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Journal Articles

Temporal windowing of recurrent sinusitis improves EHR-based immunodeficiency classification

Aaron T. Chin, Rachel Mester, Veronica Tozzo, Alexis V. Stephens, Lisa A. Bastarache, Bogdan Pasaniuc, Manish J. Butte
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (6): e20260047.
https://doi.org/10.70962/jhi.20260047
Published: 31 August 2026
View article titled, Temporal windowing of recurrent sinusitis improves EHR-based immunodeficiency classification
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Includes: Supplementary data
Journal Articles

Iterative genetic testing identifies SAMHD1 deficiency caused by a homozygous balanced translocation

Paul J. Baker, Yaoyuan Zhang, Imogen Bishop, Madeline L. Cleveland, Alexandra L. McAllan, Georgina E. Hollway, Ravikiran Vedururu, Amit Kumar, Raj Krishnaswamy, Ken L. Wan, Peter A. Kaub, Emma L. Brown, Dhanya Lakshmi Narayanan, Ira W. Deveson, CIRCA, AADRY, Peter Gowdie, William D. Renton, Samar Ojaimi, Andrew P. Fennell, Seth L. Masters
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (6): e20260044.
https://doi.org/10.70962/jhi.20260044
Published: 26 August 2026
View article titled, Iterative genetic testing identifies SAMHD1 deficiency caused by a homozygous balanced translocation
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Includes: Supplementary data
Journal Articles

STAT1 gain-of-function variant in a previously healthy patient with disseminated Mycobacterium genavense infection

Kavitha Thiagarajan, Huan Vinh Dong, Caroline Y. Kuo, Timothy J. Thauland, Sheeja Pullarkat, Manish J. Butte, Maria I. Garcia-Lloret, Karin Nielsen-Saines
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (6): e20250139.
https://doi.org/10.70962/jhi.20250139
Published: 25 August 2026
View article titled, STAT1 gain-of-function variant in a previously healthy patient with disseminated Mycobacterium genavense infection
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Journal Articles

Autosomal recessive OSMRβ deficiency: Connecting OSM and/or IL-31 with atopy

Anne Puel, Jean-Laurent Casanova, Vivien Béziat
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20260115.
https://doi.org/10.70962/jhi.20260115
Published: 19 August 2026
View article titled, Autosomal recessive OSMRβ deficiency: Connecting OSM and/or IL-31 with atopy
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Journal Articles

Multidisciplinary genomic evaluation reveals adult inborn errors of immunity with rheumatic features

Hiroyuki Baba, Tadashi Hosoya, Taiki Yamaguchi, Takuji Itakura, Hirokazu Sasaki, Natsuka Umezawa, Tetsuya Saito, Naoki Kimura, Ryuji Koike, Masayuki Yoshida, Masaki Shimizu, Hirokazu Kanegane, Shinsuke Yasuda
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20250218.
https://doi.org/10.70962/jhi.20250218
Published: 10 August 2026
View article titled, Multidisciplinary genomic evaluation reveals adult inborn errors of immunity with rheumatic features
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Includes: Supplementary data
Journal Articles

Clinical, genetic, and immunologic features of APS-1 patients from the Middle East, and a review of the literature

Elsa Lamah, Nouf Mohammed Althubaiti, Youmna El-Orfali, Hagop Mardirossian, Habib Alkalamouni, Abdulrahman N. Aljaber, Musaab Alhezam, Nader G. Zalaquett, Rana Mansour, Rima Hanna-Wakim, Fayhan Alroqi, Michel J. Massaad
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20250254.
https://doi.org/10.70962/jhi.20250254
Published: 03 August 2026
View article titled, Clinical, genetic, and immunologic features of APS-1 patients from the Middle East, and a review of the literature
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Includes: Supplementary data
Journal Articles

Does CVID exist in children? A genetic architecture and manifestation map derived from 7,525 patients

Antonios Gkantaras, ESID Registry Working Party, Markus G. Seidel
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20260091.
https://doi.org/10.70962/jhi.20260091
Published: 23 July 2026
View article titled, Does CVID exist in children? A genetic architecture and manifestation map derived from 7,525 patients
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Includes: Supplementary data
Journal Articles

A case of progressive multifocal leukoencephalopathy in an adult patient with ADA-SCID

Hannah Shin, Lori Broderick, Jessica Azevedo, Caitlin Mulligan, Kari Hird, Vanessa Goodwill, Courtney Parkin, Stephanie Mortensen, Madisen Traveller, Ahmad Rayes, John Bohnsack, Donald B. Kohn, Teresa K. Tarrant, Michael Hershfield, Jonathan J. Lyons
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20250093.
https://doi.org/10.70962/jhi.20250093
Published: 21 July 2026
View article titled, A case of progressive multifocal leukoencephalopathy in an adult patient with ADA-SCID
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Journal Articles

Clinical considerations for immune dysregulation and immunodeficiency in Down syndrome

Melissa Gans, Juanita Valdes Camacho, Matthew Wyke, Kasama Manothummetha, Harry Lesmana, Jacqueline Squire, Joao Pedro Lopes, Erica G. Schmitt, Hanadys Ale, Junghee J. Shin, Natalia Chaimowitz, Carolyn Baloh, Dusan Bogunovic, Joaquin Espinosa
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20260052.
https://doi.org/10.70962/jhi.20260052
Published: 15 July 2026
View article titled, Clinical considerations for immune dysregulation and immunodeficiency in Down syndrome
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Journal Articles

TTC7A deficiency: A retrospective international study on treatment and outcomes from the Inborn Errors Working Party of EBMT

Giulia Prunotto, Marie Parreillet, Bénédicte Neven, Despina Moshous, Genevieve de Saint Basile, Caroline Lindemans, Timothy Ronan Leahy, Elie Haddad, Herbert Pichler, Joao Farela Neves, Mary Slatter, Nasrine Radwan, Carsten Speckmann, Christos Tzivinikos, Edward J. Hoffenberg, Chee Y. Ooi, Alberto Pinzon-Charry, Looi C. Ee, Silvia Ricci, Michael H. Albert, Jonathan O’Donnell, Austen Worth, Holm H. Uhlig, Aleixo Muise, Giovanna Lucchini
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20250271.
https://doi.org/10.70962/jhi.20250271
Published: 08 July 2026
View article titled, TTC7A deficiency: A retrospective international study on treatment and outcomes from the Inborn Errors Working Party of EBMT
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Journal Articles

Functional studies in a neonate with a DOCK11 VUS guide clinical care

Patrick O’Connell, Conor Gruber, Sofija Buta-Panov, Jaya Ganesh, NY-ROYAL Consortium, Dusan Bogunovic
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20260053.
https://doi.org/10.70962/jhi.20260053
Published: 30 June 2026
View article titled, Functional studies in a neonate with a DOCK11 VUS guide clinical care
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Includes: Supplementary data
Journal Articles

A homozygous CTLA-4 variant causes CTLA-4 deficiency with severe immune dysregulation

Mehmet Cihangir Catak, Salim Can, Satanay Hubrack, Feyza Bayram Catak, Asha Elmi, Royala Babayeva, Razin Amirov, Melek Yorgun Altunbas, Sevgi Bilgic Eltan, Deniz Ertem, Baris Yilmaz, Ahmet Koc, Batu Erman, Emine Bozkurtlar, Elif Karakoc-Aydiner, Ahmet Ozen, Bernice Lo, Safa Baris
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20250227.
https://doi.org/10.70962/jhi.20250227
Published: 09 June 2026
View article titled, A homozygous CTLA-4 variant causes CTLA-4 deficiency with severe immune dysregulation
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Includes: Supplementary data
Journal Articles

C5 inhibition restores B cell homeostasis and humoral immunity in CHAPLE disease patients

Azzeddine Tahiat, Reda Belbouab, Abdelghani Yagoubi, Sofija Buta Panov, Lorenzo Cuollo, Kamel Djenouhat, Dusan Bogunovic
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20260042.
https://doi.org/10.70962/jhi.20260042
Published: 26 May 2026
View article titled, C5 inhibition restores B cell homeostasis and humoral immunity in CHAPLE disease patients
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Includes: Supplementary data
Journal Articles

Adult-onset STING-associated vasculopathy

Thomas R. Riley, IV, Jonathan J. Kotzin, Debby J. Park, Shubhasree Banerjee, Asako Takanohashi, Adeline Vanderver, Penn Medicine Biobank, Joshua F. Baker, Amanda V. Finck, Jonathan J. Miner
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20250235.
https://doi.org/10.70962/jhi.20250235
Published: 11 May 2026
View article titled, Adult-onset STING-associated vasculopathy
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Includes: Supplementary data
Journal Articles

Primary atopic disorders: Monogenic insights into immunity

Bhavi P. Modi, Cassandra McDonald, Liam Golding, Leandro B.R. Da Silva, Catherine M. Biggs, Julia Körholz, Elliot L. James, Stuart E. Turvey
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20260006.
https://doi.org/10.70962/jhi.20260006
Published: 07 May 2026
View article titled, Primary atopic disorders: Monogenic insights into immunity
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Journal Articles

Ribosomal RNA processing impairments in a B cell immunodeficient patient with WDR75 variants

Nidia Moreno-Corona, Alice Valagussa, Lucie Poggi, Orestes Lopez-Ortega, Cécile Masson, Mohammed Zarhrate, Alexis Bertrand, Capucine Picard, Patrick Revy, Damien Bodet, Jérémie Rouger, Martin Castelle, Alain Fischer, Marie-Françoise O'Donohue, Sven Kracker
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20250061.
https://doi.org/10.70962/jhi.20250061
Published: 06 May 2026
View article titled, Ribosomal RNA processing impairments in a B cell immunodeficient patient with WDR75 variants
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Includes: Supplementary data
Journal Articles

X-linked SEPTIN6-related congenital neutropenia and B cell deficiency

Lauren M. Gunderman, Aleksandra Petrovic, Ingrid Lundgren, Karen M. Chisholm, Sandra D. Bohling, Jonathan R. Fromm, Alexandra Ferrannini, Troy R. Torgerson, Cullen M. Dutmer, Elena W.Y. Hsieh, Safa F. Mohamad, David A. Williams, Eric J. Allenspach
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20250173.
https://doi.org/10.70962/jhi.20250173
Published: 04 May 2026
View article titled, X-linked SEPTIN6-related congenital neutropenia and B cell deficiency
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Includes: Supplementary data
Journal Articles

How I Treat: Immune dysregulation in Down syndrome

Melissa Gans, Matthew Wyke, Kayra Somay, Willa Thorson, Dusan Bogunovic
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20250161.
https://doi.org/10.70962/jhi.20250161
Published: 04 May 2026
View article titled, How I Treat: Immune dysregulation in Down syndrome
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Journal Articles

Fibroblast-driven collagen expansion and altered thymic medullary niches in 22q11.2 deletion syndrome

Viktoria Hennings, Jenny Lingman Framme, Karolina Thörn, Christina Lundqvist, Andri Lemarquis, Solveig Oskarsdottir, Esbjörn Telemo, Åsa Björklund, Olov Ekwall
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20260011.
https://doi.org/10.70962/jhi.20260011
Published: 04 May 2026
View article titled, Fibroblast-driven collagen expansion and altered thymic medullary niches in 22q11.2 deletion syndrome
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Includes: Supplementary data
Journal Articles

Clinical and immunological spectrum of five patients with activated phosphoinositide 3-kinase δ syndrome 1: A multicentric study from India

Sagar Bhattad, Neha Singh, Rachna S. Mohite, Jyothi Janardhanan, Srikanta J.T., Anuj Shukla, Srinivas Jakka, Ranjit B. Joseph
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20250251.
https://doi.org/10.70962/jhi.20250251
Published: 21 April 2026
View article titled, Clinical and immunological spectrum of five patients with activated phosphoinositide 3-kinase δ syndrome 1: A multicentric study from India
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