Results 31 to 40 of about 167,593 (141)

Clinical and Immunological Features of Human BCL10 Deficiency

Frontiers in Immunology, 2021
The CARD-BCL10-MALT1 (CBM) complex is critical for the proper assembly of human immune responses. The clinical and immunological consequences of deficiencies in some of its components such as CARD9, CARD11, and MALT1 have been elucidated in detail ...
Blanca Garcia-Solis, Blanca Garcia-Solis, Blanca Garcia-Solis, Ana Van Den Rym, Ana Van Den Rym, Ana Van Den Rym, Jareb J. Pérez-Caraballo, Jareb J. Pérez-Caraballo, Abdulwahab Al–Ayoubi, Anas M. Alazami, Lazaro Lorenzo, Carolina Cubillos-Zapata, Carolina Cubillos-Zapata, Eduardo López-Collazo, Antonio Pérez-Martínez, Antonio Pérez-Martínez, Luis M. Allende, Janet Markle, Janet Markle, Miguel Fernández-Arquero, Miguel Fernández-Arquero, Silvia Sánchez-Ramón, Silvia Sánchez-Ramón, Maria J. Recio, Maria J. Recio, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Reem Mohammed, Reem Mohammed, Rubén Martinez-Barricarte, Rubén Martinez-Barricarte, Rebeca Pérez de Diego, Rebeca Pérez de Diego, Rebeca Pérez de Diego   +35 more
doaj   +1 more source

A 30-Year Prospective Follow-Up Study Reveals Risk Factors for Early Death in Cartilage-Hair Hypoplasia

Frontiers in Immunology, 2019
Cartilage-hair hypoplasia (CHH) is a skeletal dysplasia with combined immunodeficiency, variable clinical course and increased risk of malignancy.
Svetlana Vakkilainen, Svetlana Vakkilainen, Svetlana Vakkilainen, Mervi Taskinen, Paula Klemetti, Eero Pukkala, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie   +10 more
doaj   +1 more source

Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers

Frontiers in Immunology, 2018
Background: Cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) is a negative immune regulator on the surface of T cells. In humans, heterozygous germline mutations in CTLA4 can cause an immune dysregulation syndrome.
David Egg, Charlotte Schwab, Annemarie Gabrysch, Peter D. Arkwright, Edmund Cheesman, Lisa Giulino-Roth, Olaf Neth, Scott Snapper, Satoshi Okada, Michel Moutschen, Philippe Delvenne, Ann-Christin Pecher, Daniel Wolff, Yae-Jean Kim, Suranjith Seneviratne, Kyoung-Mee Kim, Ji-Man Kang, Samar Ojaimi, Catriona McLean, Klaus Warnatz, Maximilian Seidl, Bodo Grimbacher   +21 more
doaj   +1 more source

Genetics of severe combined immunodeficiency

Genes and Diseases, 2020
Severe Combined Immunodeficiency (SCID) is an inherited group of rare, life-threatening disorders due to the defect in T cell development and function.
Rajni Kumrah, Pandiarajan Vignesh, Pratap Patra, Ankita Singh, Gummadi Anjani, Poonam Saini, Madhubala Sharma, Anit Kaur, Amit Rawat   +8 more
doaj   +1 more source

Long-term outcome of bone marrow transplantation in NIK deficiency: non-redundant role of non-canonical NF-κB signaling in thymic reconstitution and secondary lymphoid organ development

Frontiers in Immunology
IntroductionBiallelic mutations in MAP3K14, encoding NF-κB-inducing kinase (NIK), disrupt non-canonical NF-κB signaling and lead to a rare inborn error of immunity marked by impaired lymphoid organ development, defective lymphocyte maturation, and ...
Sevgi Köstel Bal, Sevgi Köstel Bal, Şule Haskoloğlu, Bernhard Ransmayr, Bernhard Ransmayr, Selin Sevinç, Candan İslamoğlu, Kübra Baskın, Nazlı Deveci, Berna Savaş, Suat Fitoz, Alphan Küpesiz, Tanıl Kendirli, Kaan Boztug, Kaan Boztug, Kaan Boztug, Figen Doğu, Kamile Aydan İkincioğulları   +17 more
doaj   +1 more source

Late-Onset Antibody Deficiency Due to Monoallelic Alterations in NFKB1

Frontiers in Immunology, 2019
Adult-onset primary immunodeficiency is characterized by recurrent infections, hypogammaglobulinemia, and poor antibody response to vaccines. In this study, we have analyzed targeted gene panel sequencing results of 270 patients diagnosed with antibody ...
Claudia Schröder, Claudia Schröder, Georgios Sogkas, Manfred Fliegauf, Manfred Fliegauf, Thilo Dörk, Di Liu, Leif G. Hanitsch, Sophie Steiner, Carmen Scheibenbogen, Roland Jacobs, Bodo Grimbacher, Bodo Grimbacher, Bodo Grimbacher, Bodo Grimbacher, Reinhold E. Schmidt, Reinhold E. Schmidt, Reinhold E. Schmidt, Reinhold E. Schmidt, Faranaz Atschekzei, Faranaz Atschekzei   +20 more
doaj   +1 more source

X-linked SCID with a rare mutation

Allergy, Asthma & Clinical Immunology, 2021
Background Severe combined immunodeficiency (SCID) is a group of relatively rare primary immunodeficiency disorders (PIDs), characterized by disturbed development of T cells and B cells, caused by several genetic mutations that bring on different ...
Fatemeh Sadat Mahdavi, Mohammad Keramatipour, Sarina Ansari, Samin Sharafian, Arezou Karamzade, Marzieh Tavakol   +5 more
doaj   +1 more source

Phenotypic spectrum in a family with a novel RAC2 p.I21S dominant‐activating mutation

Clinical & Translational Immunology
Objectives Dominant‐activating (DA) lesions in RAC2 have been reported in 18 individuals to date. Some have required haematopoietic stem cell transplantation (HSCT) for their (severe) combined immunodeficiency syndrome phenotype.
Louisa Ashby, Lydia Chan, Christine Winterbourn, See‐Tarn Woon, Paula Keating, Raoul Heller, Rohan Ameratunga, Ignatius Chua, Kuang‐Chih Hsiao   +8 more
doaj   +1 more source

Interleukin-2-Inducible T-Cell Kinase Deficiency—New Patients, New Insight?

Frontiers in Immunology, 2018
Patients with primary immunodeficiency can be prone to severe Epstein–Barr virus (EBV) associated immune dysregulation. Individuals with mutations in the interleukin-2-inducible T-cell kinase (ITK) gene experience Hodgkin and non-Hodgkin lymphoma, EBV ...
Sujal Ghosh, Ingo Drexler, Sanil Bhatia, Heiko Adler, Heiko Adler, Heiko Adler, Andrew R. Gennery, Arndt Borkhardt   +7 more
doaj   +1 more source

A Novel CARMIL2 Immunodeficiency Identified in a Subset of Cavalier King Charles Spaniels with Pneumocystis and Bordetella Pneumonia

Journal of Fungi
Pet dogs are a valuable natural animal model for studying relationships between primary immunodeficiencies and susceptibility to Pneumocystis and other opportunistic respiratory pathogens.
Emily L. Coffey, Liang Ma, Ousmane H. Cissé, Joseph A. Kovacs, Katie M. Minor, Antti Sukura, Patrizia Danesi, Steven G. Friedenberg, Jonah N. Cullen, Christiane Weissenbacher-Lang, Julie C. Nadeau, Amber M. Graham, Martin N. Granick, Natalie K. Branson, Kyle C. Branson, Barbara Blasi, Casandra M. Jacobs, Eva Furrow   +17 more
doaj   +1 more source