Page 1 | Search Results | Journal of Human Immunity

1-20 of 89

Sort by

Sort Order Select

Journal Articles

Functional characterization of Griscelli syndrome type 2 sine albinism in Japanese patients

Tatsuhiko Tanaka, Akira Sugawara, Ryuhei Yasuoka, Kimiyoshi Sakaguchi, Osamu Natsume, Kentaro Haga, Yuto Maruta, Akie Kobayashi, Tomohiko Sato, Erina Saito, Satoko Minakawa, Yuiko Hirata, Hirofumi Shibata, Takahiro Yasumi, Masaki Shimizu, Hirokazu Kanegane, Ko Kudo, Mitsunori Fukuda, Kiminori Teui

J Hum Immun (2026) 2 (4): e20250270.

https://doi.org/10.70962/jhi.20250270

Published: 07 May 2026

View article titled, Functional characterization of Griscelli syndrome type 2 sine albinism in Japanese patients

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

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

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

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

Includes: Supplementary data

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

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

Includes: Supplementary data

Journal Articles

How I Treat: Haploinsufficiency of A20

Jonathan Li, Jeffrey Y. Zhou, Manuel Carpio Tumba, Tingyan He, Kader Cetin Gedik, Daniella M. Schwartz

J Hum Immun (2026) 2 (4): e20250138.

https://doi.org/10.70962/jhi.20250138

Published: 04 May 2026

View article titled, How I Treat: Haploinsufficiency of A20

Includes: Supplementary data

Journal Articles

How I Treat: Immune dysregulation in Down syndrome

Melissa Gans, Matthew Wyke, Kayra Somay, Willa Thorson, Dusan Bogunovic

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

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

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

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

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

Journal Articles

Expanding the scope of PI3K-δ inhibition: Leniolisib treatment in PRKCD deficiency

Lorenzo Lodi, Valentina Guarnieri, Matilde Peri, Manuela Baronio, Silvia Ricci, Clementina Canessa, Francesca Lippi, Marta Voarino, Elisa Calistri, Laura Pisano, Anna Perrone, Grazia Fenu, Giuseppe Indolfi, Vassilios Lougaris, Rebecca A. Marsh, Chiara Azzari

J Hum Immun (2026) 2 (3): e20250203.

https://doi.org/10.70962/jhi.20250203

Published: 20 April 2026

View article titled, Expanding the scope of PI3K-δ inhibition: Leniolisib treatment in PRKCD deficiency

Includes: Supplementary data

Journal Articles

How I Treat: Chronic granulomatous disease

Jennifer W. Leiding, Leah H. Pettiford, Christopher C. Chang, Aimee M. Dassner, Mary C. Dinauer, Benjamin R. Hanisch, Nada Harik, Elizabeth D. Hicks, Harry L. Malech, Felicia B. Morton, Peter E. Newburger, Kathleen E. Sullivan, Brant R. Ward, Michael D. Keller

J Hum Immun (2026) 2 (3): e20250162.

https://doi.org/10.70962/jhi.20250162

Published: 16 April 2026

View article titled, How I Treat: Chronic granulomatous disease

Includes: Supplementary data

Journal Articles

Human CD21^loT-bet⁺ B cells: Not as easy as “ABC”!

Stuart G. Tangye

J Hum Immun (2026) 2 (4): e20260023.

https://doi.org/10.70962/jhi.20260023

Published: 16 April 2026

View article titled, Human CD21loT-bet+ B cells: Not as easy as “ABC”!

Journal Articles

Not getting the nod: The case against Yao syndrome

Paul E. Gray, Seth L. Masters, Edwin P. Kirk

J Hum Immun (2026) 2 (3): e20250224.

https://doi.org/10.70962/jhi.20250224

Published: 03 April 2026

View article titled, Not getting the nod: The case against Yao syndrome

Journal Articles

Refractory infantile IPEX with Treg-restricted FOXP3null expression caused by a novel variant in FOXP3

Ahmad Rayes, Akshaya Ramachandran, Michael A. Pulsipher, J. Gregory Dolan, Soohee Cho, Amanda K. Johnson, Jessie L. Alexander, Simon Borna, Rosa Bacchetta

J Hum Immun (2026) 2 (3): e20250249.

https://doi.org/10.70962/jhi.20250249

Published: 27 March 2026

View article titled, Refractory infantile IPEX with Treg-restricted FOXP3null expression caused by a novel variant in FOXP3

Includes: Supplementary data

Journal Articles

Toward a monogenic architecture of human infections: From 1996 to 2026

Jean-Laurent Casanova

J Hum Immun (2026) 2 (3): e20260027.

https://doi.org/10.70962/jhi.20260027

Published: 27 March 2026

View article titled, Toward a monogenic architecture of human infections: From 1996 to 2026

Journal Articles

Familial lupus associated with a P2RY8 variant: Navigating the boundary between monogenic disease and genetic susceptibility to lupus

Clémence David, Anne Welfringer-Morin, Luis Seabra, Yanick J. Crow, Marie Jachiet, Marie-Louise Frémond

J Hum Immun (2026) 2 (3): e20260007.

https://doi.org/10.70962/jhi.20260007

Published: 27 March 2026

View article titled, Familial lupus associated with a P2RY8 variant: Navigating the boundary between monogenic disease and genetic susceptibility to lupus

Journal Articles

Except the unexpected: A TIPIC syndrome in a child with IPEX

Vincent Fréret, Klervie Loiselet, Benjamin Terrier, Marie-Louise Frémond, Bénédicte Neven, Agathe Escudier

J Hum Immun (2026) 2 (3): e20250246.

https://doi.org/10.70962/jhi.20250246

Published: 25 March 2026

View article titled, Except the unexpected: A TIPIC syndrome in a child with IPEX

Journal Articles

From variants to answers: The evolution of genetic counseling in IEI

Blanca García-Solís, Rebeca Pérez de Diego, Silvia Sánchez-Ramón

J Hum Immun (2026) 2 (3): e20250211.

https://doi.org/10.70962/jhi.20250211

Published: 20 March 2026

View article titled, From variants to answers: The evolution of genetic counseling in IEI

Journal Articles

Apolipoproteins L involvement in immunity

Etienne Pays

J Hum Immun (2026) 2 (3): e20250259.

https://doi.org/10.70962/jhi.20250259

Published: 19 March 2026

View article titled, Apolipoproteins L involvement in immunity

Journal Articles

Hematopoietic stem cell transplantation as a curative treatment for Nck-associated protein 1-like (HEM1) deficiency: A first case report

Julian Thalhammer, Bénédicte Bruno, Sylvain Latour, Benjamin Fournier, Wadih Abou Chahla

J Hum Immun (2026) 2 (3): e20250228.

https://doi.org/10.70962/jhi.20250228

Published: 17 March 2026

View article titled, Hematopoietic stem cell transplantation as a curative treatment for Nck-associated protein 1-like (HEM1) deficiency: A first case report

Journal Articles

Polyclonal evolution of lymphoproliferative disorders in XLP1

Dan Tomomasa, Akira Nishimura, Kenichi Yoshida, Yui Namikawa, Doo Ri Kim, Naoki Sakata, Kenichi Sakamoto, Takashi Taga, Yuta Sakai, Yasuhiro Ikawa, Toshiaki Ishida, Areum Shin, Keon Hee Yoo, Yae-Jean Kim, Seishi Ogawa, Akihiro Hoshino, Tomohiro Morio, Masatoshi Takagi, Hirokazu Kanegane

J Hum Immun (2026) 2 (3): e20250202.

https://doi.org/10.70962/jhi.20250202

Published: 12 March 2026

View article titled, Polyclonal evolution of lymphoproliferative disorders in XLP1

Update search

NARROW

Format

Subjects

Journal

Article Type

Date

Functional characterization of Griscelli syndrome type 2 sine albinism in Japanese patients

Primary atopic disorders: Monogenic insights into immunity

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

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

How I Treat: Haploinsufficiency of A20

How I Treat: Immune dysregulation in Down syndrome

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

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

Expanding the scope of PI3K-δ inhibition: Leniolisib treatment in PRKCD deficiency

How I Treat: Chronic granulomatous disease

Human CD21^loT-bet⁺ B cells: Not as easy as “ABC”!

Not getting the nod: The case against Yao syndrome

Refractory infantile IPEX with Treg-restricted FOXP3null expression caused by a novel variant in FOXP3

Toward a monogenic architecture of human infections: From 1996 to 2026

Familial lupus associated with a P2RY8 variant: Navigating the boundary between monogenic disease and genetic susceptibility to lupus

Except the unexpected: A TIPIC syndrome in a child with IPEX

From variants to answers: The evolution of genetic counseling in IEI

Apolipoproteins L involvement in immunity

Hematopoietic stem cell transplantation as a curative treatment for Nck-associated protein 1-like (HEM1) deficiency: A first case report

Polyclonal evolution of lymphoproliferative disorders in XLP1

Email alerts