Article
Hematology
Kathleen Jevtich, Susan Price, Morgan Similuk, Elaine Kulm, Jia Yan, Michael Setzer, Leila Jamal, Luis M. Franco, Rajarshi Ghosh, Magdalena Walkiewicz, V. Koneti Rao
Summary: Autoimmune lymphoproliferative syndrome (ALPS) is a disease characterized by lymphadenopathy, splenomegaly, cytopenias, and other autoimmune manifestations. ALPS is caused by defects in FAS-mediated apoptosis. This study found that copy number variant (CNV) analysis can provide a molecular diagnosis and appropriate treatment for ALPS.
Article
Rheumatology
Leonardo Oliveira Mendonca, Caterina Matucci-Cerinic, Paola Terranova, Federica Casabona, Francesca Bovis, Roberta Caorsi, Francesca Fioredda, Elena Palmisani, Alice Grossi, Daniela Guardo, Marta Bustaffa, Stefano Volpi, Isabella Ceccherini, Angelo Ravelli, Carlo Dufour, Maurizio Miano, Marco Gattorno
Summary: The extended panel of lymphocyte subsets, in combination with Oliveira's diagnostic criteria, is useful for the identification of autoimmune lymphoproliferative syndrome (ALPS) in children referred to a paediatric rheumatology centre. TCR alpha beta(+)B220(+) lymphocytes should be included in the diagnostic work-up of patients with suspected autoimmune or autoinflammatory conditions, as they provide important support in the early diagnosis of ALPS.
Article
Allergy
Maria Elena Maccari, Pascal Schneider, Cristian Roberto Smulski, Andrea Meinhardt, Fernando Pinto, Luis Ignacio Gonzalez-Granado, Catharina Schuetz, Mauricio Pablo Sica, Miriam Gross, Ilka Fuchs, Patrick Kury, Maximilian Heeg, Tatjana Vocat, Laure Willen, Caroline Thomas, Regina Huehn, Aude Magerus, Myriam Lorenz, Klaus Schwarz, Frederic Rieux-Laucat, Stephan Ehl, Anne Rensing-Ehl
Summary: Heterozygous loss-of-function mutations in FASLG are better tolerated than in FAS, and usually do not result in expanded double-negative T cells (DNT) and elevated serum vitamin B12 levels, which are characteristic of autoimmune-lymphoproliferative syndrome (ALPS).
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2023)
Review
Allergy
Nasim Hafezi, Majid Zaki-Dizaji, Matineh Nirouei, Gelayol Asadi, Niusha Sharifinejad, Mahnaz Jamee, Seyed Erfan Rasouli, Haleh Hamedifar, Araz Sabzevari, Zahra Chavoshzadeh, Reza Yazdani, Hassan Abolhassani, Asghar Aghamohammadi, Gholamreza Azizi
Summary: A systematic review on patients with ALPS and ALPS-like syndrome revealed that splenomegaly, autoimmune cytopenias, and lymphadenopathy were the most common clinical presentations in both groups. ALPS-like patients had significantly higher rates of respiratory tract infections compared to ALPS patients. Additionally, immunological analysis showed lower levels of IgA, IgG, and lymphocyte count in ALPS-like patients compared to ALPS patients.
PEDIATRIC ALLERGY AND IMMUNOLOGY
(2021)
Article
Pediatrics
Claudia L. Gaefke, Jonathan Metts, Donya Imanirad, Daime Nieves, Paola Terranova, Gianluca Dell'Orso, Eleonora Gambineri, Maurizio Miano, Richard F. Lockey, Jolan Eszter Walter, Emma Westermann-Clark
Summary: ALPS is a disease with variable penetrance caused by mutations in the FAS gene, which can present with various symptoms. Prompt recognition and targeted therapy based on genetic testing are crucial for optimal management. A previously unreported FAS gene variant was identified in a cohort of ALPS patients, highlighting the importance of genetic testing in subjects with clinical features of the disease.
FRONTIERS IN PEDIATRICS
(2021)
Article
Immunology
Stefano Giardino, Stefano Volpi, Federica Lucioni, Roberta Caorsi, Jennifer Schneiderman, Abigail Lang, Amer Khojah, Taco Kuijpers, Ionanna Papadatou, Anna Paisiou, Laura Alonso, Ansgar Schulz, Nufar Marcus, Marco Gattorno, Maura Faraci
Summary: This study reported a case series of 7 children with a homozygous mutation in ARPC1B gene who underwent allogeneic-HSCT. Most patients had an early clinical onset, but the clinical course after transplantation was stable in the majority of cases. These findings support the indication of allo-HSCT as a treatment option for this disease.
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Review
Immunology
Robin Jacquot, Maurine Jouret, Mathieu Gerfaud Valentin, Mael Richard, Yvan Jamilloux, Florent Rousset, Jean-Francois Emile, Julien Haroche, Lars Steinmuller, Franck Zekre, Alice Phan, Alexandre Belot, Pascal Seve
Summary: H syndrome is a rare autosomal recessive genetic disorder characterized by various clinical features, including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, hyperglycemia, and fixed joint contractures. This disorder is caused by mutations in the SLC29A3 gene, resulting in abnormal function and proliferation of histiocytes. We reported two cases of H syndrome, one diagnosed in adulthood and the other in childhood, that showed significant improvement after treatment with Tocilizumab.
FRONTIERS IN IMMUNOLOGY
(2023)
Review
Immunology
Mark Ballow, Silvia Sanchez-Ramon, Jolan E. Walter
Summary: Primary immunodeficiencies (PIDs) are genetic immune errors determined at birth, while secondary immunodeficiencies (SIDs) are acquired diseases with decreased immune cell counts. Distinguishing between primary and secondary antibody deficiencies is crucial in the era of immune-modulating biologicals. This article explores the crossovers between SIDs and PIDs, and discusses the challenges in diagnosis and treatment.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Rheumatology
Keith A. Sikora, Kristina Wells, Ertugrul Cagri Bolek, Adrianna Jones, Peter C. Grayson
Summary: The discovery of VEXAS syndrome highlights the relationship between somatic mutations and adult-onset, complex inflammatory diseases. Unlike germline mutations, somatic mutations occur throughout life, are restricted to specific tissue types, and may play a causal role in non-heritable rheumatological diseases. Advances in sequencing technology enable the detection of somatic mutations in various tissue types, providing insights into the relationship between acquired mutations and inflammation in rheumatological diseases.
Article
Biochemistry & Molecular Biology
Dulce Maria Delgadillo, Adriana Ivonne Cespedes-Cruz, Emmanuel Rios-Castro, Maria Guadalupe Rodriguez Maldonado, Mariel Lopez-Nogueda, Miguel Marquez-Gutierrez, Rocio Villalobos-Manzo, Lorena Ramirez-Reyes, Misael Dominguez-Fuentes, Jose Tapia-Ramirez
Summary: Autoimmune lymphoproliferative syndrome (ALPS) is a rare disease that is often misdiagnosed. This study provides further insights into the molecular and proteomic analysis of ALPS by studying peripheral blood mononuclear cells (PBMCs) from two ALPS patients, and highlights potential mechanisms involved in the disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Medicine, General & Internal
Molnar Emese, Kovacs Gabor, Varga Livia, Tasnady Szabolcs, Bors Andras, Tanko Lenke, Csaban Dora, Kapocs Katalin, Zsuzsanna Nemes-Nagy, Andrikovics Hajnalka
Summary: Autoimmune lymphoproliferative syndrome is a rare genetic disorder that affects the immune system, leading to non-malignant lymphoproliferation and autoimmune disorders. The main diagnostic laboratory findings include elevated specific T cell counts, abnormal levels of cytokines, and vitamin deficiency.
Review
Pediatrics
Giorgio Costagliola, Diego G. Peroni, Rita Consolini
Summary: This paper discusses the non-infectious manifestations of patients with inborn errors of immunity (IEI) and highlights the importance of these manifestations in the diagnosis of the disease.
FRONTIERS IN PEDIATRICS
(2022)
Review
Rheumatology
Koushan Kouranloo, Athea Ashley, Sizheng Steven Zhao, Mrinalini Dey
Summary: This systematic review summarizes the respiratory manifestations in patients with VEXAS syndrome. The study found that pulmonary involvement is common in VEXAS patients, but it is unclear whether respiratory symptoms are part of the primary disease or co-existing conditions.
RHEUMATOLOGY INTERNATIONAL
(2023)
Review
Immunology
Fang Liang, Weixiao Qin, Yilan Zeng, Dan Wang
Summary: Autoimmune diseases and autoinflammatory diseases are two types of immune system disorders, and pyroptosis plays a crucial role in these diseases. Gasdermins, a pore-forming protein mainly expressed in immune cells, gastrointestinal tract, and skin, are considered as the executors of pyroptosis and have various functions and pathological effects such as pro-inflammatory responses, immune activation, and tumor mediation. Recent studies have demonstrated the significant role of gasdermins in autoimmune diseases, autoinflammatory diseases, and immune-related neoplastic diseases, making them potential therapeutic targets for immune disorders.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Pediatrics
Fawzia M. M. Elgharbawy, Mohammed Yousuf Karim, Dina Sameh Soliman, Amel Siddik Hassan, Anoop Sudarsanan, Ashraf Gad
Summary: We report a case of a newborn boy with a novel germline homozygous variant in the FAS gene, associated with a severe clinical phenotype of ALPS-FAS. Treatment with sirolimus significantly reduced DNTs and substantially relieved the patient's clinical symptoms.
FRONTIERS IN PEDIATRICS
(2023)
