Research & Literature

PLAID: a Syndrome of Complex Patterns of Disease and Unique Phenotypes.

Milner JD

Journal of clinical immunology 2015; (35(6)):527-30 doi:10.1007/s10875-015-0177-x.

Cool-temperature-mediated activation of phospholipase C-γ2 in the human hereditary disease PLAID.

Schade A, Walliser C, Wist M, et al.

Cellular signalling 2016; (28(9)):1237-1251 doi:10.1016/j.cellsig.2016.05.010.

Ocular Manifestations of Inherited Phospholipase-Cγ2-Associated Antibody Deficiency and Immune Dysregulation.

Di Zazzo A, Tahvildari M, Florakis GJ, Dana R

Cornea 2016; (35(12)):1656-1657 doi:10.1097/ICO.0000000000000951.

The NLRP3 and Pyrin Inflammasomes: Implications in the Pathophysiology of Autoinflammatory Diseases.

de Torre-Minguela C, Mesa Del Castillo P, Pelegrín P

Frontiers in immunology 2017; (8()):43 doi:10.3389/fimmu.2017.00043.

Immunoglobulin replacement therapy in primary and secondary antibody deficiency: The correct clinical approach.

Pecoraro A, Crescenzi L, Granata F, et al.

International immunopharmacology 2017; (52()):136-142 doi:10.1016/j.intimp.2017.09.005.

Functional characterization of phospholipase C-γ2 mutant protein causing both somatic ibrutinib resistance and a germline monogenic autoinflammatory disorder.

Walliser C, Wist M, Hermkes E, et al.

Oncotarget 2018; (9(76)):34357-34378 doi:10.18632/oncotarget.26173.

Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa.

Neves JF, Doffinger R, Barcena-Morales G, et al.

Frontiers in immunology 2018; (9()):2863 doi:10.3389/fimmu.2018.02863.

The Expanding Field of Secondary Antibody Deficiency: Causes, Diagnosis, and Management.

Patel SY, Carbone J, Jolles S

Frontiers in immunology 2019; (10()):33 doi:10.3389/fimmu.2019.00033.

Differentiating characteristics and evaluating intravenous and subcutaneous immunoglobulin.

Ness S

The American journal of managed care 2019; (25(6 Suppl)):S98-S104.

Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Diseases: Current Status and Future Perspectives.

Castagnoli R, Delmonte OM, Calzoni E, Notarangelo LD

Frontiers in pediatrics 2019; (7()):295 doi:10.3389/fped.2019.00295.

Expanding the clinical features of autoinflammation and phospholipase Cγ2-associated antibody deficiency and immune dysregulation by description of a novel patient.

Morán-Villaseñor E, Saez-de-Ocariz M, Torrelo A, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2019; (33(12)):2334-2339 doi:10.1111/jdv.15918.

A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases.

Novice T, Kariminia A, Del Bel KL, et al.

Journal of clinical immunology 2020; (40(2)):267-276 doi:10.1007/s10875-019-00731-3.

A new report of autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) with a homozygous pattern from Iran.

Khabbazi A, Rahbar Kafshboran H, Nasiri Aghdam M, et al.

Immunology letters 2020; (221()):27-32 doi:10.1016/j.imlet.2020.01.008.

Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.

Martín-Nalda A, Fortuny C, Rey L, et al.

Journal of clinical immunology 2020; (40(7)):987-1000 doi:10.1007/s10875-020-00794-7.

Influenza-specific IgG1+ memory B-cell numbers increase upon booster vaccination in healthy adults but not in patients with predominantly antibody deficiency.

Hartley GE, Edwards ESJ, Bosco JJ, et al.

Clinical & translational immunology 2020; (9(10)):e1199 doi:10.1002/cti2.1199.

Immunoglobulin Replacement Therapy Versus Antibiotic Prophylaxis as Treatment for Incomplete Primary Antibody Deficiency.

Smits BM, Kleine Budde I, de Vries E, et al.

Journal of clinical immunology 2021; (41(2)):382-392 doi:10.1007/s10875-020-00841-3.

Severe epidermolysis bullosa/Kindler syndrome-like phenotype of an autoinflammatory syndrome in a child.

Mahajan R, Bishnoi A, Manjunath S, et al.

Clinical and experimental dermatology 2021; (46(4)):795-799 doi:10.1111/ced.14557.

Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience.

Suri D, Rawat A, Jindal AK, et al.

Frontiers in immunology 2021; (12()):630691 doi:10.3389/fimmu.2021.630691.

Case Report: A Rare Case of Autoinflammatory Phospholipase Cγ2 (PLCγ2)-Associated Antibody Deficiency and Immune Dysregulation Complicated With Gangrenous Pyoderma and Literature Review.

Wu N, Zhang B, Wang T, et al.

Frontiers in immunology 2021; (12()):667430 doi:10.3389/fimmu.2021.667430.

Ocular involvement in monogenic autoinflammatory disease.

Maccora I, Marrani E, Mastrolia MV, et al.

Autoimmunity reviews 2021; (20(11)):102944 doi:10.1016/j.autrev.2021.102944.

A novel likely pathogenic PLCG2 variant in a patient with a recurrent skin blistering disease and B-cell lymphopenia.

Park HS, Oh A, Keum CW, et al.

European journal of medical genetics 2022; (65(1)):104387 doi:10.1016/j.ejmg.2021.104387.

Response to Severe Acute Respiratory Syndrome Coronavirus 2 Initial Series and Additional Dose Vaccine in Patients With Predominant Antibody Deficiency.

Barmettler S, DiGiacomo DV, Yang NJ, et al.

The journal of allergy and clinical immunology. In practice 2022; (10(6)):1622-1634.e4 doi:10.1016/j.jaip.2022.03.017.

Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review.

Welzel T, Oefelein L, Holzer U, et al.

Journal of clinical medicine 2022; (11(15)) doi:10.3390/jcm11154369.

Clinical and immunological features of an APLAID patient caused by a novel mutation in PLCG2.

Peng Q, Luo D, Yang Y, et al.

Frontiers in immunology 2023; (14()):1014150 doi:10.3389/fimmu.2023.1014150.

PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants.

Baysac K, Sun G, Nakano H, et al.

The Journal of allergy and clinical immunology 2024; (153(1)):230-242 doi:10.1016/j.jaci.2023.08.036.

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.

Characterization of a Novel Pathogenic PLCG2 Variant Leading to APLAID Syndrome Responsive to a TNF Inhibitor.

Yang Z, Tao P, Han X, et al.

Arthritis & rheumatology (Hoboken, N.J.) 2024; (76(11)):1670-1678 doi:10.1002/art.42948.

Immunoglobulin therapy for immunodeficiency.

Wilson BE, Freeman CM

Allergy and asthma proceedings 2024; (45(5)):364-370 doi:10.2500/aap.2024.45.240053.

Case Report: de novo in-frame deletion in PLCG2 gene: a case report of B-cell lymphopenia, pulmonary bullae, and cutis laxa.

Wu X, Zhang J, Shen M

Frontiers in immunology 2025; (16()):1556372 doi:10.3389/fimmu.2025.1556372.

A scoping review of clinical management guidelines in inborn errors of immunity.

Murray C, Santangeli E, Mockler D, et al.

The Journal of allergy and clinical immunology 2025; (156(6)):1715-1724 doi:10.1016/j.jaci.2025.08.015.

Overlap of familial Mediterranean fever and APLAID treated with anakinra: a case-based review.

Akoglu G, Yaz I, Esenboga S, et al.

Clinical rheumatology 2025; (44(12)):5143-5154 doi:10.1007/s10067-025-07760-x.

Early-onset bibasilar emphysema in a patient with PLCG2-related immune dysregulation.

Sundlof A, Nathan J, Gerhard GS, Salerno D

Respiratory medicine case reports 2025; (58()):102308 doi:10.1016/j.rmcr.2025.102308.

Neurological manifestations and vasculopathy in PLCG2-associated antibody deficiency and immune dysregulation (APLAID): a case series.

Asna Ashari K, MacRae R, Hoytema van Konijnenburg DP, et al.

Pediatric rheumatology online journal 2026; (24(1)).