Cargando…
Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review
Background: Variants in the phospholipase C gamma 2 (PLCG2) gene can cause PLCG2-associated antibody deficiency and immune dysregulation (PLAID)/autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) syndrome. Linking the clinical phenotype with the genotype is r...
Autores principales: | , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9368933/ https://www.ncbi.nlm.nih.gov/pubmed/35955991 http://dx.doi.org/10.3390/jcm11154369 |
_version_ | 1784766297918144512 |
---|---|
author | Welzel, Tatjana Oefelein, Lea Holzer, Ursula Müller, Amelie Menden, Benita Haack, Tobias B. Groβ, Miriam Kuemmerle-Deschner, Jasmin B. |
author_facet | Welzel, Tatjana Oefelein, Lea Holzer, Ursula Müller, Amelie Menden, Benita Haack, Tobias B. Groβ, Miriam Kuemmerle-Deschner, Jasmin B. |
author_sort | Welzel, Tatjana |
collection | PubMed |
description | Background: Variants in the phospholipase C gamma 2 (PLCG2) gene can cause PLCG2-associated antibody deficiency and immune dysregulation (PLAID)/autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) syndrome. Linking the clinical phenotype with the genotype is relevant in making the final diagnosis. Methods: This is a single center case series of five related patients (4–44 years), with a history of autoinflammation and immune dysregulation. Clinical and laboratory characteristics were recorded and a literature review of APLAID/PLAID was performed. Results: All patients had recurrent fevers, conjunctivitis, lymphadenopathy, headaches, myalgia, abdominal pain, cold-induced urticaria and recurrent airway infections. Hearing loss was detected in two patients. Inflammatory parameters were slightly elevated during flares. Unswitched B-cells were decreased. Naïve IgD+CD27− B-cells and unswitched IgD+CD27+ B-cells were decreased; switched IgD-CD27+ B-cells were slightly increased. T-cell function was normal. Genetic testing revealed a heterozygous missense variant (c.77C>T, p.Thr26Met) in the PLCG2 gene in all patients. Genotype and phenotype characteristics were similar to previously published PLAID (cold-induced urticaria) and APLAID (eye inflammation, musculoskeletal complaints, no circulating antibodies) patients. Furthermore, they displayed characteristics for both PLAID and APLAID (recurrent infections, abdominal pain/diarrhea) with normal T-cell function. Conclusion: The heterozygous missense PLCG2 gene variant (c.77C>T, p.Thr26Met) might cause phenotypical overlap of PLAID and APLAID patterns. |
format | Online Article Text |
id | pubmed-9368933 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-93689332022-08-12 Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review Welzel, Tatjana Oefelein, Lea Holzer, Ursula Müller, Amelie Menden, Benita Haack, Tobias B. Groβ, Miriam Kuemmerle-Deschner, Jasmin B. J Clin Med Brief Report Background: Variants in the phospholipase C gamma 2 (PLCG2) gene can cause PLCG2-associated antibody deficiency and immune dysregulation (PLAID)/autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) syndrome. Linking the clinical phenotype with the genotype is relevant in making the final diagnosis. Methods: This is a single center case series of five related patients (4–44 years), with a history of autoinflammation and immune dysregulation. Clinical and laboratory characteristics were recorded and a literature review of APLAID/PLAID was performed. Results: All patients had recurrent fevers, conjunctivitis, lymphadenopathy, headaches, myalgia, abdominal pain, cold-induced urticaria and recurrent airway infections. Hearing loss was detected in two patients. Inflammatory parameters were slightly elevated during flares. Unswitched B-cells were decreased. Naïve IgD+CD27− B-cells and unswitched IgD+CD27+ B-cells were decreased; switched IgD-CD27+ B-cells were slightly increased. T-cell function was normal. Genetic testing revealed a heterozygous missense variant (c.77C>T, p.Thr26Met) in the PLCG2 gene in all patients. Genotype and phenotype characteristics were similar to previously published PLAID (cold-induced urticaria) and APLAID (eye inflammation, musculoskeletal complaints, no circulating antibodies) patients. Furthermore, they displayed characteristics for both PLAID and APLAID (recurrent infections, abdominal pain/diarrhea) with normal T-cell function. Conclusion: The heterozygous missense PLCG2 gene variant (c.77C>T, p.Thr26Met) might cause phenotypical overlap of PLAID and APLAID patterns. MDPI 2022-07-27 /pmc/articles/PMC9368933/ /pubmed/35955991 http://dx.doi.org/10.3390/jcm11154369 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Brief Report Welzel, Tatjana Oefelein, Lea Holzer, Ursula Müller, Amelie Menden, Benita Haack, Tobias B. Groβ, Miriam Kuemmerle-Deschner, Jasmin B. Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review |
title | Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review |
title_full | Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review |
title_fullStr | Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review |
title_full_unstemmed | Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review |
title_short | Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review |
title_sort | variant in the plcg2 gene may cause a phenotypic overlap of aplaid/plaid: case series and literature review |
topic | Brief Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9368933/ https://www.ncbi.nlm.nih.gov/pubmed/35955991 http://dx.doi.org/10.3390/jcm11154369 |
work_keys_str_mv | AT welzeltatjana variantintheplcg2genemaycauseaphenotypicoverlapofaplaidplaidcaseseriesandliteraturereview AT oefeleinlea variantintheplcg2genemaycauseaphenotypicoverlapofaplaidplaidcaseseriesandliteraturereview AT holzerursula variantintheplcg2genemaycauseaphenotypicoverlapofaplaidplaidcaseseriesandliteraturereview AT mulleramelie variantintheplcg2genemaycauseaphenotypicoverlapofaplaidplaidcaseseriesandliteraturereview AT mendenbenita variantintheplcg2genemaycauseaphenotypicoverlapofaplaidplaidcaseseriesandliteraturereview AT haacktobiasb variantintheplcg2genemaycauseaphenotypicoverlapofaplaidplaidcaseseriesandliteraturereview AT grobmiriam variantintheplcg2genemaycauseaphenotypicoverlapofaplaidplaidcaseseriesandliteraturereview AT kuemmerledeschnerjasminb variantintheplcg2genemaycauseaphenotypicoverlapofaplaidplaidcaseseriesandliteraturereview |