Pub Date : 2026-01-01DOI: 10.1016/j.jaip.2025.10.034
Andreas Reiter MD , Julien Rossignol MD , Michael W. Deininger MD, PhD , Johannes Luebke MD , Olivier Hermine MD , Cem Akin MD , Jason Gotlib MD , Deepti H. Radia MD
Systemic mastocytosis (SM) is a rare hematological neoplasm driven by the KIT D816V mutation in up to 95% of cases. SM is classified into nonadvanced SM—comprising indolent SM (ISM), bone marrow (BM) mastocytosis, and smoldering SM—and advanced SM (AdvSM), with the subtypes aggressive SM, SM with an associated hematological neoplasm (SM-AHN according to the World Health Organization), and mast cell (MC) leukemia. Clinical presentations are heterogeneous, and careful evaluation of clinical and laboratory parameters is required to plan patient management. Here we discuss the diagnosis and treatment of 2 patients with KIT D816V positive SM, 1 with AdvSM and 1 with ISM, both of whom received KIT-targeted therapies. In addition to clinical presentations caused by a combination of MC mediator symptoms and consequences from MC infiltration of different organ systems, the diagnostic workup included qualitative and quantitative assessment of variably affected key parameters from (1) peripheral blood (eg, blood counts, serum tryptase, and other serum markers; variant allele frequency [VAF] of KIT D816V; and additional somatic mutations); (2) BM MC infiltration, KIT D816V VAF, presence/absence of an AHN/associated myeloid neoplasm, and cytogenetic analysis; and (3) organ infiltration/dysfunction (primarily affecting skin, bone/BM, and visceral organs).
{"title":"KIT-Targeting Drugs in the Management of Nonadvanced and Advanced Systemic Mastocytosis","authors":"Andreas Reiter MD , Julien Rossignol MD , Michael W. Deininger MD, PhD , Johannes Luebke MD , Olivier Hermine MD , Cem Akin MD , Jason Gotlib MD , Deepti H. Radia MD","doi":"10.1016/j.jaip.2025.10.034","DOIUrl":"10.1016/j.jaip.2025.10.034","url":null,"abstract":"<div><div>Systemic mastocytosis (SM) is a rare hematological neoplasm driven by the <em>KIT</em> D816V mutation in up to 95% of cases. SM is classified into nonadvanced SM—comprising indolent SM (ISM), bone marrow (BM) mastocytosis, and smoldering SM—and advanced SM (AdvSM), with the subtypes aggressive SM, SM with an associated hematological neoplasm (SM-AHN according to the World Health Organization), and mast cell (MC) leukemia. Clinical presentations are heterogeneous, and careful evaluation of clinical and laboratory parameters is required to plan patient management. Here we discuss the diagnosis and treatment of 2 patients with <em>KIT</em> D816V positive SM, 1 with AdvSM and 1 with ISM, both of whom received KIT-targeted therapies. In addition to clinical presentations caused by a combination of MC mediator symptoms and consequences from MC infiltration of different organ systems, the diagnostic workup included qualitative and quantitative assessment of variably affected key parameters from (1) peripheral blood (eg, blood counts, serum tryptase, and other serum markers; variant allele frequency [VAF] of <em>KIT</em> D816V; and additional somatic mutations); (2) BM MC infiltration, <em>KIT</em> D816V VAF, presence/absence of an AHN/associated myeloid neoplasm, and cytogenetic analysis; and (3) organ infiltration/dysfunction (primarily affecting skin, bone/BM, and visceral organs).</div></div>","PeriodicalId":51323,"journal":{"name":"Journal of Allergy and Clinical Immunology-In Practice","volume":"14 1","pages":"Pages 44-52"},"PeriodicalIF":6.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145446540","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-01DOI: 10.1016/j.jaip.2025.11.006
Princess U. Ogbogu MD , Donna Carstens MD , Fan Mu ScD , Erin E. Cook ScD , Yen Chung PharmD , Mu Cheng MPH , Elizabeth Judson MPH , Jingyi Chen MSc , Travis Wang MSc , Zhuo Chen MPH , Paneez Khoury MD
Background
There are limited real-world analyses of patients with hypereosinophilic syndrome (HES) in the United States.
Objective
To describe and compare treatment patterns and disease burden between patients with diagnosed or predicted HES and those without HES with elevated blood eosinophil count (BEC).
Methods
Open claims data were used to identify patients with 2 or more BECs greater than 1000 cells/μL, who were classified into 3 cohorts: patients with an HES diagnosis code (group 1), patients identified as having HES by a claims-based prediction model (group 2), and patients without HES with elevated BEC (group 3). HES-related treatments, disease manifestations, HES flares, and all-cause health care resource utilization were evaluated during the 12 months following a randomly selected elevated BEC. Group 3 was compared with groups 2 and 1, separately, using Wilcoxon rank-sum test for continuous variables and χ2 test for categorical variables.
Results
The study included 212 patients in group 1, 8089 in group 2, and 132,945 in group 3. Approximately 62.3% of group 1 patients received 1 or more HES-related treatment, with corticosteroids being the most common (59.0%). The most common disease manifestations were those related to the upper airway/pulmonary (61.8%), constitutional (46.2%), dermatologic (35.8%), and gastrointestinal systems (34.4%). Among patients in group 1, 22.2%, 97.2%, and 25.9% had 1 or more inpatient, outpatient, and emergency department visit, respectively. Compared with group 3, groups 1 and 2 had more corticosteroid use and health care resource utilization (all P < .05).
Conclusions
Patients with HES had a substantial clinical and health care resource utilization burden versus those without HES with elevated BEC.
{"title":"The Clinical Burden of Hypereosinophilic Syndrome in a Large United States Cohort","authors":"Princess U. Ogbogu MD , Donna Carstens MD , Fan Mu ScD , Erin E. Cook ScD , Yen Chung PharmD , Mu Cheng MPH , Elizabeth Judson MPH , Jingyi Chen MSc , Travis Wang MSc , Zhuo Chen MPH , Paneez Khoury MD","doi":"10.1016/j.jaip.2025.11.006","DOIUrl":"10.1016/j.jaip.2025.11.006","url":null,"abstract":"<div><h3>Background</h3><div>There are limited real-world analyses of patients with hypereosinophilic syndrome (HES) in the United States.</div></div><div><h3>Objective</h3><div>To describe and compare treatment patterns and disease burden between patients with diagnosed or predicted HES and those without HES with elevated blood eosinophil count (BEC).</div></div><div><h3>Methods</h3><div>Open claims data were used to identify patients with 2 or more BECs greater than 1000 cells/μL, who were classified into 3 cohorts: patients with an HES diagnosis code (group 1), patients identified as having HES by a claims-based prediction model (group 2), and patients without HES with elevated BEC (group 3). HES-related treatments, disease manifestations, HES flares, and all-cause health care resource utilization were evaluated during the 12 months following a randomly selected elevated BEC. Group 3 was compared with groups 2 and 1, separately, using Wilcoxon rank-sum test for continuous variables and χ<sup>2</sup> test for categorical variables.</div></div><div><h3>Results</h3><div>The study included 212 patients in group 1, 8089 in group 2, and 132,945 in group 3. Approximately 62.3% of group 1 patients received 1 or more HES-related treatment, with corticosteroids being the most common (59.0%). The most common disease manifestations were those related to the upper airway/pulmonary (61.8%), constitutional (46.2%), dermatologic (35.8%), and gastrointestinal systems (34.4%). Among patients in group 1, 22.2%, 97.2%, and 25.9% had 1 or more inpatient, outpatient, and emergency department visit, respectively. Compared with group 3, groups 1 and 2 had more corticosteroid use and health care resource utilization (all <em>P</em> < .05).</div></div><div><h3>Conclusions</h3><div>Patients with HES had a substantial clinical and health care resource utilization burden versus those without HES with elevated BEC.</div></div>","PeriodicalId":51323,"journal":{"name":"Journal of Allergy and Clinical Immunology-In Practice","volume":"14 1","pages":"Pages 205-214"},"PeriodicalIF":6.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145534859","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-01DOI: 10.1016/j.jaip.2025.10.046
Cem Akin MD, PhD , Theo Gülen MD , Mariana C. Castells MD, PhD , Hanneke Oude Elberink MD, PhD , Peter Valent MD
Over the past 15 years, the number of patients referred to specialized centers because of a suspected or known mast cell activation disorder (MCAD) has increased substantially in various countries. MCAD is an umbrella term encompassing a heterogeneous group of conditions in which inappropriate or excessive mast cell activation plays a central role. These include IgE-mediated allergic diseases, clonal mast cell disorders such as systemic mastocytosis, and mast cell activation syndrome (MCAS), a distinct clinical entity characterized by systemic symptoms, objective biochemical evidence of mast cell mediator release, and a response to targeted therapy. The increased referral rate is due to an increased awareness of MCAD, a high prevalence of IgE-dependent allergies where mast cell activation is a pathognomonic feature, and the growing access to internet and social media with unverified medical information resources, which may lead to incorrect self- or health care provider–suggested diagnoses. An additional challenge is that solid criteria for MCAS and other MCADs have been proposed but are not known, not applied, or not accepted by all providers. However, to confirm mast cell involvement with certainty in such disorders, which is an ultimate diagnostic prerequisite, stringent diagnostic criteria of MCAS or other MCADs have to be fulfilled. In this article, we provide an overview of available diagnostic standards, assays, and criteria used to diagnose MCAS and other forms of MCADs. In addition, we provide a state-of-the-art overview of therapeutic options. Finally, we review differential diagnoses that must be considered before MCAS is diagnosed.
{"title":"Diagnosis and Management of Patients With Mast Cell Activation Syndromes: Status 2026","authors":"Cem Akin MD, PhD , Theo Gülen MD , Mariana C. Castells MD, PhD , Hanneke Oude Elberink MD, PhD , Peter Valent MD","doi":"10.1016/j.jaip.2025.10.046","DOIUrl":"10.1016/j.jaip.2025.10.046","url":null,"abstract":"<div><div>Over the past 15 years, the number of patients referred to specialized centers because of a suspected or known mast cell activation disorder (MCAD) has increased substantially in various countries. MCAD is an umbrella term encompassing a heterogeneous group of conditions in which inappropriate or excessive mast cell activation plays a central role. These include IgE-mediated allergic diseases, clonal mast cell disorders such as systemic mastocytosis, and mast cell activation syndrome (MCAS), a distinct clinical entity characterized by systemic symptoms, objective biochemical evidence of mast cell mediator release, and a response to targeted therapy. The increased referral rate is due to an increased awareness of MCAD, a high prevalence of IgE-dependent allergies where mast cell activation is a pathognomonic feature, and the growing access to internet and social media with unverified medical information resources, which may lead to incorrect self- or health care provider–suggested diagnoses. An additional challenge is that solid criteria for MCAS and other MCADs have been proposed but are not known, not applied, or not accepted by all providers. However, to confirm mast cell involvement with certainty in such disorders, which is an ultimate diagnostic prerequisite, stringent diagnostic criteria of MCAS or other MCADs have to be fulfilled. In this article, we provide an overview of available diagnostic standards, assays, and criteria used to diagnose MCAS and other forms of MCADs. In addition, we provide a state-of-the-art overview of therapeutic options. Finally, we review differential diagnoses that must be considered before MCAS is diagnosed.</div></div>","PeriodicalId":51323,"journal":{"name":"Journal of Allergy and Clinical Immunology-In Practice","volume":"14 1","pages":"Pages 19-28"},"PeriodicalIF":6.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145598087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-01DOI: 10.1016/j.jaip.2025.10.002
Melba Muñoz MD, PhD , Pascale Salameh PhD , Sabine Altrichter MD , Leslie Durner MD , Clara Geppert-Steidl MD , Petra Staubach MD , Jonathan A. Bernstein MD , Karsten Weller MD
Background
Symptomatic dermographism (SD) is the most common subtype of chronic inducible urticaria. It is characterized by the recurrent appearance of itch and subsequent strip-shaped wheals induced by applying shear forces on the skin, such as stroking or rubbing. The impossibility to avoid symptom’s occurrence in most cases leads to a marked quality-of-life (QoL) impairment. As of yet, a validated and disease-specific instrument to adequately assess QoL in patients with SD is not available.
Objective
To validate the first disease-specific patient-reported outcome measure to assess health-related QoL impairment in patients with SD, the Symptomatic Dermographism Quality-of-Life Questionnaire (SD-QoL).
Methods
A 13-item QoL questionnaire had been previously generated and published. Now, the SD-QoL was analyzed regarding its domain structure and tested for its reliability and validity by evaluating its internal consistency, test-retest reliability, and convergent and known-groups validity.
Results
In total, 106 patients with SD participated in the SD-QoL validation study. The results suggest a 3-domain structure (“symptoms,” “functioning,” and “emotions”/“appearance”) with an excellent internal consistency of the domains as well as the overall instrument. Furthermore, the analyses indicated high levels of convergent validity and known-groups validity as well as an excellent test-retest reliability.
Conclusions
The SD-QoL is the first validated disease-specific QoL instrument for SD that allows assessing QoL of patients with SD in clinical trials as well as in routine patient care.
{"title":"Validation of the Symptomatic Dermographism Quality of Life Questionnaire (SD-QoL)","authors":"Melba Muñoz MD, PhD , Pascale Salameh PhD , Sabine Altrichter MD , Leslie Durner MD , Clara Geppert-Steidl MD , Petra Staubach MD , Jonathan A. Bernstein MD , Karsten Weller MD","doi":"10.1016/j.jaip.2025.10.002","DOIUrl":"10.1016/j.jaip.2025.10.002","url":null,"abstract":"<div><h3>Background</h3><div>Symptomatic dermographism (SD) is the most common subtype of chronic inducible urticaria. It is characterized by the recurrent appearance of itch and subsequent strip-shaped wheals induced by applying shear forces on the skin, such as stroking or rubbing. The impossibility to avoid symptom’s occurrence in most cases leads to a marked quality-of-life (QoL) impairment. As of yet, a validated and disease-specific instrument to adequately assess QoL in patients with SD is not available.</div></div><div><h3>Objective</h3><div>To validate the first disease-specific patient-reported outcome measure to assess health-related QoL impairment in patients with SD, the Symptomatic Dermographism Quality-of-Life Questionnaire (SD-QoL).</div></div><div><h3>Methods</h3><div>A 13-item QoL questionnaire had been previously generated and published. Now, the SD-QoL was analyzed regarding its domain structure and tested for its reliability and validity by evaluating its internal consistency, test-retest reliability, and convergent and known-groups validity.</div></div><div><h3>Results</h3><div>In total, 106 patients with SD participated in the SD-QoL validation study. The results suggest a 3-domain structure (“symptoms,” “functioning,” and “emotions”/“appearance”) with an excellent internal consistency of the domains as well as the overall instrument. Furthermore, the analyses indicated high levels of convergent validity and known-groups validity as well as an excellent test-retest reliability.</div></div><div><h3>Conclusions</h3><div>The SD-QoL is the first validated disease-specific QoL instrument for SD that allows assessing QoL of patients with SD in clinical trials as well as in routine patient care.</div></div>","PeriodicalId":51323,"journal":{"name":"Journal of Allergy and Clinical Immunology-In Practice","volume":"14 1","pages":"Pages 274-282.e2"},"PeriodicalIF":6.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145281705","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-01DOI: 10.1016/j.jaip.2025.10.029
Jacqueline Kussini MD , Stefan Mühlenbein MD , Christian Möbs PhD , Wolfgang Pfützner MD
{"title":"Successful tolerance induction by allergen immunotherapy in a patient with bee venom anaphylaxis under treatment with a Janus kinase 1/2 inhibitor","authors":"Jacqueline Kussini MD , Stefan Mühlenbein MD , Christian Möbs PhD , Wolfgang Pfützner MD","doi":"10.1016/j.jaip.2025.10.029","DOIUrl":"10.1016/j.jaip.2025.10.029","url":null,"abstract":"","PeriodicalId":51323,"journal":{"name":"Journal of Allergy and Clinical Immunology-In Practice","volume":"14 1","pages":"Pages 306-308"},"PeriodicalIF":6.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145427042","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-01DOI: 10.1016/j.jaip.2025.10.050
Andrew Supron MD , Kathleen M. Buchheit MD
{"title":"Endoscopic Sinus Surgery Leads to Greater Improvements in Quality of Life Compared With Long-Term Clarithromycin Treatment for Patients With Chronic Rhinosinusitis","authors":"Andrew Supron MD , Kathleen M. Buchheit MD","doi":"10.1016/j.jaip.2025.10.050","DOIUrl":"10.1016/j.jaip.2025.10.050","url":null,"abstract":"","PeriodicalId":51323,"journal":{"name":"Journal of Allergy and Clinical Immunology-In Practice","volume":"14 1","pages":"Pages 316-317"},"PeriodicalIF":6.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145903928","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-01DOI: 10.1016/j.jaip.2025.10.042
Peter Valent MD , Melody Carter MD
{"title":"Diagnosis, Prognostication, and Management of Patients With Mastocytosis: Status 2026","authors":"Peter Valent MD , Melody Carter MD","doi":"10.1016/j.jaip.2025.10.042","DOIUrl":"10.1016/j.jaip.2025.10.042","url":null,"abstract":"","PeriodicalId":51323,"journal":{"name":"Journal of Allergy and Clinical Immunology-In Practice","volume":"14 1","pages":"Pages 53-55"},"PeriodicalIF":6.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145904014","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-01DOI: 10.1016/S2213-2198(25)01169-9
{"title":"Continuing Medical Education Calendar","authors":"","doi":"10.1016/S2213-2198(25)01169-9","DOIUrl":"10.1016/S2213-2198(25)01169-9","url":null,"abstract":"","PeriodicalId":51323,"journal":{"name":"Journal of Allergy and Clinical Immunology-In Practice","volume":"14 1","pages":"Pages A25-A26"},"PeriodicalIF":6.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145903906","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-01DOI: 10.1016/j.jaip.2025.12.018
{"title":"Management of Mastocytosis and Mast Cell Activation in Children","authors":"","doi":"10.1016/j.jaip.2025.12.018","DOIUrl":"10.1016/j.jaip.2025.12.018","url":null,"abstract":"","PeriodicalId":51323,"journal":{"name":"Journal of Allergy and Clinical Immunology-In Practice","volume":"14 1","pages":"Page 43"},"PeriodicalIF":6.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145903909","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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