Research & Literature

JMML and RALD (Ras-associated autoimmune leukoproliferative disorder): common genetic etiology yet clinically distinct entities.

Calvo KR, Price S, Braylan RC, et al.

Blood 2015; (125(18)):2753-8 doi:10.1182/blood-2014-11-567917.

Somatic mosaicism for a NRAS mutation associates with disparate clinical features in RAS-associated leukoproliferative disease: a report of two cases.

Shiota M, Yang X, Kubokawa M, et al.

Journal of clinical immunology 2015; (35(5)):454-8 doi:10.1007/s10875-015-0163-3.

The importance of considering monogenic causes of autoimmunity: A somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus.

Ragotte RJ, Dhanrajani A, Pleydell-Pearce J, et al.

Clinical immunology (Orlando, Fla.) 2017; (175()):143-146 doi:10.1016/j.clim.2016.12.006.

T and B cell clonal expansion in Ras-associated lymphoproliferative disease (RALD) as revealed by next-generation sequencing.

Levy-Mendelovich S, Lev A, Rechavi E, et al.

Clinical and experimental immunology 2017; (189(3)):310-317 doi:10.1111/cei.12986.

Genotype and phenotype spectrum of NRAS germline variants.

Altmüller F, Lissewski C, Bertola D, et al.

European journal of human genetics : EJHG 2017; (25(7)):823-831 doi:10.1038/ejhg.2017.65.

[Ras-associated autoimmune leukoproliferative disorder: a report of 2 cases and literature review].

He TY, Li CR, Xia Y, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2017; (55(11)):853-857 doi:10.3760/cma.j.issn.0578-1310.2017.11.013.

Cutaneous involvement in an 8-year-old boy with Ras-associated autoimmune leucoproliferative disorder (RALD).

Giacaman A, Bauzá Alonso A, Salinas Sanz JA, et al.

Clinical and experimental dermatology 2018; (43(8)):913-916 doi:10.1111/ced.13668.

Status of KRAS in iPSCs Impacts upon Self-Renewal and Differentiation Propensity.

Kubara K, Yamazaki K, Ishihara Y, et al.

Stem cell reports 2018; (11(2)):380-394 doi:10.1016/j.stemcr.2018.06.008.

Weekly Rituximab Followed by Monthly Rituximab Treatment for Autoimmune Disease Associated With RAS-associated Autoimmune Leukoproliferative Disease.

Toyoda H, Deguchi T, Iwamoto S, et al.

Journal of pediatric hematology/oncology 2018; (40(8)):e516-e518 doi:10.1097/MPH.0000000000001276.

Superficial and Deep Cutaneous Involvement by RAS-Associated Autoimmunne Leukoproliferative Disease (RALD Cutis): A Histologic Mimicker of Histiocytoid Sweet Syndrome.

Tran TAN, Grow WB, Chang CC

The American Journal of dermatopathology 2019; (41(8)):606-610 doi:10.1097/DAD.0000000000001332.

RAS-associated Autoimmune Leukoproliferative disease (RALD) manifested with early-onset SLE-like syndrome: a case series of RALD in Chinese children.

Wang W, Zhou Y, Zhong L, et al.

Pediatric rheumatology online journal 2019; (17(1)):55 doi:10.1186/s12969-019-0346-1.

After 95 years, it's time to eRASe JMML.

Meynier S, Rieux-Laucat F

Blood reviews 2020; (43()):100652 doi:10.1016/j.blre.2020.100652.

Genetic heterogeneity of pediatric systemic lupus erythematosus with lymphoproliferation.

Li G, Li Y, Liu H, et al.

Medicine 2020; (99(20)):e20232 doi:10.1097/MD.0000000000020232.

Key diagnostic markers for autoimmune lymphoproliferative syndrome with molecular genetic diagnosis.

Molnár E, Radwan N, Kovács G, et al.

Blood 2020; (136(17)):1933-1945 doi:10.1182/blood.2020005486.

Clinical Spectrum of Ras-Associated Autoimmune Leukoproliferative Disorder (RALD).

Neven Q, Boulanger C, Bruwier A, et al.

Journal of clinical immunology 2021; (41(1)):51-58 doi:10.1007/s10875-020-00883-7.

Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS).

Casamayor-Polo L, López-Nevado M, Paz-Artal E, et al.

Critical reviews in clinical laboratory sciences 2021; (58(4)):253-274 doi:10.1080/10408363.2020.1855623.

Idiopathic splenomegaly in childhood and the spectrum of RAS-associated lymphoproliferative disease: a case report.

Blanchard-Rohner G, Ragotte RJ, Junker AK, et al.

BMC pediatrics 2021; (21(1)):45 doi:10.1186/s12887-021-02508-3.

Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD).

Papa R, Rusmini M, Schena F, et al.

Clinical immunology (Orlando, Fla.) 2021; (231()):108837 doi:10.1016/j.clim.2021.108837.

Analysis of five cases of monogenic lupus related to primary immunodeficiency diseases.

Su G, Lai J, Zhu J, et al.

Inflammation research : official journal of the European Histamine Research Society ... [et al.] 2021; (70(10-12)):1211-1216 doi:10.1007/s00011-021-01479-6.

Severe RAS-Associated Lymphoproliferative Disease Case with Increasing αβ Double-Negative T Cells with Atypical Features.

Kurita D, Shiba N, Ohya T, et al.

Journal of clinical immunology 2023; (43(8)):1992-1996 doi:10.1007/s10875-023-01566-9.

Monoallelic KRAS (G13C) mutation triggers dysregulated expansion in induced pluripotent stem cell-derived hematopoietic progenitor cells.

Lin HT, Takagi M, Kubara K, et al.

Stem cell research & therapy 2024; (15(1)):106 doi:10.1186/s13287-024-03723-2.

[Progress in diagnosis and treatment of RAS-related autoimmune lymphoproliferative disorder].

Ren JN, Wan Y, Zhu XF

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2025; (27(9)):1149-1155 doi:10.7499/j.issn.1008-8830.2502103.

Diffuse Large B-cell lymphoma in a Ras-Associated Autoimmune Leukoproliferative Disorder (RALD).

Sun C, Zhao L, Xia J, et al.

Annals of hematology 2025; (104(11)):6109-6113 doi:10.1007/s00277-025-06555-z.

Early-onset systemic lupus erythematosus in a patient with an inborn error of immunity caused by a NRAS mutation and treated with telitacicept.

Kang Z, Zhang L

Molecular and cellular pediatrics 2025; (12(1)):24 doi:10.1186/s40348-025-00212-1.

Recurrent and unusual infections unmasking a rare inborn error of immunity: a case report RAS-associated Autoimmune Lymphoproliferative Disease (RALD).

Ahmad Shawaludin MQ, Nik MAC, Zainudeen ZT, et al.

BMC pediatrics 2026; (26(1)).

Case Report: Haemopoietic stem cell transplantation in refractory paediatric RAS-associated lymphoproliferative disorder.

Senthil S, Matalliotakis MG, Hughes S, et al.

Frontiers in immunology 2026; (17()):1850700 doi:10.3389/fimmu.2026.1850700.

Juvenile Myelomonocytic Leukemia Presenting with Unusual Immunonologic Manifestations: Report of a Case with Multiple Somatic Genetic Aberrations Including KRAS and Novel ETV6 Mutations.

Brannock KR, Kaumeyer B, Nicol KK, et al.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2026; 10935266261466228 doi:10.1177/10935266261466228.

Ras-associated autoimmune leukoproliferative disorder associated with immune thrombotic thrombocytopenic purpura.

Carter MA, Innes AJ, Sen M, et al.

Research and practice in thrombosis and haemostasis 2026; (10(6)):106933 doi:10.1016/j.rpth.2026.106933.

Case Report: RAS-associated autoimmune leukoproliferative disorder presenting with early-onset liver failure in a 9-month-old Chinese girl.

Zheng L, Li D, Zhang T

Frontiers in pediatrics 2026; (14()):1943641 doi:10.3389/fped.2026.1943641.