Description of a Novel Pathogenic Variant in the ARPC1B and a Severe Allergy in Two Infants
Iran J Allergy Asthma Immunol. 2024 Feb 11;23(1):122-126. doi: 10.18502/ijaai.v23i1.14960.ABSTRACTActinrelated 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 p...
Source: Iranian Journal of Allergy, Asthma and Immunology - March 15, 2024 Category: Allergy & Immunology Authors: Oscar Zaveleta Mart ínez Ana Eunice Fregoso-Zu ñiga Cielo Razo Requena Sara Espinosa Padilla Lzbeth Blancas Galicia Source Type: research
Description of a Novel Pathogenic Variant in the ARPC1B and a Severe Allergy in Two Infants
Iran J Allergy Asthma Immunol. 2024 Feb 11;23(1):122-126. doi: 10.18502/ijaai.v23i1.14960.ABSTRACTActinrelated 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 p...
Source: Iranian Journal of Allergy, Asthma and Immunology - March 15, 2024 Category: Allergy & Immunology Authors: Oscar Zaveleta Mart ínez Ana Eunice Fregoso-Zu ñiga Cielo Razo Requena Sara Espinosa Padilla Lzbeth Blancas Galicia Source Type: research
Description of a Novel Pathogenic Variant in the ARPC1B and a Severe Allergy in Two Infants
Iran J Allergy Asthma Immunol. 2024 Feb 11;23(1):122-126. doi: 10.18502/ijaai.v23i1.14960.ABSTRACTActinrelated 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 p...
Source: Iranian Journal of Allergy, Asthma and Immunology - March 15, 2024 Category: Allergy & Immunology Authors: Oscar Zaveleta Mart ínez Ana Eunice Fregoso-Zu ñiga Cielo Razo Requena Sara Espinosa Padilla Lzbeth Blancas Galicia Source Type: research
Description of a Novel Pathogenic Variant in the ARPC1B and a Severe Allergy in Two Infants
Iran J Allergy Asthma Immunol. 2024 Feb 11;23(1):122-126. doi: 10.18502/ijaai.v23i1.14960.ABSTRACTActinrelated 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 p...
Source: Iranian Journal of Allergy, Asthma and Immunology - March 15, 2024 Category: Allergy & Immunology Authors: Oscar Zaveleta Mart ínez Ana Eunice Fregoso-Zu ñiga Cielo Razo Requena Sara Espinosa Padilla Lzbeth Blancas Galicia Source Type: research
Description of a Novel Pathogenic Variant in the ARPC1B and a Severe Allergy in Two Infants
Iran J Allergy Asthma Immunol. 2024 Feb 11;23(1):122-126. doi: 10.18502/ijaai.v23i1.14960.ABSTRACTActinrelated 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 p...
Source: Iranian Journal of Allergy, Asthma and Immunology - March 15, 2024 Category: Allergy & Immunology Authors: Oscar Zaveleta Mart ínez Ana Eunice Fregoso-Zu ñiga Cielo Razo Requena Sara Espinosa Padilla Lzbeth Blancas Galicia Source Type: research
Description of a Novel Pathogenic Variant in the ARPC1B and a Severe Allergy in Two Infants
Iran J Allergy Asthma Immunol. 2024 Feb 11;23(1):122-126. doi: 10.18502/ijaai.v23i1.14960.ABSTRACTActinrelated 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 p...
Source: Iranian Journal of Allergy, Asthma and Immunology - March 15, 2024 Category: Allergy & Immunology Authors: Oscar Zaveleta Mart ínez Ana Eunice Fregoso-Zu ñiga Cielo Razo Requena Sara Espinosa Padilla Lzbeth Blancas Galicia Source Type: research
Description of a Novel Pathogenic Variant in the ARPC1B and a Severe Allergy in Two Infants
Iran J Allergy Asthma Immunol. 2024 Feb 11;23(1):122-126. doi: 10.18502/ijaai.v23i1.14960.ABSTRACTActinrelated 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 p...
Source: Iranian Journal of Allergy, Asthma and Immunology - March 15, 2024 Category: Allergy & Immunology Authors: Oscar Zaveleta Mart ínez Ana Eunice Fregoso-Zu ñiga Cielo Razo Requena Sara Espinosa Padilla Lzbeth Blancas Galicia Source Type: research
Description of a Novel Pathogenic Variant in the ARPC1B and a Severe Allergy in Two Infants
Iran J Allergy Asthma Immunol. 2024 Feb 11;23(1):122-126. doi: 10.18502/ijaai.v23i1.14960.ABSTRACTActinrelated 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 p...
Source: Iranian Journal of Allergy, Asthma and Immunology - March 15, 2024 Category: Allergy & Immunology Authors: Oscar Zaveleta Mart ínez Ana Eunice Fregoso-Zu ñiga Cielo Razo Requena Sara Espinosa Padilla Lzbeth Blancas Galicia Source Type: research
Description of a Novel Pathogenic Variant in the ARPC1B and a Severe Allergy in Two Infants
Iran J Allergy Asthma Immunol. 2024 Feb 11;23(1):122-126. doi: 10.18502/ijaai.v23i1.14960.ABSTRACTActinrelated 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 p...
Source: Iranian Journal of Allergy, Asthma and Immunology - March 15, 2024 Category: Allergy & Immunology Authors: Oscar Zaveleta Mart ínez Ana Eunice Fregoso-Zu ñiga Cielo Razo Requena Sara Espinosa Padilla Lzbeth Blancas Galicia Source Type: research
Description of a Novel Pathogenic Variant in the ARPC1B and a Severe Allergy in Two Infants
Iran J Allergy Asthma Immunol. 2024 Feb 11;23(1):122-126. doi: 10.18502/ijaai.v23i1.14960.ABSTRACTActinrelated 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 p...
Source: Iranian Journal of Allergy, Asthma and Immunology - March 15, 2024 Category: Allergy & Immunology Authors: Oscar Zaveleta Mart ínez Ana Eunice Fregoso-Zu ñiga Cielo Razo Requena Sara Espinosa Padilla Lzbeth Blancas Galicia Source Type: research
Description of a Novel Pathogenic Variant in the ARPC1B and a Severe Allergy in Two Infants
Iran J Allergy Asthma Immunol. 2024 Feb 11;23(1):122-126. doi: 10.18502/ijaai.v23i1.14960.ABSTRACTActinrelated 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 p...
Source: Iranian Journal of Allergy, Asthma and Immunology - March 15, 2024 Category: Allergy & Immunology Authors: Oscar Zaveleta Mart ínez Ana Eunice Fregoso-Zu ñiga Cielo Razo Requena Sara Espinosa Padilla Lzbeth Blancas Galicia Source Type: research
Description of a Novel Pathogenic Variant in the ARPC1B and a Severe Allergy in Two Infants
Iran J Allergy Asthma Immunol. 2024 Feb 11;23(1):122-126. doi: 10.18502/ijaai.v23i1.14960.ABSTRACTActinrelated 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 p...
Source: Iranian Journal of Allergy, Asthma and Immunology - March 15, 2024 Category: Allergy & Immunology Authors: Oscar Zaveleta Mart ínez Ana Eunice Fregoso-Zu ñiga Cielo Razo Requena Sara Espinosa Padilla Lzbeth Blancas Galicia Source Type: research
Description of a Novel Pathogenic Variant in the ARPC1B and a Severe Allergy in Two Infants
Iran J Allergy Asthma Immunol. 2024 Feb 11;23(1):122-126. doi: 10.18502/ijaai.v23i1.14960.ABSTRACTActinrelated 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 p...
Source: Iranian Journal of Allergy, Asthma and Immunology - March 15, 2024 Category: Allergy & Immunology Authors: Oscar Zaveleta Mart ínez Ana Eunice Fregoso-Zu ñiga Cielo Razo Requena Sara Espinosa Padilla Lzbeth Blancas Galicia Source Type: research
Description of a Novel Pathogenic Variant in the ARPC1B and a Severe Allergy in Two Infants
Iran J Allergy Asthma Immunol. 2024 Feb 11;23(1):122-126. doi: 10.18502/ijaai.v23i1.14960.ABSTRACTActinrelated 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 p...
Source: Iranian Journal of Allergy, Asthma and Immunology - March 15, 2024 Category: Allergy & Immunology Authors: Oscar Zaveleta Mart ínez Ana Eunice Fregoso-Zu ñiga Cielo Razo Requena Sara Espinosa Padilla Lzbeth Blancas Galicia Source Type: research
Development and Psychometric Validation of a Patient-Reported Outcome Measure to Assess the Signs and Symptoms of Chronic Hand Eczema: The Hand Eczema Symptom Diary (HESD)
ConclusionThe HESD is the first CHE-specific, patient-reported outcome measure of CHE signs/symptoms developed and validated in line with regulatory guidance. This article provides evidence of strong content validity and psychometric validity and shows improvements of ≥ 4 points on 7-day average HESD scores represent clinically meaningful, important changes.Trial RegistrationNCT03683719, NCT04871711. (Source: Dermatology and Therapy)
Source: Dermatology and Therapy - March 15, 2024 Category: Dermatology Source Type: research
