T and B cell combined deficiencies
Close
Follow your search
Access your saved searches in your account
Would you like to receive an alert when new items match your search?
Close Modal
Sort by
Journal Articles

Allogeneic hematopoietic cell transplantation is curative in CARMIL2 deficiency

Johannes Raedler, Florian Gothe, Thomas Magg, Philipp Peters, Karen Helene Bronken Martinsen, Ursula Holzer, Ayca Kiykim, Ayse Kalyoncu Ucar, Roshini S. Abraham, Hemalatha G. Rangarajan, Adeeb NaserEddin, Polina Stepensky, Irina Zaidman, Ehud Even-Or, Joern-Sven Kuehl, Daniel Graefe, Venetia Bigley, Christo Tsilifis, Anders Fasth, Nizar Mahlaoui, Oliver Wegehaupt, Carsten Speckmann, Jean-Laurent Casanova, Christoph Klein, Bénédicte Neven, Vivien Béziat, Romain Lévy, Fabian Hauck
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20250200.
https://doi.org/10.70962/jhi.20250200
Published: 29 July 2026
View article titled, Allogeneic hematopoietic cell transplantation is curative in CARMIL2 deficiency
Open the PDF for Allogeneic hematopoietic cell transplantation is curative in CARMIL2 deficiency in another window
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
Open the PDF for A case of progressive multifocal leukoencephalopathy in an adult patient with ADA-SCID in another window
Journal Articles

Newborn screening reduces survival disparities in SCID after stem cell transplant: A PIDTC report

Lena E. Winestone, Brent R. Logan, Xuerong Liu, Olatundun Williams, Elizabeth A. Dunn, Monica S. Thakar, Sharon A. Kidd, Talal Mousallem, Morna J. Dorsey, Richard J. O’Reilly, Neena Kapoor, Lisa Forbes Satter, Malika Kapadia, Soma C. Jyonouchi, Sharat Chandra, Christen L. Ebens, Deepakbabu Chellapandian, Sonali Chaudhury, Karin Chen, Blachy J. Dávila Saldaña, Ahmad Rayes, Troy C. Quigg, Shanmuganathan Chandrakasan, Jeffrey J. Bednarski, Kenneth B. DeSantes, Pierre Teira, Alfred P. Gillio, Hesham Eissa, Alan P. Knutsen, Victor M. Aquino, Evan B. Shereck, Theodore B. Moore, Emi H. Caywood, Mark T. Vander Lugt, Jacob Rozmus, Larisa Broglie, Lolie C. Yu, Ami J. Shah, Avni Y. Joshi, Rebecca H. Buckley, Jasmeen Dara, Joseph H. Oved, Hisham Abdel Azim, Caridad A. Martinez, Susan Prockop, Kathleen E. Sullivan, Jack J. Bleesing, Michael D. Keller, Lisa M. Madden, Suhag Parikh, Shalini Shenoy, Christine M. Seroogy, Tamar Rubin, Jennifer Licata, Jeffrey R. Andolina, Donald B. Kohn, Lauri Burroughs, Jennifer W. Leiding, Rebecca A. Marsh, Luigi D. Notarangelo, Sung-Yun Pai, Troy R. Torgerson, Michael A. Pulsipher, Jennifer Heimall, Geoffrey D.E. Cuvelier, Linda M. Griffith, Jennifer M. Puck, Christopher C. Dvorak, Morton J. Cowan, Elie Haddad
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20250231.
https://doi.org/10.70962/jhi.20250231
Published: 07 July 2026
View article titled, Newborn screening reduces survival disparities in SCID after stem cell transplant: A PIDTC report
Open the PDF for Newborn screening reduces survival disparities in SCID after stem cell transplant: A PIDTC report in another window
Includes: Supplementary data
Journal Articles

Unmanipulated bone marrow infusion without conditioning can rescue RECQL4−/− severe combined immunodeficiency

Alexandra E. Grier, Marita Bosticardo, Francesca Pala, Ottavia M. Delmonte, Kayla Amini, Eduardo Anaya, Neil Romberg, Susan E. McClory, Nancy J. Bunin, Manar Abdalgani, Luigi D. Notarangelo, Jennifer Heimall
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250169.
https://doi.org/10.70962/jhi.20250169
Published: 06 March 2026
View article titled, Unmanipulated bone marrow infusion without conditioning can rescue RECQL4−/− severe combined immunodeficiency
Open the PDF for Unmanipulated bone marrow infusion without conditioning can rescue RECQL4−/− severe combined immunodeficiency in another window
Journal Articles

Novel molecular assays for monitoring T cell function after HSCT in two siblings with variants in DCLRE1C

Anna Lyytikäinen, Yasaman Shamshirgaran, Hedvig Hjerpe, Sara Cajander, Emilie Wahren Borgström, Shaghayegh Gharaghani, Elina Erikson, Sofie Vonlanthen, Per Marits, Ola Hammarsten, C.I. Edvard Smith, Anders Fasth, Pegah Johansson
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250171.
https://doi.org/10.70962/jhi.20250171
Published: 20 February 2026
View article titled, Novel molecular assays for monitoring T cell function after HSCT in two siblings with variants in DCLRE1C
Open the PDF for Novel molecular assays for monitoring T cell function after HSCT in two siblings with variants in DCLRE1C in another window
Journal Articles

Hematopoietic stem cell transplant with a carrier donor rescues CD40L deficiency

Christen L. Ebens, Smitha Hosahalli Vasanna, Diana Vilkama, Tamara C. Pozos, Attila Kumánovics, Alison Hornyak, Amir A. Sadighi Akha
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250212.
https://doi.org/10.70962/jhi.20250212
Published: 17 February 2026
View article titled, Hematopoietic stem cell transplant with a carrier donor rescues CD40L deficiency
Open the PDF for Hematopoietic stem cell transplant with a carrier donor rescues CD40L deficiency in another window
Journal Articles

Managing non-SCID T cell lymphopenia after TREC-based newborn screening

Annelotte J. Duintjer, Robbert G.M. Bredius, J. Merlijn van den Berg, Lisette van de Corput, Willem A. Dik, Mariëlle E. van Gijn, Stefanie S. Henriet, Evelien A. Kemper, Taco W. Kuijpers, G. Elizabeth Legger, Joris M. van Montfrans, Liesbeth H. Schölvinck, Clementien L. Vermont, Els Voorhoeve, Gert Weijman, Gijs T.J. van Well, Evelien Zonneveld-Huijssoon, Mirjam van der Burg, Maartje Blom
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (2): e20250205.
https://doi.org/10.70962/jhi.20250205
Published: 05 February 2026
View article titled, Managing non-SCID T cell lymphopenia after TREC-based newborn screening
Open the PDF for Managing non-SCID T cell lymphopenia after TREC-based newborn screening in another window
Includes: Supplementary data
Journal Articles

Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening

Kristine Jeganathan, Adam Byrne, Gabrielle White, Eyal Grunebaum, Elie Haddad, Michael S. Hershfield, Teresa K. Tarrant, Matthew P.A. Henderson, Anne Pham-Huy
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250102.
https://doi.org/10.70962/jhi.20250102
Published: 10 November 2025
View article titled, Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening
Open the PDF for Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening in another window
Journal Articles

A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds

Pauline Ober, Christelle Lenoir, Arnaud Maillard, Marie-Gabrielle Vigue, Marjolaine Willems, Sandrine Baron-Joly, Carole E. Aubert, Eva Maria Tinner, Nathalie Lambert, Iben El Missaoui, Frédéric Parisot, Antoine Fayand, Yoann Seeleuthner, Sylvain Hanein, Tom Le Voyer, Martin Broly, Guilaine Boursier, Jean-Laurent Casanova, Peng Zhang, Jana Pachlopnik Schmid, Sylvain Latour, Jérémie Rosain
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250181.
https://doi.org/10.70962/jhi.20250181
Published: 30 October 2025
View article titled, A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds
Open the PDF for A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds in another window
Journal Articles

Cartilage-hair hypoplasia: A comprehensive review

Svetlana Vakkilainen
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250142.
https://doi.org/10.70962/jhi.20250142
Published: 01 October 2025
View article titled, Cartilage-hair hypoplasia: A comprehensive review
Open the PDF for Cartilage-hair hypoplasia: A comprehensive review in another window
Includes: Supplementary data
Journal Articles

Clinical challenges following early detection of ataxia telangiectasia through SCID newborn screening

Thomas J. Weitering, Dagmar Berghuis, Maartje Blom, Michel A.A.P. Willemsen, Mirjam van der Burg
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250052.
https://doi.org/10.70962/jhi.20250052
Published: 17 September 2025
View article titled, Clinical challenges following early detection of ataxia telangiectasia through SCID newborn screening
Open the PDF for Clinical challenges following early detection of ataxia telangiectasia through SCID newborn screening in another window
Includes: Supplementary data
Journal Articles

Phantom of the immunologic opera: Unmasking the role of innate lymphoid cells (ILC) in inborn errors of immunity (IEI)

Ahmet Eken, Sara Johnson, Serife Erdem, Elena W.Y. Hsieh
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250045.
https://doi.org/10.70962/jhi.20250045
Published: 10 September 2025
View article titled, Phantom of the immunologic opera: Unmasking the role of innate lymphoid cells (ILC) in inborn errors of immunity (IEI)
Open the PDF for Phantom of the immunologic opera: Unmasking the role of innate lymphoid cells (ILC) in inborn errors of immunity (IEI) in another window
Journal Articles

MAGIS syndrome: Phenotypes, pathogenesis, and treatment

Ian T. Lamborn, Huie Jing, Eesha Chattopadhyay, Hyoungjun Ham, Yu Zhang, Helen C. Su
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250065.
https://doi.org/10.70962/jhi.20250065
Published: 14 August 2025
View article titled, MAGIS syndrome: Phenotypes, pathogenesis, and treatment
Open the PDF for MAGIS syndrome: Phenotypes, pathogenesis, and treatment in another window
Journal Articles

Functional validation of PIK3R1 variant causing activated phosphoinositide 3-kinase-δ syndrome 2 with hypogammaglobulinemia and bronchiectasis

Marat Kribis, Bradly M. Bauman, Cullen M. Dutmer, Jordan Abbott, Jason Catanzaro, Carrie L. Lucas
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250085.
https://doi.org/10.70962/jhi.20250085
Published: 13 August 2025
View article titled, Functional validation of PIK3R1 variant causing activated phosphoinositide 3-kinase-δ syndrome 2 with hypogammaglobulinemia and bronchiectasis
Open the PDF for Functional validation of PIK3R1 variant causing activated phosphoinositide 3-kinase-δ syndrome 2 with hypogammaglobulinemia and bronchiectasis in another window
Includes: Supplementary data
Journal Articles

IKZF-associated inborn errors of immunity

Motoi Yamashita, Tomohiro Morio
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250063.
https://doi.org/10.70962/jhi.20250063
Published: 18 July 2025
View article titled, IKZF-associated inborn errors of immunity
Open the PDF for IKZF-associated inborn errors of immunity in another window
Includes: Supplementary data
This Feature Is Available To Subscribers Only

or Create an Account

Close Modal
Close Modal