Author:
Jennifer Roper, MD1, Sebastian Ochoa, MD2, Anahita
Agharahimi, MSN, CRNP2, Justina Pfister, RN2, Magdalena
Walkiewicz, PhD2, Amanda Urban, DNP, CRNP3, Rajarshi
Ghosh, PhD2, Michail Lionakis, MD, ScD2, Lisa Kohn, MD, PhD4, Kenneth Olivier, MD, MPH2, Alexandra Freeman, MD2
Author address:
1 MedStar Georgetown University Hospital, 2 National Institutes of Health, 3 Clinical Research Directorate, Frederick National Laboratory for Cancer Research, 4 University of California, Los Angeles
Full conference title:
American Academy of Allergy, Asthma and Immunology Annual Meeting 2023
Date: 24 February 2023
Abstract:
RATIONALE: Pathogenic variants in IL6ST cause a Hyper-IgE syndrome (HIES) that presents similarly to STAT3 dominant negative (DN) HIES. Severe structural lung disease with bronchiectasis and pneumatoceles is a major driver of morbidity in this disease. We describe clinical characteristics of four patients with heterozygous IL6ST variants with presentations consistent with allergic bronchopulmonary aspergillosis (ABPA). METHODS: Four patients with immune and genetic evaluation for recurrent lung infections were found to have truncating variants resulting in dominant negative IL6ST. Clinical data including historical, laboratory, and radiographic features were collected and described. RESULTS: All four patients (two female, mean age 29.5 years) presented with recurrent pneumonia, asthma, and elevated IgE (mean 5191 IU/ml). 3/ 4 had history of low impact fractures, low bone density, and dental abnormalities. Computed tomography (CT) imaging demonstrated central bronchiectasis in all cases with pneumatoceles and/or cavities. Exome and genome sequencing showed truncating variants in the proximal cytoplasmic region of IL6ST. All patients were evaluated for ABPA and had elevated specific IgE or a positive skin prick test to Aspergillus fumigatus, positive Aspergillus IgG precipitins, and/or eosinophilia (mean 1562 absolute cells/uL). One also had invasive pulmonary aspergillosis. CONCLUSIONS: We described four patients with pathogenic variants in IL6ST (three novel) and destructive lung disease consistent with ABPA. Whether exaggerated type 2 responses to Aspergillus drives structural lung disease in these patients requires further studies.
Abstract Number: 516
Conference Year: 2023
Link to conference website: https://aaaai.planion.com/Web.User/SearchSessions?ACCOUNT=AAAAI&CONF=AM2023&USERPID=PUBLIC&ssoOverride=OFF&MOPT=Search_Sessions&standalone=YES
Link Conference abstract:
Conference abstracts, posters & presentations
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Title
Author
Year
Number
Poster
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v
Mrs Ange Brennan (UK)
2024
n/a
-
v
Tianyu Lianga, Nir Osherovb, Ruoyu Lia, Qiqi Wanga, Wei Chena, Zhe Wana, Wei Liua*
2024
n/a
-
v
Jillian Simard, MD,1 Christopher Melani, MD,2
Rahul Lakhotia, MD,1
Michail S. Lionakis, MD
ScD,*,3
Stefania Pittaluga, MD PhD,4
James D. Phelan, PhD,*,1 Jagan R. Muppidi, MD
PhD,*,1
Lydia L. Chou, CRNP,*,1
Matthias Holdhoff, MD PhD,*,5 Michael Glantz, MD PhD,*,6
John A. Butman, MD PhD,*,7 Andrea Nicole Lucas, RN,*,8
Seth M. Steinberg, PhD,*,9
Elaine
S. Jaffe, MD,4
Louis M. Staudt, MD PhD,1
Wyndham H. Wilson, MD PhD,1 Mark Roschewski, MD102020
n/a
-
v
Mark Roschewski, MD,1
Christopher Melani, MD,2
Rahul Lakhotia, MD,3
Stefania Pittaluga, MD
PhD,4
James D. Phelan, PhD,*,3
Cody Peer, PhD,*,5 Michail S. Lionakis, MD ScD,*,6 Lydia
L. Chou, CRNP,*,3 Matthias Holdhoff, MD PhD,*,7 Michael Glantz, MD PhD,*,8 Jan Drappatz, MD,*,9
Catherine Lai, MD MPH,10 John A. Butman, MD PhD,*,11 Andrea Nicole Lucas, RN,*,12 Seth
M. Steinberg, PhD,*,13 William D. Figg, PhD,*,14 Elaine S. Jaffe, MD,4
S. Percy Ivy, MD,*,15
Richard F. Little, MDMPH,16 Louis M. Staudt, MD PhD,3
Wyndham H. Wilson, MD PhD32020
n/a
-
v
Binav Baral, MD,*,1 Prasanth Lingamaneni,*,2 Trilok Shrivastava, MD,*,3 Maryam Zia,4 Ishaan Vohra, MD,*,2
Krishna Rekha Moturi*,32020
903
n/a
-
v
Maxwell Green1, Scout Treadwell1, Geetha Gowda1, John Carlson, MD, PhD2
2023
610
n/a
-
v
Catherine Blackwood, PhD1 , Angela Lemons, MS2 , Rachael Rush3 , Walter McKinney2 , Dori Germolec4 , Donald Beezhold, PhD2 , Brett Green, PhD5 , Tara Croston, PhD6
2023
583
n/a
-
v
Catherine Blackwood, PhD1 , Angela Lemons, MS2 , Rachael Rush3 , Walter McKinney2 , Dori Germolec4 , Donald Beezhold, PhD2 , Brett Green, PhD5 , Tara Croston, PhD6
2023
583
n/a
-
v
Utkucan Acar, Gloria Sheng, Terrie Ahn, Lisa Kohn, Maria Garcia Lloret, Manish Butte
2022
82
n/a
-
v
C Gutierrez Perez1*, S Dhingra1,2, SM Kwansy3, TJ Opperman3, RA Cramer1
2022
93