Research graph
References from Noninfectious Signs that an Inborn Error of Immunity Might Be Lurking Beneath. Local targets link to admitted publications; unresolved targets remain external evidence.
Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee
2025 · External reference
A systematic literature review of CVID reveals pervasive detrimental noninfectious manifestations
2026 · External reference
Treatment strategies for GLILD in common variable immunodeficiency: a systematic review
10.3389/fimmu.2021.606099 · 2021 · External reference
Interstitial lung disease in common variable immunodeficiency
10.3389/fimmu.2021.605945 · 2021 · External reference
Rituximab monotherapy is effective as first-line treatment for granulomatous lymphocytic interstitial lung disease (GLILD) in CVID patients
10.1007/s10875-023-01587-4 · 2023 · External reference
Rituximab and antimetabolite treatment of granulomatous and lymphocytic interstitial lung disease in common variable immunodeficiency
10.1016/j.jaci.2020.07.021 · 2021 · External reference
STAT3 gain-of-function syndrome
10.3389/fped.2022.770077 · 2023 · External reference
Early-onset, fatal interstitial lung disease in STAT3 gain-of-function patients
10.1002/ppul.25684 · 2021 · External reference
The pulmonary effects of STAT3 deficiency
10.1016/j.jaci.2023.06.003 · 2023 · External reference
Neutralizing GM-CSF autoantibodies in pulmonary alveolar proteinosis, cryptococcal meningitis and severe nocardiosis
10.1186/s12931-022-02103-9 · 2022 · External reference
COPA syndrome restricted to life-threatening alveolar hemorrhages: clinical, pathological, molecular and biological characterization
2018 · External reference
Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies
10.1016/j.jaci.2016.12.978 · 2017 · External reference
Bone and joint disease associated with primary immune deficiencies
10.1016/j.jbspin.2004.07.012 · 2005 · External reference
Autoimmune manifestations in primary immune deficiencies
10.1016/j.autrev.2008.11.004 · 2009 · External reference
Spectrum of large- and medium-vessel vasculitis in adults: neoplastic, infectious, drug-induced, autoinflammatory, and primary immunodeficiency diseases
10.1007/s11926-022-01083-5 · 2022 · External reference
ANCA vasculitis expands the spectrum of autoimmune manifestations of activated PI3 kinase δ syndrome
10.3389/fped.2023.1179788 · 2023 · External reference
Systemic lupus erythematosus and immunodeficiency
10.2478/rir-2021-0019 · 2021 · External reference
Coordinated immune dysregulation in juvenile dermatomyositis revealed by single-cell genomics
10.1172/jci.insight.176963 · 2024 · External reference
Shared pathogenetic features between common variable immunodeficiency and Sjögren’s syndrome: clues for a personalized medicine
10.3389/fimmu.2021.703780 · 2021 · External reference
Az elsődleges immunhiány-betegségek bőrmanifesztációi
10.1556/650.2018.30994 · 2018 · External reference
Skin manifestations of primary immune deficiency
10.1007/s12016-013-8377-8 · 2014 · External reference
Clinical manifestations, etiology, and pathogenesis of the hyper-IgE syndromes
10.1203/pdr.0b013e31819dc8c5 · 2009 · External reference
Autosomal dominant STAT6 gain of function causes severe atopy associated with lymphoma
10.1007/s10875-023-01530-7 · 2023 · External reference
Impaired thymic output and restricted T-cell repertoire in two infants with immunodeficiency and early-onset generalized dermatitis
10.1016/s0165-2478(02)00291-2 · 2003 · External reference
A novel mutation in SPINK5 gene underlies a case of atypical Netherton syndrome
2022 · External reference
Endocrinopathy in primary immunodeficiency patients: a single center retrospective study
10.21911/aai.2024.444 · 2024 · External reference
Autoimmune polyendocrine syndromes
10.1056/nejmra1713301 · 2018 · External reference
Endocrinopathies in inborn errors of immunity
10.3389/fimmu.2021.786241 · 2021 · External reference
Endocrine disorders in patients with inborn errors of immunity
10.3346/jkms.2025.40.e204 · 2025 · External reference
IPEX syndrome
1993 · External reference
Endocrine and growth disorders in Taiwanese children with 22q11.2 deletion syndrome
2022 · External reference
Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports
10.1111/jne.13287 · 2023 · External reference
Central diabetes insipidus in a patient with NFKB2 mutation: expanding the endocrine phenotype in DAVID syndrome
10.1210/jc.2019-00469 · 2019 · External reference
Clinical, immunological, and genetic features in patients with NFKB1 and NFKB2 mutations: a systematic review
10.1007/s10875-024-01763-0 · 2024 · External reference
Neurological involvement in patients with primary immunodeficiency
10.15586/aei.v52i1.961 · 2024 · External reference
A narrative review of the neurological manifestations of human adenosine deaminase 2 deficiency
10.1007/s10875-023-01555-y · 2023 · External reference
Neuroinflammation associated with inborn errors of immunity
10.3389/fimmu.2021.827815 · 2022 · External reference
Neurological manifestations of primary immunodeficiencies
2018 · External reference
Bridging the gap: neurodevelopmental disorder risks in inborn errors of immunity
10.1097/aci.0000000000001036 · 2024 · External reference
Purine nucleoside phosphorylase deficiency
1991 · External reference
Targeted treatment of autoimmune cytopenias in primary immunodeficiencies
10.3389/fimmu.2022.911385 · 2022 · External reference
Autoimmune cytopenias and associated conditions in CVID: a report from the USIDNET registry
10.1007/s10875-017-0456-9 · 2018 · External reference
Activated phosphoinositide 3-kinase δ syndrome: update from the ESID registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity
10.1016/j.jaci.2023.06.015 · 2023 · External reference
Immune checkpoint deficiencies and autoimmune lymphoproliferative syndromes
10.1016/j.bj.2021.04.005 · 2021 · External reference
Macrophage activation syndrome and secondary hemophagocytic lymphohistiocytosis in childhood inflammatory disorders: diagnosis and management
10.1007/s40272-019-00367-1 · 2020 · External reference
Promising targeted therapies for hemophagocytic lymphohistiocytosis: a translational perspective based on immunopathology
10.1007/s12016-025-09068-9 · 2025 · External reference
Primary immune regulatory disorders with an autoimmune lymphoproliferative syndrome-like phenotype: immunologic evaluation, early diagnosis and management
10.3389/fimmu.2021.671755 · 2021 · External reference
Cancer trends in inborn errors of immunity: a systematic review and meta-analysis
10.1007/s10875-024-01810-w · 2025 · External reference
Cancer in primary immunodeficiency diseases: cancer incidence in the United States Immune Deficiency Network Registry
10.1016/j.jaci.2017.05.024 · 2018 · External reference
Malignancies in the setting of primary immunodeficiency: implications for hematologists/oncologists
10.1002/ajh.21903 · 2011 · External reference
A systematic review on predisposition to lymphoid (B and T cell) neoplasias in patients with primary immunodeficiencies and immune dysregulatory disorders (inborn errors of immunity)
10.3389/fimmu.2019.00777 · 2019 · External reference
GATA2 deficiency and MDS/AML: experimental strategies for disease modelling and future therapeutic prospects
10.1111/bjh.18330 · 2022 · External reference
Exploring gastric cancer genetics: a turning point in common variable immunodeficiency
2024 · External reference
Immunogenetics of gastrointestinal cancers: a systematic review and retrospective survey of inborn errors of immunity in humans
10.1111/jgh.15848 · 2022 · External reference
Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation
10.1016/j.jaci.2016.07.039 · 2017 · External reference
Needs for increased awareness of gastrointestinal manifestations in patients with human inborn errors of immunity
10.3389/fimmu.2021.698721 · 2021 · External reference
Inflammatory bowel disease and mutations affecting the interleukin-10 receptor
10.1056/nejmoa0907206 · 2009 · External reference
TTC7A: steward of intestinal health
10.1016/j.jcmgh.2018.12.001 · 2019 · External reference
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
10.1038/83713 · 2001 · External reference
Evolution of our understanding of XIAP deficiency
10.3389/fped.2021.660520 · 2021 · External reference
Gastrointestinal involvement in chronic granulomatous disease
10.1542/peds.114.2.462 · 2004 · External reference
Treatment of IL-10RA deficiency of pediatric patients with very early onset inflammatory bowel disease by allogeneic haematopoietic stem cell transplantation
10.1038/s41598-025-92979-6 · 2025 · External reference
A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report
10.1186/s12876-015-0394-z · 2015 · External reference
Chronic granulomatous disease with inflammatory bowel disease: clinical presentation, treatment, and outcomes from the USIDNET registry
10.1016/j.jaip.2021.12.035 · 2022 · External reference
Gastrointestinal disorders associated with common variable immune deficiency (CVID) and chronic granulomatous disease (CGD)
10.1007/s11894-016-0491-3 · 2016 · External reference
Common variable immunodeficiency disorder-related liver disease is common and results in portal hypertension and an increased risk of death
10.1097/hc9.0000000000000322 · 2024 · External reference
