Article
Immunology
Nezihe Koeker, Ihsan Deveci, Karin van Leeuwen, Sinan Akbayram, Dirk Roos, Taco W. Kuijpers, Mustafa Yavuz Koker
Summary: This study reports on two families with clinical features of LAD-III, identifying two novel mutations in the FERMT3 gene. The findings have important implications for understanding the pathogenesis of LAD-III.
JOURNAL OF CLINICAL IMMUNOLOGY
(2023)
Article
Immunology
Mehmet Halil Celiksoy, Mustafa Yavuz Koker, Alper Gezdirici, Sevil Ozsoy, Baris Malbora, Songul Gungor
Summary: Leukocyte adhesion deficiency is a rare primary immunodeficiency that has been categorized into different types, with clinical features including recurrent bacterial and fungal infections. Flow cytometry is a useful tool for rapid diagnosis of the disease, and CD18 expression levels are also associated with the severity of the disease in patients.
IMMUNOLOGIC RESEARCH
(2021)
Article
Dermatology
Aleksandra Opalinska, Adrian Burdacki, Konrad Kwasniak, Katarzyna Pogoda, Jacek Tabarkiewicz, Adam Reich
Summary: This article discusses the medical history and treatment experience of an anonymous patient diagnosed with LAD-1 and PG during pregnancy and the COVID-19 pandemic in a foreign country. The patient's dermatologists, immunologist, and diagnostician provide information on the epidemiology, genetics, diagnosis, morphologic manifestations, treatment, and prognosis in LAD-1. The diagnostic and therapeutic process of the patient is discussed in the latter part of the paper.
DERMATOLOGY AND THERAPY
(2021)
Article
Immunology
Serife Erdem, Sule Haskologlu, Yesim Haliloglu, Huriye Celikzencir, Elif Arik, Ozlem Keskin, Sevgi Bilgic Eltan, Esra Yucel, Halit Canatan, Huseyin Avcilar, Ebru Yilmaz, Alper Ozcan, Ekrem Unal, Musa Karakukcu, Mehmet Halil Celiksoy, Sara Sebnem Kilic, Ayca Demir, Ferah Genel, Nesrin Gulez, Mustafa Yavuz Koker, Ahmet Oguzhan Ozen, Safa Baris, Ayse Metin, Sukru Nail Guner, Ismail Reisli, Sevgi Keles, Esin Figen Dogu, Kamile Aydan Ikinciogullari, Ahmet Eken
Summary: In this study, we investigated the impact of pathogenic ITGB2 mutations on Th17/Treg differentiation and functions, as well as innate lymphoid cell (ILC) subsets, in 15 Turkish LAD-1 patients and controls. Our findings revealed decreased Treg cell percentages and in vitro-differentiated induced Tregs from naive CD4+ T cells in LAD-1 patients, despite elevated absolute CD4+ cell counts. Elevated serum IL-23 levels and increased production of IL-17A by LAD-1 patient-derived PBMCs were observed. Moreover, higher percentages of CD18-deficient Th17 cells and elevated ILC3 subset were detected in LAD-1 patients. These findings suggest a type 3-skewed immunity and potential contribution to LAD-1-associated autoimmune symptoms.
CLINICAL IMMUNOLOGY
(2023)
Review
Genetics & Heredity
Shawn Tahata, Kimiyo Raymond, Marie Quade, Sara Barnes, Suzanne Boyer, Stacy League, Attila Kumanovics, Roshini Abraham, Eapen Jacob, Prem Menon, Eva Morava
Summary: Leukocyte adhesion deficiency type II is a rare genetic disorder characterized by growth and cognitive impairments, recurrent infections, and peripheral neutrophilia. Some patients may benefit from oral fucose therapy.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Genetics & Heredity
Sajid Malik, Gokhan Nalbant, Moqadsa Noreen, Muhammad Afzal, Aslihan Tolun
Summary: Five members of a consanguineous Pakistani kinship were reported to have the most severe familial tetramelic transverse autopod deficiency, along with some common features of autosomal recessive Robinow syndrome-1 (RRS1). Through gene mapping and analysis, a homozygous 8-nucleotide deletion in the ROR2 gene was identified as a potential cause of the severe autopod reduction anomalies in this particular phenotype.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Biochemistry & Molecular Biology
Sara Morais, Monica Pereira, Catarina Lau, Ana Goncalves, Catarina Monteiro, Marta Goncalves, Jorge Oliveira, Lurdes Moreira, Eugenia Cruz, Rosario Santos, Margarida Lima
Summary: This study reports on a likely pathogenic variant in RASGRP2 in a Portuguese family and discusses its clinical manifestations and laboratory features. The research challenges the previous notion that CalDAG-GEFI deficiency only manifests in homozygous patients and suggests a phenotypic expression, albeit milder, in heterozygous carriers.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biotechnology & Applied Microbiology
Hanan Bloomer, Richard H. Smith, Waleed Hakami, Andre Larochelle
Summary: Ex vivo gene correction of hematopoietic stem and progenitor cells (HSPCs) has shown promising results for treating inherited blood disorders. The novel NHEJ-based CRISPR-Cas9-mediated transgene knockin approach, known as HITI, has demonstrated improved site-specific integration frequencies in non-dividing cells, offering an effective alternative to HDR-based transgene integration in CD34+ HSPCs.
Article
Allergy
Mohammad Reza Fazlollahi, Amir Ali Hamidieh, Leila Moradi, Raheleh Shokouhi Shoormati, Nastaran Sabetkish, Behnaz Esmaeili, Mohsen Badalzadeh, Zahra Alizadeh, Somayeh Shamlou, Masoud Movahedi, Maryam Mahloujirad, Anahita Razaghian, Saba Arshi, Mohammad Gharagozlou, Arash Kalantari, Mohammad Hassan Bemanian, Mojgan Safari, Marzieh Heidarzadeh Arani, Mohammad Nabavi, Nima Parvaneh, Mahnaz Sadeghi-Shabestari, Maryam Behfar, Nasrin Behniafard, Roya Sherkat, Javad Ahmadian Heris, Mansoureh Shariat, Roshanak Radmehr, Massoud Houshmand, Anoshirvan Kazemnejad, Anne Molitor, Raphael Carapito, Seiamak Bahram, Zahra Pourpak, Mostafa Moin
Summary: This study assessed the clinical, laboratory, and genetic findings of 69 LAD-I patients and emphasized the importance of early diagnosis and physicians' awareness of the disease. The results showed that delayed umbilical cord separation and skin ulcers were common clinical symptoms, and genetic analysis identified multiple mutations in the ITGB2 gene.
PEDIATRIC ALLERGY AND IMMUNOLOGY
(2023)
Article
Neurosciences
Shan Wang, Yubing Zeng, Xuejia He, Fan Liu, Pei Pei, Ting Zhang
Summary: Maternal folate deficiency increases the risk of neural tube defects (NTDs), and our study using a mouse model shows that this is potentially due to altered levels of butyrate acid, key crotonyl-CoA-producing enzymes, and lysine crotonylation. Folate deficiency also leads to proteomic changes and ultrastructural changes in mouse embryonic stem cells (mESCs). These findings suggest that folate deficiency may cause NTDs by altering the expression of ACSS2 and protein crotonylation.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2023)
Article
Cell Biology
Lai Wen, Alex Marki, Zhihao Wang, Marco Orecchioni, Jeffrey Makings, Monica Billitti, Erpei Wang, Sujit S. A. Suthahar, Kenneth Kim, William B. Kiosses, Zbigniew Mikulski, Klaus Ley
Summary: This study generated a humanized beta(2) integrin knockin mouse model to study its in vivo activation. The results showed that beta(2) integrins play an important role in leukocyte recruitment and neutrophil adhesion.
Article
Immunology
Ismail Yaz, Begum Ozbek, Hacer Neslihan Bildik, Cagman Tan, Sevil Oskay Halacli, Elif Soyak Aytekin, Saliha Esenboga, Sukru Cekic, Sara Sebnem Kilic, Ozlem Keskin, Karin Leeuwen, Dirk Roos, Deniz Cagdas, Ilhan Tezcan
Summary: Leukocyte adhesion deficiency type I is a rare immunodeficiency disorder caused by mutations in the ITGB2 gene. Patients often have early diagnosis and consanguineous parents. Clinical features include delayed cord separation and leukocytosis. Genetic evaluation reveals various ITGB2 gene variants, with some patients undergoing hematopoietic stem cell transplantation.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY
(2021)
Article
Biotechnology & Applied Microbiology
Ya-Nan Hu, Yu-Mian Gan, Yan-Ping Zhang, Dan-Dan Ruan, Yao-Bin Zhu, Xin-Fu Lin, Zhu-Ting Fang, Li-Sheng Liao, Fa-Qiang Tang, Jie-Wei Luo
Summary: A novel F7 compound heterozygous variant was identified in a family with hematuria, shedding light on the FVIID-dependent mechanism. Functional studies showed decreased FVII activity caused by the variants, leading to severe coagulation disorder.
JOURNAL OF GENE MEDICINE
(2022)
Article
Endocrinology & Metabolism
Safeer Ahmad, Muhammad Zeeshan Ali, Sumra Wajid Abbasi, Safdar Abbas, Iftikhar Ahmed, Shakil Abbas, Shoaib Nawaz, Mubarak Ziab, Ikhlak Ahmed, Khalid A. Fakhro, Muzammil Ahmad Khan, Ammira Al-Shabeeb Akil
Summary: This study identified a pathogenic mutation GHRHR p.Glu72* that disrupts growth hormone signaling and causes IGHD type IV. The genotype-phenotype correlation was established through clinical and molecular biological studies, which may help in early detection and better therapeutic intervention.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Immunology
Yoji Sasahara, Taizo Wada, Tomohiro Morio
Summary: Patients with classical Wiskott-Aldrich syndrome (WAS) and leukocyte adhesion deficiency (LAD) type 1 showed lower levels of Th1 and Th2 cytokine production following exposure to antigen-presenting cells, with distinct clinical symptoms associated with each disease.
CLINICAL IMMUNOLOGY
(2022)
Article
Immunology
Robert A. Campbell, Zechariah Franks, Anish Bhatnagar, Jesse W. Rowley, Bhanu K. Manne, Mark A. Supiano, Hansjorg Schwertz, Andrew S. Weyrich, Matthew T. Rondina
JOURNAL OF IMMUNOLOGY
(2018)
Article
Hematology
H. Schwertz, J. W. Rowley, G. A. Zimmerman, A. S. Weyrich, M. T. Rondina
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2017)
Article
Hematology
Trevor P. Fidler, Jesse W. Rowley, Claudia Araujo, Luc H. Boudreau, Alex Marti, Rhonda Souvenir, Kali Dale, Eric Boilard, Andrew S. Weyrich, E. Dale Abel
THROMBOSIS AND HAEMOSTASIS
(2017)
Article
Hematology
Hansjorg Schwertz, Jesse W. Rowley, Gerald G. Schumann, Ulrike Thorack, Robert A. Campbell, Bhanu Kanth Manne, Guy A. Zimmerman, Andrew S. Weyrich, Matthew T. Rondina
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2018)
Article
Hematology
B. K. Manne, P. Muenzer, R. Badolia, B. Walker-Allgaier, R. A. Campbell, E. Middleton, A. S. Weyrich, S. P. Kunapuli, O. Borst, M. T. Rondina
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2018)
Article
Multidisciplinary Sciences
Emersom C. Mesquita, Eugenio D. Hottz, Rodrigo T. Amancio, Alan B. Carneiro, Lohanna Palhinha, Lara E. Coelho, Beatriz Grinsztejn, Guy A. Zimmerman, Matthew T. Rondina, Andrew S. Weyrich, Patricia T. Bozza, Fernando A. Bozza
SCIENTIFIC REPORTS
(2018)
Article
Clinical Neurology
Helena L. Denis, Jerome Lamontagne-Proulx, Isabelle St-Amour, Sarah L. Mason, Jesse W. Rowley, Nathalie Cloutier, Marie-Eve Tremblay, Antony T. Vincent, Peter V. Gould, Sylvain Chouinard, Andrew S. Weyrich, Matthew T. Rondina, Roger A. Barker, Eric Boilard, Francesca Cicchetti
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2019)
Article
Hematology
Indranil Basak, Seema Bhatlekar, Bhanu K. Manne, Micelle Stoller, Sarah Hugo, X. Kong, L. Ma, Matthew T. Rondina, Andrew S. Weyrich, Leonard C. Edelstein, Paul F. Bray
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2019)
Article
Hematology
Robert A. Campbell, Hansjorg Schwertz, Eugenio D. Hottz, Jesse W. Rowley, Bhanu Kanth Manne, A. Valance Washington, Robert Hunter-Mellado, Neal D. Tolley, Miles Christensen, Alicia S. Eustes, Emilie Montenont, Seema Bhatlekar, Cassandra H. Ventrone, Beth D. Kirkpatrick, Kristen K. Pierce, Stephen S. Whitehead, Sean A. Diehl, Paul F. Bray, Guy A. Zimmerman, Yasuhiro Kosaka, Patricia T. Bozza, Fernando A. Bozza, Andrew S. Weyrich, Matthew T. Rondina
Article
Endocrinology & Metabolism
Trevor P. Fidler, Alex Marti, Katelyn Gerth, Elizabeth A. Middleton, Robert A. Campbell, Matthew T. Rondina, Andrew S. Weyrich, E. Dale Abel
Article
Biology
Pierre Cunin, Rim Bouslama, Kellie R. Machlus, Marta Martinez-Bonet, Pui Y. Lee, Alexandra Wactor, Nathan Nelson-Maney, Allyn Morris, Li Guo, Andrew Weyrich, Martha Sola-Visner, Eric Boilard, Joseph E. Italiano, Peter A. Nigrovic
Article
Hematology
Elizabeth A. Middleton, Jesse W. Rowley, Robert A. Campbell, Colin K. Grissom, Samuel M. Brown, Sarah J. Beesley, Hansjorg Schwertz, Yasuhiro Kosaka, Bhanu K. Manne, Krystin Krauel, Neal D. Tolley, Alicia S. Eustes, Li Guo, Robert Paine, Estelle S. Harris, Guy A. Zimmerman, Andrew S. Weyrich, Matthew T. Rondina
Article
Hematology
Robert A. Campbell, Adriana Vieira-de-Abreu, Jesse W. Rowley, Zechariah G. Franks, Bhanu Kanth Manne, Matthew T. Rondina, Larry W. Kraiss, Jennifer J. Majersik, Guy A. Zimmerman, Andrew S. Weyrich
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2017)
Article
Hematology
Trevor P. Fidler, Elizabeth A. Middleton, Jesse W. Rowley, Luc H. Boudreau, Robert A. Campbell, Rhonda Souvenir, Trevor Funari, Nicolas Tessandier, Eric Boilard, Andrew S. Weyrich, E. Dale Abel
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2017)
Article
Hematology
James V. Michael, Jeremy G. T. Wurtzel, Guang Fen Mao, A. Koneti Rao, Mikhail A. Kolpakov, Abdelkarim Sabri, Nicholas E. Hoffman, Sudarsan Rajan, Dhanendra Tomar, Muniswamy Madesh, Marvin T. Nieman, Johnny Yu, Leonard C. Edelstein, Jesse W. Rowley, Andrew S. Weyrich, Lawrence E. Goldfinger
