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Healthcare resources for inborn errors of immunity in the Asia-Pacific region

J Hum Immun (2025) 1 (2): e20250023.

https://doi.org/10.70962/jhi.20250023

Published: 13 May 2025

View articletitled, Healthcare resources for inborn errors of immunity in the Asia-Pacific region

Journal Articles

Revisiting X-linked agammaglobulinemia

Hirokazu Kanegane, Kay Tanita, Madoka Nishimura, Dan Tomomasa, Kento Inoue, Toru Kanamori, Akira Nishimura, Hans D. Ochs

J Hum Immun (2025) 1 (1): e20250020.

https://doi.org/10.70962/jhi.20250020

Published: 28 April 2025

View articletitled, Revisiting X-linked agammaglobulinemia

Journal Articles

Brought Back from the Dead: A Case Report on Atypical Hemolytic Uremic Syndrome

Sathya Areti, Albert Jang, Alvin Schmaier, Benjamin Young

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

https://doi.org/10.70962/CIS2025abstract.1

Published: 25 April 2025

View articletitled, Brought Back from the Dead: A Case Report on Atypical Hemolytic Uremic Syndrome

Journal Articles

Two- to Six-Year Clinical Outcomes Prior to Treatment with Cultured Thymus Tissue Implantation in Children with Congenital Athymia

Benjamin Stewart-Bates, Michael Phillips, Elizabeth McCarthy, Samantha Cresoe-Ortiz, Guglielmo Venturi, Geoffrey Hall, Julie Kim-Chang, Paul Martin, John Sleasman

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.100.

https://doi.org/10.70962/CIS2025abstract.100

Published: 25 April 2025

View articletitled, Two- to Six-Year Clinical Outcomes Prior to Treatment with Cultured Thymus Tissue Implantation in Children with Congenital Athymia

Journal Articles

Dissecting the Glycolytic Requirements of Human T cells via G6PC3 Deficiency

Xin Zhen, Matthew Stier, Jerab Perez Caraballo, Megan Dobrose, Edgar Alejandro Medina-Torres, Selma Cecilia Scheffler Mendoza, James Connelly, Luis Ignacio Gonzalez-Granado, Diana Andrea Herrera Sánchez, Patricia O’Farrill Romanillos, Kelly Walkovich, Jeffrey Rathmell, Saul O. Lugo-Reyes, Ruben Martinez-Barricarte

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.104.

https://doi.org/10.70962/CIS2025abstract.104

Published: 25 April 2025

View articletitled, Dissecting the Glycolytic Requirements of Human T cells via G6PC3 Deficiency

Journal Articles

DOCK8 Deficiency: Extended Clinical Phenotypes and the Impact of Somatic Reversions

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.106.

https://doi.org/10.70962/CIS2025abstract.106

Published: 25 April 2025

View articletitled, DOCK8 Deficiency: Extended Clinical Phenotypes and the Impact of Somatic Reversions

Journal Articles

Evaluating Transition and Survival in Adolescents and Young Adults with Inborn Errors of Immunity

Gail Tan, Payton Kim, Danielle Mendonca, Loveita Raymond, Carleigh Kutac, Amanda Salih, Brian Tison, Ivan Chinn, Nicholas Rider, Tiphanie Vogel, Joud Hajjar

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.107.

https://doi.org/10.70962/CIS2025abstract.107

Published: 25 April 2025

View articletitled, Evaluating Transition and Survival in Adolescents and Young Adults with Inborn Errors of Immunity

Journal Articles

Allelic Bias Contributes to Incomplete Penetrance of NK Cell Deficiency

Seungmae Seo, Yong-Oon Ahn, Sagar Patil, Jacqueline Armetta, Madrikha Daphnee Saturne, Nicole Guilz, Everardo Hegewisch-Solloa, Achchhe Patel, Barbara Corneo, Emily Mace

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.109.

https://doi.org/10.70962/CIS2025abstract.109

Published: 25 April 2025

View articletitled, Allelic Bias Contributes to Incomplete Penetrance of NK Cell Deficiency

Journal Articles

Familial Cohort with Novel IRF2BP2 Variant and Autoimmunity

Shifaa Alkotob, Michelle Zelnick, Ivan Chinn

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.11.

https://doi.org/10.70962/CIS2025abstract.11

Published: 25 April 2025

View articletitled, Familial Cohort with Novel IRF2BP2 Variant and Autoimmunity

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

Journal Articles

EML4 Deficiency Causes Alveolar Macrophage Dysfunction and Interstitial Lung Disease

Shruti Swamy, Robert Brink, Chetan Pandit, Paul Gray, Peter Hsu, Elissa Deenick

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.112.

https://doi.org/10.70962/CIS2025abstract.112

Published: 25 April 2025

View articletitled, EML4 Deficiency Causes Alveolar Macrophage Dysfunction and Interstitial Lung Disease

Journal Articles

Thymoma-Associated Autoimmunity Is Th1 Driven and Can Be Ameliorated with Baricitinib

Iivo Hetemäki, Deanna Riley, Timi Martelius, Eliisa Kekäläinen, Alexandra Freeman, Stefania Pittaluga, Michail S. Lionakis

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.113.

https://doi.org/10.70962/CIS2025abstract.113

Published: 25 April 2025

View articletitled, Thymoma-Associated Autoimmunity Is Th1 Driven and Can Be Ameliorated with Baricitinib

Journal Articles

Elevated CD38 Expression and a Concomitant Reduction in NAD+ Levels Underlie CD8+ T Cell Dysfunction in STAT1 GOF

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.118.

https://doi.org/10.70962/CIS2025abstract.118

Published: 25 April 2025

View articletitled, Elevated CD38 Expression and a Concomitant Reduction in NAD+ Levels Underlie CD8+ T Cell Dysfunction in STAT1 GOF

Journal Articles

Enhancer Hijacking of the IGH Locus as a Novel Genetic Mechanism of an Inborn Error of Immunity Leading to Invasive Streptococcus pneumoniae Infection due to Antibody Deficiency

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.119.

https://doi.org/10.70962/CIS2025abstract.119

Published: 25 April 2025

View articletitled, Enhancer Hijacking of the IGH Locus as a Novel Genetic Mechanism of an Inborn Error of Immunity Leading to Invasive Streptococcus pneumoniae Infection due to Antibody Deficiency

Journal Articles

Toll-like Receptor 3 Defect in a Patient with Autoimmune Encephalitis Following HHV-6 Encephalitis

Megan Bannon, Brynne Underwood

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.12.

https://doi.org/10.70962/CIS2025abstract.12

Published: 25 April 2025

View articletitled, Toll-like Receptor 3 Defect in a Patient with Autoimmune Encephalitis Following HHV-6 Encephalitis

Journal Articles

Relapsed and Difficult-to-Treat Histoplasmosis Infection Uncovers a Novel STAT1 Gain-of-Function Variant

Jack Koueik, Daniel Rosenberg

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.123.

https://doi.org/10.70962/CIS2025abstract.123

Published: 25 April 2025

View articletitled, Relapsed and Difficult-to-Treat Histoplasmosis Infection Uncovers a Novel STAT1 Gain-of-Function Variant

Journal Articles

Distinct Classes of Gain-of-Function KIT Mutations Distinguish Morphologic Phenotypes of Systemic Mastocytosis

Andrew Snow, Maria Leondaridis, Brandon Schornack, Jeremy McMurray, Jeffrey Stinson, Amaya James, Xiaoping Sun, Janet Brunader, Joaquin Villar, Clifton Dalgard, Lydia Hellwig, Tracy George, Eric Pryor, Melody Carter, Irina Maric, Nathan Boggs

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.125.

https://doi.org/10.70962/CIS2025abstract.125

Published: 25 April 2025

View articletitled, Distinct Classes of Gain-of-Function KIT Mutations Distinguish Morphologic Phenotypes of Systemic Mastocytosis

Journal Articles

Molecular Circuits Driving Human iTfr Cell Development

Suzanna Rachimi, Emylette Cruz Cabrera, Sam Barnett Dubensky, Neil Romberg

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.126.

https://doi.org/10.70962/CIS2025abstract.126

Published: 25 April 2025

View articletitled, Molecular Circuits Driving Human iTfr Cell Development

Journal Articles

Clinical Implications of Cytopenias in the U.S. Immunodeficiency Network Registry

Rifat Rahman, Laith Haj-Ahmad, Joyce Yu, Manar Abdalgani

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.127.

https://doi.org/10.70962/CIS2025abstract.127

Published: 25 April 2025

View articletitled, Clinical Implications of Cytopenias in the U.S. Immunodeficiency Network Registry

Journal Articles

Monitoring of Immune Recovery After Hematopoietic Stem Cell Transplantation in Patients with Aplastic Anemia by Quantitative Determination of TREC and KREC

Ekaterina Polyakova, Tatyana Shman, Yulia Mareika, Mikhail Belevtsev

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.128.

https://doi.org/10.70962/CIS2025abstract.128

Published: 25 April 2025

View articletitled, Monitoring of Immune Recovery After Hematopoietic Stem Cell Transplantation in Patients with Aplastic Anemia by Quantitative Determination of TREC and KREC

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Healthcare resources for inborn errors of immunity in the Asia-Pacific region

Revisiting X-linked agammaglobulinemia

Brought Back from the Dead: A Case Report on Atypical Hemolytic Uremic Syndrome

Two- to Six-Year Clinical Outcomes Prior to Treatment with Cultured Thymus Tissue Implantation in Children with Congenital Athymia

Dissecting the Glycolytic Requirements of Human T cells via G6PC3 Deficiency

DOCK8 Deficiency: Extended Clinical Phenotypes and the Impact of Somatic Reversions

Evaluating Transition and Survival in Adolescents and Young Adults with Inborn Errors of Immunity

Allelic Bias Contributes to Incomplete Penetrance of NK Cell Deficiency

Familial Cohort with Novel IRF2BP2 Variant and Autoimmunity

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

EML4 Deficiency Causes Alveolar Macrophage Dysfunction and Interstitial Lung Disease

Thymoma-Associated Autoimmunity Is Th1 Driven and Can Be Ameliorated with Baricitinib

Elevated CD38 Expression and a Concomitant Reduction in NAD+ Levels Underlie CD8+ T Cell Dysfunction in STAT1 GOF

Enhancer Hijacking of the IGH Locus as a Novel Genetic Mechanism of an Inborn Error of Immunity Leading to Invasive Streptococcus pneumoniae Infection due to Antibody Deficiency

Toll-like Receptor 3 Defect in a Patient with Autoimmune Encephalitis Following HHV-6 Encephalitis

Relapsed and Difficult-to-Treat Histoplasmosis Infection Uncovers a Novel STAT1 Gain-of-Function Variant

Distinct Classes of Gain-of-Function KIT Mutations Distinguish Morphologic Phenotypes of Systemic Mastocytosis

Molecular Circuits Driving Human iTfr Cell Development

Clinical Implications of Cytopenias in the U.S. Immunodeficiency Network Registry

Monitoring of Immune Recovery After Hematopoietic Stem Cell Transplantation in Patients with Aplastic Anemia by Quantitative Determination of TREC and KREC

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