.org/article/ab35bfd8701d45edb02fe235ad93b1ef

Oral findings in patients with cartilage-hair hypoplasia - cross-sectional observational study

Authors: Heidi Arponen, Svetlana Vakkilainen, Jaana Rautava, Outi Mäkitie

Source: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)

Subject Terms: Immunodeficiency, Inborn error of immunity, Cartilage-hair hypoplasia, Periodontitis, Oral mucosal lesion, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/5e125b08c8f64f8b82d3dc05923cde5f

JAGN1 mutation with distinct clinical features; two case reports and literature review

Authors: Mahsa Hojabri, Yeganeh Farsi, Mahnaz Jamee, Hassan Abolhassani, Hedieh Haji Khodaverdi Khani, Abdollah Karimi, Mehrnaz Mesdaghi, Zahra Chavoshzadeh, Samin Sharafian

Source: BMC Pediatrics, Vol 23, Iss 1, Pp 1-7 (2023)

Subject Terms: Jagunal homolog 1, Severe congenital neutropenia, JAGN1, Inborn error of immunity, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2431

Access URL: https://doaj.org/article/4657443782c44d6194d1852aacdd3447

Chronic granulomatous disease in the United Arab Emirates: clinical and molecular characteristics in a single center

Authors: Amna Ali Al Kuwaiti, Ahmed Darwaish Al Dhaheri, Moza Al Hassani, Zbigniew Ruszczak, Ahmad Alrustamani, Walid Abuhammour, Gehad El Ghazali, Suleiman Al-Hammadi, Hiba M. Shendi

Source: Frontiers in Immunology, Vol 14 (2023)

Subject Terms: chronic granulomatous disease, inborn error of immunity, United Arab Emirates, NCF1, infections, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2023.1228161/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/8328e698aa92446a9c28df5d7da0718d