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Select item 111146641.

Immunological aspects of 22q11.2 deletion syndrome

A. R. Gennery

Cell Mol Life Sci. 2012 Jan; 69(1): 17–27. Published online 2011 Oct 9. doi: 10.1007/s00018-011-0842-z

PMCID:: PMC11114664

Abstract Article PDF–297K

Select item 111132972.

Anna Senegas, Jérémie Gautheron, Alice Gentil Dit Maurin, Gilles Courtois

Cell Mol Life Sci. 2015 Apr; 72(7): 1275–1287. Published online 2014 Nov 29. doi: 10.1007/s00018-014-1793-y

Correction in:: Cell Mol Life Sci. 2015 Apr; 72(7): 1289.

PMCID:: PMC11113297

Abstract Article PDF–1.4M

Select item 110275483.

Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients

Heidi Arponen, Svetlana Vakkilainen, Natalie Tomnikov, Teemu Kallonen, Steffi Silling, Outi Mäkitie, Jaana Rautava

Orphanet J Rare Dis. 2024; 19: 169. Published online 2024 Apr 18. doi: 10.1186/s13023-024-03164-3

PMCID:: PMC11027548

Abstract Article PDF–1.7M

Select item 107121774.

Learning from cerebrospinal fluid drug-resistant HIV escape-associated encephalitis: a case report

Jing Kang, Ziqiu Wang, Ying Zhou, Wen Wang, Ying Wen

Virol J. 2023; 20: 292. Published online 2023 Dec 10. doi: 10.1186/s12985-023-02255-0

PMCID:: PMC10712177

Abstract Article PDF–1.5M

Select item 106618185.

A Narrative Review of the Neurological Manifestations of Human Adenosine Deaminase 2 Deficiency

Mariia Dzhus, Lisa Ehlers, Marjon Wouters, Katrien Jansen, Rik Schrijvers, Lien De Somer, Steven Vanderschueren, Marco Baggio, Leen Moens, Benjamin Verhaaren, Rik Lories, Giorgia Bucciol, Isabelle Meyts

J Clin Immunol. 2023; 43(8): 1916–1926. Published online 2023 Aug 7. doi: 10.1007/s10875-023-01555-y

PMCID:: PMC10661818

Abstract Article PDF–1.0M

Select item 103544466.

B cell abnormalities and autoantibody production in patients with partial RAG deficiency

Qing Min, Krisztian Csomos, Yaxuan Li, Lulu Dong, Ziying Hu, Xin Meng, Meiping Yu, Jolan E. Walter, Ji-Yang Wang

Front Immunol. 2023; 14: 1155380. Published online 2023 Jul 5. doi: 10.3389/fimmu.2023.1155380

PMCID:: PMC10354446

Abstract Article PDF–901K

Select item 102912297.

Combined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review

Adriel Roa-Bautista, Mahreen Sohail, Emma Wakeling, Kimberly C. Gilmour, Mark Davis, Anthony Gait, Giovanna Lucchini, David Cox, Reem Elfeky, Maaike Kusters

Front Immunol. 2023; 14: 1186575. Published online 2023 Jun 12. doi: 10.3389/fimmu.2023.1186575

PMCID:: PMC10291229

Abstract Article PDF–1.3M

Select item 101995568.

Severe combined immunodeficiency: improved survival leading to detection of underlying liver disease

Anusha Vittal, Nehna Abdul Majeed, Elizabeth Garabedian, Jamie Marko, David E Kleiner, Rob Sokolic, Fabio Candotti, Harry Malech, Theo Heller, Christopher Koh

BMC Gastroenterol. 2023; 23: 166. Published online 2023 May 19. doi: 10.1186/s12876-023-02782-8

PMCID:: PMC10199556

Abstract Article PDF–1.5M

Select item 101330489.

Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations

Rasha M. Elhossini, Hasnaa M. Elbendary, Karima Rafat, Raghda M. Ghorab, Mohamed S. Abdel-Hamid

Mol Genet Genomics. 2023; 298(3): 709–720. Published online 2023 Apr 3. doi: 10.1007/s00438-023-02009-1

PMCID:: PMC10133048

Abstract Article PDF–1.3M

Select item 1006218410.

Analyses of thymocyte commitment to regulatory T cell lineage in thymus of healthy subjects and patients with 22q11.2 deletion syndrome

Simon Borna, Beruh Dejene, Uma Lakshmanan, Janika Schulze, Kenneth Weinberg, Rosa Bacchetta

Front Immunol. 2023; 14: 1088059. Published online 2023 Mar 8. doi: 10.3389/fimmu.2023.1088059

PMCID:: PMC10062184

Abstract Article PDF–1.0M

Select item 1003226311.

Multiple Immune Defects in Two Patients with Novel DOCK2 Mutations Result in Recurrent Multiple Infection Including Live Attenuated Virus Vaccine

Wenhui Li, Yuting Sun, Lang Yu, Ran Chen, Rui Gan, Luyao Qiu, Gan Sun, Junjie Chen, Lina Zhou, Yuan Ding, Hongqiang Du, Zhou Shu, Zhiyong Zhang, Xuemei Tang, Yongwen Chen, Xiaodong Zhao, Qin Zhao, Yunfei An

J Clin Immunol. 2023 Mar 22 : 1–15. doi: 10.1007/s10875-023-01466-y [Epub ahead of print]

PMCID:: PMC10032263

Abstract Article PDF–5.0M

Select item 992567612.

Selective ATM inhibition augments radiation-induced inflammatory signaling and cancer cell death

Li-Ya Chiu, Qing Sun, Frank T. Zenke, Andree Blaukat, Lyubomir T. Vassilev

Aging (Albany NY) 2023 Jan 31; 15(2): 492–512. Published online 2023 Jan 17. doi: 10.18632/aging.204487

PMCID:: PMC9925676

Abstract Article PDF–2.4M

Select item 963417913.

Case report: ETS1 gene deletion associated with a low number of recent thymic emigrants in three patients with Jacobsen syndrome

Tina Trachsel, Seraina Prader, Katharina Steindl, Jana Pachlopnik Schmid

Front Immunol. 2022; 13: 867206. Published online 2022 Oct 21. doi: 10.3389/fimmu.2022.867206

PMCID:: PMC9634179

Abstract Article PDF–1.0M

Select item 954849214.

Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature

Hayley A. Ron, Rebecca Scobell, Amy Strong, Elizabeth G. Salazar, Rebecca Ganetzky

Am J Med Genet A. Author manuscript; available in PMC 2023 Nov 1.

Published in final edited form as: Am J Med Genet A. 2022 Nov; 188(11): 3312–3317. Published online 2022 Aug 16. doi: 10.1002/ajmg.a.62956

PMCID:: PMC9548492

Abstract Article PDF–269K

Select item 914159815.

Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation

Andrea Diociaiuti, Roberta Caruso, Silvia Ricci, Rita De Vito, Luisa Strocchio, Daniele Castiglia, Giovanna Zambruno, May El Hachem

Genes (Basel) 2022 May; 13(5): 821. Published online 2022 May 4. doi: 10.3390/genes13050821

PMCID:: PMC9141598

Abstract Article PDF–1.9M

Select item 911078316.

Deficiency of Human Adenosine Deaminase Type 2 – A Diagnostic Conundrum for the Hematologist

Rakesh Kumar Pilania, Aaqib Zaffar Banday, Saniya Sharma, Rajni Kumrah, Vibhu Joshi, Sathish Loganathan, Manpreet Dhaliwal, Ankur Kumar Jindal, Pandiarajan Vignesh, Deepti Suri, Amit Rawat, Surjit Singh

Front Immunol. 2022; 13: 869570. Published online 2022 May 3. doi: 10.3389/fimmu.2022.869570

PMCID:: PMC9110783

Abstract Article PDF–2.6M

Select item 910683817.

Pediatric Gastrointestinal Histopathology in Patients with Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency and Congenital Enteropathy

Katelyn Dannheim, Jodie Ouahed, Michael Field, Scott Snapper, Bram P. Raphael, Sarah C. Glover, Phyllis R. Bishop, Natalie Bhesania, Daniel Kamin, Jay R. Thiagarajah, Jeffrey D. Goldsmith

Am J Surg Pathol. Author manuscript; available in PMC 2023 Jun 1.

Published in final edited form as: Am J Surg Pathol. 2022 Jun 1; 46(6): 846–853. Published online 2022 Jan 5. doi: 10.1097/PAS.0000000000001856

PMCID:: PMC9106838

Abstract Article PDF–3.9M

Select item 903500818.

Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant

Jeroen J. Smits, Suzanne E. de Bruijn, Cornelis P. Lanting, Jaap Oostrik, Luke O’Gorman, Tuomo Mantere, DOOFNL Consortium, Frans P. M. Cremers, Susanne Roosing, Helger G. Yntema, Erik de Vrieze, Ronny Derks, Alexander Hoischen, Sjoert A. H. Pegge, Kornelia Neveling, Ronald J. E. Pennings, Hannie Kremer

Hum Genet. 2022; 141(3-4): 465–484. Published online 2021 Aug 19. doi: 10.1007/s00439-021-02336-6

Correction in:: Hum Genet. 2022; 141(3-4): 991.

PMCID:: PMC9035008

Abstract Article PDF–1.6M

Select item 899498019.

Progressive choreodystonia in X‐linked hyper‐IgM immunodeficiency: a rare but recurrent presentation

Matej Škorvánek, Robert Jech, Juliane Winkelmann, Michael Zech

Ann Clin Transl Neurol. 2022 Apr; 9(4): 577–581. Published online 2022 Mar 10. doi: 10.1002/acn3.51538

PMCID:: PMC8994980

Abstract Article PDF–213K

Select item 893007820.

Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor κB kinase alpha (IKKα)

Wayne Bainter, Vassilios Lougaris, Jacqueline G. Wallace, Yousef Badran, Rodrigo Hoyos-Bachiloglu, Zachary Peters, Hazel Wilkie, Mrinmoy Das, Erin Janssen, Abdallah Beano, Khaoula Ben Farhat, Christy Kam, Luisa Bercich, Paolo Incardona, Vincenzo Villanacci, Maria Pia Bondioni, Antonella Meini, Manuela Baronio, Phammela Abarzua, Silvia Parolini, Giovanna Tabellini, Stefano Maio, Birgitta Schmidt, Jeffrey D. Goldsmith, George Murphy, Georg Hollander, Alessandro Plebani, Janet Chou, Raif S. Geha

Sci Immunol. Author manuscript; available in PMC 2022 Mar 17.

Published in final edited form as: Sci Immunol. 2021 Sep 17; 6(63): eabf6723. Published online 2021 Sep 17. doi: 10.1126/sciimmunol.abf6723

PMCID:: PMC8930078

Abstract Article PDF–3.5M

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