Description of a Novel Pathogenic Variant in the ARPC1B and a Severe Allergy in Two Infants
-
Oscar Zaveleta Martínez
,
Ana Eunice Fregoso-Zuñiga
,
Cielo Razo Requena
,
Sara Espinosa Padilla
,
Lzbeth Blancas Galicia
Abstract
Actinrelated protein 2/3 complex subunit 1B (ARPC1B) deficiency is an inborn error of immunity (IEI) characterized by a combination of immunodeficiency and immune dysregulation and classified as an IEI with allergic manifestations. Here, we describe two patients with pathogenic variants in the ARPC1B gene. The first patient presented with eczema and bronchospasm at six months of age. The second patient presented with eczema and milk protein allergy at five months of age. The c.899_944 (p.Glu300Glyfs*7) pathogenic variant was previously described, whereas the c.863del (p.Pro288Leufs*9) variant was novel. ARPC1B deficiency should be considered because of the severe allergic manifestations at an early age.
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7. Kopitar AN, Markelj G, Orazem M, Blazina S, Avcin T, Ihan A, et al. Flow Cytometric Determination of Actin Polymerization in Peripheral Blood Leukocytes Effectively Discriminate Patients With Homozygous Mutation in ARPC1B From Asymptomatic Carriers and Normal Controls. Front Immunol. 2019;10:1632.
2. Kahr WH, Pluthero FG, Elkadri A, Warner N, Drobac M, Chen CH, et al. Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease. Nat Commun. 2017;8:14816.
3. Randzavola LO, Strege K, Juzans M, Asano Y, Stinchcombe JC, Gawden-Bone CM, et al. Loss of ARPC1B impairs cytotoxic T lymphocyte maintenance and cytolytic activity. J Clin Invest. 2019;129(12):5600-14.
4. Kuijpers TW, Tool ATJ, van der Bijl I, de Boer M, van Houdt M, de Cuyper IM, et al. Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency. J Allergy Clin Immunol. 2017;140(1):273-7 e10.
5. Vasquez-Echeverri E, Yamazaki-Nakashimada MA, Venegas Montoya E, Scheffler Mendoza SC, Castano-Jaramillo LM, Medina-Torres EA, et al. Is Your Kid Actin Out? A Series of Six Patients With Inherited Actin-Related Protein 2/3 Complex Subunit 1B Deficiency and Review of the Literature. J Allergy Clin Immunol Pract. 2023;11(4):1261-80 e8.
6. Giardino S, Volpi S, Lucioni F, Caorsi R, Schneiderman J, Lang A, et al. Hematopoietic Stem Cell Transplantation in ARPC1B Deficiency. J Clin Immunol. 2022;42(7):1535-44.
7. Kopitar AN, Markelj G, Orazem M, Blazina S, Avcin T, Ihan A, et al. Flow Cytometric Determination of Actin Polymerization in Peripheral Blood Leukocytes Effectively Discriminate Patients With Homozygous Mutation in ARPC1B From Asymptomatic Carriers and Normal Controls. Front Immunol. 2019;10:1632.
| Files | ||
| Issue | Vol 23 No 1 (2024) | |
| Section | Case Report(s) | |
| DOI | https://doi.org/10.18502/ijaai.v23i1.14960 | |
| Keywords | ||
| ARPC1B protein, human Bronchial spasm Eczema Hypersensitivity Primary immunodeficiency diseases | ||
| Rights and permissions | |
|
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
Zaveleta Martínez O, Fregoso-Zuñiga AE, Razo Requena C, Espinosa Padilla S, Blancas Galicia L. Description of a Novel Pathogenic Variant in the ARPC1B and a Severe Allergy in Two Infants. Iran J Allergy Asthma Immunol. 2024;23(1):122-126.
