Research & Literature

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2015; (17(5)):405-24 doi:10.1038/gim.2015.30.

Distinct Cutaneous Manifestations and Cold-Induced Leukocyte Activation Associated With PLCG2 Mutations.

Aderibigbe OM, Priel DL, Lee CC, et al.

JAMA dermatology 2015; (151(6)):627-34 doi:10.1001/jamadermatol.2014.5641.

Rac-mediated Stimulation of Phospholipase Cγ2 Amplifies B Cell Receptor-induced Calcium Signaling.

Walliser C, Tron K, Clauss K, et al.

The Journal of biological chemistry 2015; (290(28)):17056-72 doi:10.1074/jbc.M115.645739.

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.

Uveitis.

Dunn JP

Primary care 2015; (42(3)):305-23.

Secondary antibody deficiencies.

Dhalla F, Misbah SA

Current opinion in allergy and clinical immunology 2015; (15(6)):505-13 doi:10.1097/ACI.0000000000000215.

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.

Lung Disease in Primary Antibody Deficiencies.

Schussler E, Beasley MB, Maglione PJ

The journal of allergy and clinical immunology. In practice 2016; (4(6)):1039-1052 doi:10.1016/j.jaip.2016.08.005.

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.

Intravenous and subcutaneous immunoglobulin G replacement therapy.

Bonilla FA

Allergy and asthma proceedings 2016; (37(6)):426-431 doi:10.2500/aap.2016.37.3987.

When to initiate immunoglobulin replacement therapy (IGRT) in antibody deficiency: a practical approach.

Jolles S, Chapel H, Litzman J

Clinical and experimental immunology 2017; (188(3)):333-341 doi:10.1111/cei.12915.

Cold-induced Anaphylaxis: The Case of a 9-year-old Child and Review of the Literature.

Romita P, Mascia P, Calogiuri G, Foti C

Endocrine, metabolic & immune disorders drug targets 2017; (17(2)):96-99 doi:10.2174/1871530317666170703122939.

Screening protocols to monitor respiratory status in primary immunodeficiency disease: findings from a European survey and subclinical infection working group.

Jolles S, Sánchez-Ramón S, Quinti I, et al.

Clinical and experimental immunology 2017; (190(2)):226-234 doi:10.1111/cei.13012.

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.

Influenza Vaccination in Patients with Common Variable Immunodeficiency (CVID).

Mieves JF, Wittke K, Freitag H, et al.

Current allergy and asthma reports 2017; (17(11)):78 doi:10.1007/s11882-017-0749-3.

Prescribing Immunoglobulin Replacement Therapy for Patients with Non-classical and Secondary Antibody Deficiency: an Analysis of the Practice of Clinical Immunologists in the UK and Republic of Ireland.

Edgar JDM, Richter AG, Huissoon AP, et al.

Journal of clinical immunology 2018; (38(2)):204-213 doi:10.1007/s10875-017-0469-4.

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.

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.

PLAID syndrome: Characteristic presentation and a novel therapeutic option.

Shea J, Huynh T, Milner J, Chamlin S

Pediatric dermatology 2020; (37(1)):147-149 doi:10.1111/pde.13972.

Provider Perceptions of Quality of Life, Neurocognition, Physical Well-being, and Psychosocial Health in Patients with Primary Immunodeficiency/Immune Dysregulation Conditions.

Michniacki TF, Walkovich KJ, Merz LE, et al.

Journal of clinical immunology 2019; (39(8)):805-813 doi:10.1007/s10875-019-00703-7.

Prophylactic Antibiotics Versus Immunoglobulin Replacement in Specific Antibody Deficiency.

Joud Hajjar , Nguyen AL, Constantine G, et al.

Journal of clinical immunology 2020; (40(1)):158-164 doi:10.1007/s10875-019-00716-2.

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.

Alzheimer's-associated PLCγ2 is a signaling node required for both TREM2 function and the inflammatory response in human microglia.

Andreone BJ, Przybyla L, Llapashtica C, et al.

Nature neuroscience 2020; (23(8)):927-938 doi:10.1038/s41593-020-0650-6.

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.

Phosphatidylinositol(4,5)bisphosphate: diverse functions at the plasma membrane.

Katan M, Cockcroft S

Essays in biochemistry 2020; (64(3)):513-531 doi:10.1042/EBC20200041.

Treatment and management of primary antibody deficiency: German interdisciplinary evidence-based consensus guideline.

Hanitsch L, Baumann U, Boztug K, et al.

European journal of immunology 2020; (50(10)):1432-1446 doi:10.1002/eji.202048713.

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.

Specific Antibody Deficiency in Adult Patients With IgG or IgG Subclass Deficiency.

Kim JH, Jang JH, Lee SH, et al.

Allergy, asthma & immunology research 2021; (13(2)):271-283 doi:10.4168/aair.2021.13.2.271.

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.

Treatment Strategies for GLILD in Common Variable Immunodeficiency: A Systematic Review.

Lamers OAC, Smits BM, Leavis HL, et al.

Frontiers in immunology 2021; (12()):606099 doi:10.3389/fimmu.2021.606099.

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.

The role of PLCγ2 in immunological disorders, cancer, and neurodegeneration.

Jackson JT, Mulazzani E, Nutt SL, Masters SL

The Journal of biological chemistry 2021; (297(2)):100905 doi:10.1016/j.jbc.2021.100905.

Vaccination in PADs.

Milito C, Soccodato V, Collalti G, et al.

Vaccines 2021; (9(6)) doi:10.3390/vaccines9060626.

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.

[Prophylactic and therapeutic management of increased susceptibility to infection in patients with immunodeficiency].

Hanitsch LG

Der Internist 2022; (63(5)):484-492 doi:10.1007/s00108-022-01326-8.

British Society for Immunology and United Kingdom Primary Immunodeficiency Network (UKPIN) consensus guideline for the management of immunoglobulin replacement therapy.

Grigoriadou S, Clubbe R, Garcez T, et al.

Clinical and experimental immunology 2022; (210(1)):1-13 doi:10.1093/cei/uxac070.

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.

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.

A clinician's guide for administration of high-concentration and facilitated subcutaneous immunoglobulin replacement therapy in patients with primary immunodeficiency diseases.

Epland K, Suez D, Paris K

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2022; (18(1)):87 doi:10.1186/s13223-022-00726-7.

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.

G-CSF drives autoinflammation in APLAID.

Mulazzani E, Kong K, Aróstegui JI, et al.

Nature immunology 2023; (24(5)):814-826 doi:10.1038/s41590-023-01473-6.

Value of diagnostic vaccination in diagnosis of humoral inborn errors of immunity.

Hlongwa L, Peter J, Mayne E

Human immunology 2023; (84(5-7)):337-341 doi:10.1016/j.humimm.2023.04.004.

Diagnostic testing for interstitial lung disease in common variable immunodeficiency: a systematic review.

Bintalib HM, van de Ven A, Jacob J, et al.

Frontiers in immunology 2023; (14()):1190235 doi:10.3389/fimmu.2023.1190235.

Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency.

Alinger JB, Mace EM, Porter JR, et al.

The Journal of allergy and clinical immunology 2024; (153(1)):216-229 doi:10.1016/j.jaci.2023.09.002.

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.

Ocular involvement in adult and paediatric patients with monogenic autoinflammatory diseases: a Spanish multicentre retrospective study.

Fonollosa A, Pelegrín L, García-Morillo S, et al.

Clinical and experimental rheumatology 2023; (41(10)):2105-2114 doi:10.55563/clinexprheumatol/ukegcc.

Patient-reported outcomes in patients with primary immunodeficiency diseases in Japan: baseline results from a prospective observational study.

Kanegane H, Ishimura M, Kawai T, et al.

Frontiers in immunology 2023; (14()):1244250 doi:10.3389/fimmu.2023.1244250.

Splice site and de novo mutations can cause mixed dominant negative/gain of function PLCG2-associated immune dysregulation with cold urticaria (CU-PLAID).

Chou SR, Bailey AC, Baysac K, et al.

medRxiv : the preprint server for health sciences 2024; doi:10.1101/2024.03.16.24304180.

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.

Primary Immunodeficiency: Specific antibody deficiency with normal IgG.

Hatcher VR, Alix VC, Hellu TS, Schuldt MM

Allergy and asthma proceedings 2024; (45(5)):321-325 doi:10.2500/aap.2024.45.240057.

Splice site and de novo variants can cause PLCG2-associated immune dysregulation with cold urticaria.

Chou SR, Bailey AC, Baysac K, et al.

The Journal of allergy and clinical immunology 2025; (155(3)):1045-1049.e4 doi:10.1016/j.jaci.2024.06.025.

Multidisciplinary approach to treating complex immune dysregulation disorders: an adaptive model for institutional implementation.

Henderson LA, Abraham RS, Ahmed A, et al.

Frontiers in immunology 2025; (16()):1519955 doi:10.3389/fimmu.2025.1519955.

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.

Cold urticaria patients can be susceptible to anaphylaxis during diagnostic cold provocation tests.

Proença M, Marcelino J, Vieira J, Tomaz E

BMJ case reports 2025; (18(6)) doi:10.1136/bcr-2024-261489.

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.

Cold-Induced Urticarias with Familial Background: Clinical Spectrum, Pathogenesis, and Diagnostic Challenges.

Zhou N, Zhi Y

Diagnostics (Basel, Switzerland) 2025; (15(24)) doi:10.3390/diagnostics15243195.

Multidimensional Assessment of Patient-Reported-Outcomes in a Multicenter Cohort of Inborn Errors of Immunity.

Yorgun Altunbas M, Sefer AP, Bilgic-Eltan S, et al.

Journal of clinical immunology 2026; (46(1)):18 doi:10.1007/s10875-025-01972-1.

Pulmonary surveillance in inborn errors of immunity: current challenges and emerging approaches.

Hoptioncann E, Eddy RL, Biggs CM, Rayment JH

Frontiers in immunology 2026; (17()):1797843 doi:10.3389/fimmu.2026.1797843.

Current Vaccination Principles and Practices in Adult Cancer Patients.

Elik DB, Kıvrak EE, Yıldırım HÇ, et al.

Journal of clinical practice and research 2026; (48(3)):226-234 doi:10.14744/cpr.2026.02998.

Shared Decision-Making and Health-Related Quality of Life in the Diagnosis and Management of Patients With Inborn Errors of Immunity.

Lawrence MG, Kim VHD, Orange JS, Scherzer R

The journal of allergy and clinical immunology. In practice 2026; doi:10.1016/j.jaip.2026.07.010.

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)).