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Human germline biallelic loss-of-function OSMR variants cause severe allergic disease

Simran Samra, Mehul Sharma, Julia Körholz, Yihui Liu, Alyssa James, Christina Michalski, Pariya Yousefi, Kate L. Del Bel, Henry Y. Lu, Ashish A. Sharma, Maja Tarailo-Graovac, Joshua Dalmann, Lily Buder, Bhavi Modi, Ralf Wiedemuth, Liam Golding, Britt Drögemöller, Géraldine Blanchard-Rohner, Christof Senger, Wingfield Rehmus, Julie S. Prendiville, Massimo Mangino, Colin J. Ross, Clara D.M. van Karnebeek, Wyeth W. Wasserman, Sergio D. Rosenzweig, Julie Niemela, Pascal M. Lavoie, P. M. Prathibha, Oliver Wegehaupt, Catherine M. Biggs, Michael Boehnke, Leena Kinnunen, Heikki A. Koistinen, Margaret L. McKinnon, Jonas Maximillian Breuer, Jana Schönenkorb, Robert Brock, Sarah Thull, Christian Netzer, Clara Velmans, Norah Altuwaijri, Issam R. Hamadah, Ruqaiah Altassan, Ahmed Alfares, Sateesh Maddirevula, Siddaramappa Jagdish Patil, Diana K. Bayer, Jonathan J. Lyons, Stuart E. Turvey

J Hum Immun (2026) 2 (4): e20260067.

https://doi.org/10.70962/jhi.20260067

Published: 28 May 2026

View article titled, Human germline biallelic loss-of-function OSMR variants cause severe allergic disease

Includes: Supplementary data

Journal Articles

Severe Multisystem Autoimmunity and Atopy in a Child with a Loss-of-Function IKAROS Variant

Ashay Chandra, MD, Joshua Owens, MD, Sergio D. Rosenzweig, MD, PhD, Hye Sun Kuehn, PhD, Taylor Eddens, MD, PhD, Christin Deal, MD, Daniel A Kietz, MD, PhD, Daniella Schwartz, MD, Hey Chong, MD, PhD

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.98.

https://doi.org/10.70962/CIS2026abstract.98

Published: 01 May 2026

View article titled, Severe Multisystem Autoimmunity and Atopy in a Child with a Loss-of-Function IKAROS Variant

Journal Articles

Distinct Immunological Phenotype in Galactosemia Type 3 Patients with Biallelic GALE Mutations

Juyoung Kim, Luis I. González-Granado, Alejandro D. Iglesias, Jennifer L. Stoddard, Ana Esteve-Sole, Julie E. Niemela, Agustin A. Gil Silva, Hye Sun Kuehn, Sergio D. Rosenzweig

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.52.

https://doi.org/10.70962/CIS2026abstract.52

Published: 01 May 2026

View article titled, Distinct Immunological Phenotype in Galactosemia Type 3 Patients with Biallelic GALE Mutations

Journal Articles

IRF4 p.T95R Combined Immunodeficiency: Clinical Features and Transplant Outcomes

Mattison P. Stojcic, Makenzie A. Manning, Miguel Galicchio, Manfred Hönig, Despina Moshous, Sven Kracker, Felipe Suarez, Ruben Martinez-Barricarte, Aidé Tamara Staines-Boone, Yuridia Salazar Gálvez, Vignesh Pandiarajan, Sergio D. Rosenzweig, Klaus Schwarz, Catherine M. Biggs, Jacob Rozmus, Stuart E. Turvey

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.220.

https://doi.org/10.70962/CIS2026abstract.220

Published: 01 May 2026

View article titled, IRF4 p.T95R Combined Immunodeficiency: Clinical Features and Transplant Outcomes

Journal Articles

Germline JAK3 Variants Associated with Severe Atopic Dermatitis

Crhistian Toribio-Dionicio, Yihui Liu, Celeste Nelson, Tom DiMaggio, Julie Niemela, Sergio D. Rosenzweig, Kelly D. Stone, Justin Lack, Jonathan J. Lyons

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.228.

https://doi.org/10.70962/CIS2026abstract.228

Published: 01 May 2026

View article titled, Germline JAK3 Variants Associated with Severe Atopic Dermatitis

Includes: Supplementary data

Journal Articles

PPM1D-Mediated Regulation of the DNA Damage Repair Pathway in NK Cell Development and Migration

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.110.

https://doi.org/10.70962/CIS2025abstract.110

Published: 25 April 2025

View article titled, PPM1D-Mediated Regulation of the DNA Damage Repair Pathway in NK Cell Development and Migration

Journal Articles

Clinical Characteristics and Outcomes of Leukemia in Patients with Germline IKZF1 Mutations

Harry Layton Lesmana, Seth Rotz, Hye Sun Kuehn, Sergio D Rosenzweig

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.192.

https://doi.org/10.70962/CIS2025abstract.192

Published: 25 April 2025

View article titled, Clinical Characteristics and Outcomes of Leukemia in Patients with Germline IKZF1 Mutations

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Human germline biallelic loss-of-function OSMR variants cause severe allergic disease

Severe Multisystem Autoimmunity and Atopy in a Child with a Loss-of-Function IKAROS Variant

Distinct Immunological Phenotype in Galactosemia Type 3 Patients with Biallelic GALE Mutations

IRF4 p.T95R Combined Immunodeficiency: Clinical Features and Transplant Outcomes

Germline JAK3 Variants Associated with Severe Atopic Dermatitis

PPM1D-Mediated Regulation of the DNA Damage Repair Pathway in NK Cell Development and Migration

Clinical Characteristics and Outcomes of Leukemia in Patients with Germline IKZF1 Mutations

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Update search

Human germline biallelic loss-of-function OSMR variants cause severe allergic disease

Severe Multisystem Autoimmunity and Atopy in a Child with a Loss-of-Function IKAROS Variant

Distinct Immunological Phenotype in Galactosemia Type 3 Patients with Biallelic GALE Mutations

IRF4 p.T95R Combined Immunodeficiency: Clinical Features and Transplant Outcomes

Germline JAK3 Variants Associated with Severe Atopic Dermatitis

PPM1D-Mediated Regulation of the DNA Damage Repair Pathway in NK Cell Development and Migration

Clinical Characteristics and Outcomes of Leukemia in Patients with Germline IKZF1 Mutations

Email alerts

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