Research & Literature

The E3 ligase Itch in immune regulation and beyond.

Aki D, Zhang W, Liu YC

Immunological reviews 2015; (266(1)):6-26 doi:10.1111/imr.12301.

An IκB Kinase-Regulated Feedforward Circuit Prolongs Inflammation.

Perez JM, Chirieleison SM, Abbott DW

Cell reports 2015; (12(4)):537-44.

Itch WW Domains Inhibit Its E3 Ubiquitin Ligase Activity by Blocking E2-E3 Ligase Trans-thiolation.

Riling C, Kamadurai H, Kumar S, et al.

The Journal of biological chemistry 2015; (290(39)):23875-87 doi:10.1074/jbc.M115.649269.

Structural basis for the regulatory role of the PPxY motifs in the thioredoxin-interacting protein TXNIP.

Liu Y, Lau J, Li W, et al.

The Biochemical journal 2016; (473(2)):179-87 doi:10.1042/BJ20150830.

Itch inhibits IL-17-mediated colon inflammation and tumorigenesis by ROR-γt ubiquitination.

Kathania M, Khare P, Zeng M, et al.

Nature immunology 2016; (17(8)):997-1004 doi:10.1038/ni.3488.

Vaccination in Primary Immunodeficiency Disorders.

Sobh A, Bonilla FA

The journal of allergy and clinical immunology. In practice 2016; (4(6)):1066-1075 doi:10.1016/j.jaip.2016.09.012.

Phosphorylation of the E3 ubiquitin protein ligase ITCH diminishes binding to its cognate E2 ubiquitin ligase.

Perez JM, Chen Y, Xiao TS, Abbott DW

The Journal of biological chemistry 2018; (293(3)):1100-1105 doi:10.1074/jbc.RA117.000408.

Primary immunodeficiency diseases in lung disease: warning signs, diagnosis and management.

Soler-Palacín P, de Gracia J, González-Granado LI, et al.

Respiratory research 2018; (19(1)):219 doi:10.1186/s12931-018-0923-8.

Mutation in ITCH Gene Can Cause Syndromic Multisystem Autoimmune Disease With Acute Liver Failure.

Kleine-Eggebrecht N, Staufner C, Kathemann S, et al.

Pediatrics 2019; (143(2)) doi:10.1542/peds.2018-1554.

Biallelic human ITCH variants causing a multisystem disease with dysmorphic features: A second report.

Brittain HK, Feary J, Rosenthal M, et al.

American journal of medical genetics. Part A 2019; (179(7)):1346-1350 doi:10.1002/ajmg.a.61169.

The E3 ubiquitin ligase Itch restricts antigen-driven B cell responses.

Moser EK, Roof J, Dybas JM, et al.

The Journal of experimental medicine 2019; (216(9)):2170-2183 doi:10.1084/jem.20181953.

Very Early Onset Inflammatory Bowel Disease: A Clinical Approach With a Focus on the Role of Genetics and Underlying Immune Deficiencies.

Ouahed J, Spencer E, Kotlarz D, et al.

Inflammatory bowel diseases 2020; (26(6)):820-842 doi:10.1093/ibd/izz259.

Evaluation of respiratory complications in patients with X-linked and autosomal recessive agammaglobulinemia.

Fekrvand S, Yazdani R, Olbrich P, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2020; (31(4)):405-417 doi:10.1111/pai.13228.

Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey.

Chan AY, Leiding JW, Liu X, et al.

Frontiers in immunology 2020; (11()):239 doi:10.3389/fimmu.2020.00239.

Itch regulation of innate and adaptive immune responses in mice and humans.

Field NS, Moser EK, Oliver PM

Journal of leukocyte biology 2020; (108(1)):353-362 doi:10.1002/JLB.3MIR0320-272R.

Primary immune regulatory disorders: a growing universe of immune dysregulation.

Chan AY, Torgerson TR

Current opinion in allergy and clinical immunology 2020; (20(6)):582-590 doi:10.1097/ACI.0000000000000689.

Pulmonary manifestations of immune dysregulation in CTLA-4 haploinsufficiency and LRBA deficiency.

Krone KA, Winant AJ, Vargas SO, et al.

Pediatric pulmonology 2021; (56(7)):2232-2241 doi:10.1002/ppul.25373.

Immune Dysregulation in Human ITCH Deficiency Successfully Treated with Hematopoietic Cell Transplantation.

Patel T, Henrickson SE, Moser EK, et al.

The journal of allergy and clinical immunology. In practice 2021; (9(7)):2885-2893.e3 doi:10.1016/j.jaip.2021.04.010.

Insights From Early Clinical Trials Assessing Response to mRNA SARS-CoV-2 Vaccination in Immunocompromised Patients.

Baron F, Canti L, Ariën KK, et al.

Frontiers in immunology 2022; (13()):827242 doi:10.3389/fimmu.2022.827242.

Retrospective, Landmark Analysis of Long-term Adult Morbidity Following Allogeneic HSCT for Inborn Errors of Immunity in Infancy and Childhood.

Day JW, Elfeky R, Nicholson B, et al.

Journal of clinical immunology 2022; (42(6)):1230-1243 doi:10.1007/s10875-022-01278-6.

Immunosuppression in Patients With Primary Immunodeficiency-Walking the Line.

Mustafa SS, Rider NL, Jolles S

The journal of allergy and clinical immunology. In practice 2022; (10(12)):3088-3096 doi:10.1016/j.jaip.2022.08.025.

ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction.

Wolfe R, Heiman P, D'Annibale O, et al.

Molecular genetics and metabolism reports 2022; (33()):100932 doi:10.1016/j.ymgmr.2022.100932.

Too much of a good thing: a review of primary immune regulatory disorders.

Tsilifis C, Slatter MA, Gennery AR

Frontiers in immunology 2023; (14()):1279201 doi:10.3389/fimmu.2023.1279201.

Infections in Disorders of Immune Regulation.

Thangaraj A, Tyagi R, Suri D, Gupta S

Pathogens (Basel, Switzerland) 2024; (13(3)) doi:10.3390/pathogens13030259.

Innovations in the care of childhood interstitial lung disease associated with connective tissue disease and immune-mediated disorders.

Samad A, Wobma H, Casey A

Pediatric pulmonology 2024; (59(9)):2321-2337 doi:10.1002/ppul.27068.

An efficient and successful outcome after haematopoietic stem cell transplantation in a patient with an LPS-responsive beige-like anchor gene mutation.

Shen C, Zhang L, Meng Y, et al.

Frontiers in pediatrics 2024; (12()):1420118 doi:10.3389/fped.2024.1420118.

Hematopoietic stem cell transplantation for CTLA-4 insufficiency across Europe: A European Society for Blood and Marrow Transplantation Inborn Errors Working Party study.

Tsilifis C, Speckmann C, Lum SH, et al.

The Journal of allergy and clinical immunology 2024; (154(6)):1534-1544 doi:10.1016/j.jaci.2024.08.020.

Inborn errors of immunity and invasive fungal infections: presentation and management.

Paccoud O, Warris A, Puel A, Lanternier F

Current opinion in infectious diseases 2024; (37(6)):464-473 doi:10.1097/QCO.0000000000001062.

Hematopoietic stem cell transplantation for primary immunodeficiency.

Alsaati N, Grier A, Ochfeld E, et al.

Allergy and asthma proceedings 2024; (45(5)):371-383 doi:10.2500/aap.2024.45.240069.

Immunodeficiency: Overview of primary immune regulatory disorders (PIRDs).

Nelson CS, Baloh CH

Allergy and asthma proceedings 2024; (45(5)):332-339 doi:10.2500/aap.2024.45.240070.

International multidisciplinary consensus on the definition and clinical approach for monogenic inflammatory immune dysregulation disorders.

Alkwai HM, Almaghlouth IA, Mendonça LO, et al.

Pediatric rheumatology online journal 2025; (23(1)):51 doi:10.1186/s12969-025-01109-z.

Radiological Patterns of Pediatric Non-cystic Fibrosis Bronchiectasis: A Retrospective Study From Oman.

Al Jabri M, Al Humaimi O, Al Yousufi F, et al.

Cureus 2025; (17(6)):e86516 doi:10.7759/cureus.86516.

ITCH Deficiency Causing Immunodeficiency and Immune Dysregulation.

Hernández A, Cerda C, María Vinet A, et al.

Pediatrics 2025; (156(5)) doi:10.1542/peds.2024-069311.

Case Report: Sustained immune and pulmonary recovery three years after hematopoietic stem cell transplantation for ITCH E3 ubiquitin ligase deficiency.

Ashe B, Neal E, Kurland G, et al.

Frontiers in immunology 2026; (17()):1805196 doi:10.3389/fimmu.2026.1805196.

Primary Immune Regulatory Disorders (PIRD): Tools for Diagnosis and Disease Activity Assessment to Guide Therapy.

Oved JH, Torgerson TR, Chan AY

The journal of allergy and clinical immunology. In practice 2026; (14(7)):1467-1474 doi:10.1016/j.jaip.2026.05.015.

Clinical Spectrum and Therapeutic Options in Monogenic CTLA-4-, LRBA-, or SOCS1-Related Primary Immune Regulatory Disorders.

Wang C, Durkee-Shock J, Ma CA, et al.

The journal of allergy and clinical immunology. In practice 2026; (14(7)):1477-1488 doi:10.1016/j.jaip.2026.02.039.

Multidisciplinary approach to early identification of inborn errors of immunity in patients with lymphoproliferation.

Alsina L, Celis Passini V, Garrido Colino C, et al.

Leukemia & lymphoma 2026; (67(11)):2192-2205 doi:10.1080/10428194.2026.2704265.

How I Treat: Transplantation for primary immune regulatory diseases and inflammatory disorders.

Oved JH

Journal of human immunity 2026; (2(6)) doi:10.70962/jhi.20250147.

Pulmonary Rehabilitation in Inborn Errors of Immunity with Bronchiectasis: A Narrative Review with Implications for High-Consanguinity Settings.

Alruwaili R, Albelasi A, Alqahtani MM

Journal of clinical medicine 2026; (15(20)) doi:10.3390/jcm15208131.