BTKbase: the mutation database for X-linked agammaglobulinemia

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Items 101–196 of 196

1. Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton’s tyrosine kinase (BTK) gene mutations
   Shanshan Gao, Shuang Hu, Huikun Duan, Li Wang, Xiangdong Kong · 2020 · BMC Medical Genetics
2. Molecular alterations in the integrated diagnosis of pediatric glial and glioneuronal tumors: A single center experience
   Sandra Lorena Colli, Nazarena Cardoso, Carla Antonella Massone, María Cores, Mercedes García Lombardi, Elena Noemí De Matteo, Mario Alejandro Lorenzetti, María Victoria Preciado · 2022 · PLoS ONE
3. BTKbase, Bruton Tyrosine Kinase Variant Database in X-Linked Agammaglobulinemia: Looking Back and Ahead
   Gerard C. P. Schaafsma, Jouni Väliaho, Qing Wang, Anna Berglöf, Rula Zain, C. I. Edvard Smith, Mauno Vihinen · 2023 · Human Mutation
4. PON-All: Amino Acid Substitution Tolerance Predictor for All Organisms
   Yang Yang, Aibin Shao, Mauno Vihinen · 2022 · Frontiers in Molecular Biosciences
5. Diagnosis and evaluation of primary panhypogammaglobulinemia: A molecular and genetic challenge
   Maaz S. Mohiuddin, Jordan K. Abbott, Nicholas Hubbard, Troy R. Torgerson, Hans D. Ochs, Erwin W. Gelfand · 2013 · Journal of Allergy and Clinical Immunology
6. Impaired polysaccharide responsiveness without agammaglobulinaemia in three patients with hypomorphic mutations in Bruton Tyrosine Kinase—No detection by newborn screening for primary immunodeficiencies
   Renate Krüger, Ulrich Baumann, Stephan Borte, Uwe Kölsch, Myriam Ricarda Lorenz, Baerbel Keller, Ina Harder, Klaus Warnatz, Stephan R. Ehl, Klaus Schwarz et al. · 2019 · Scandinavian Journal of Immunology
7. Are Patients with X-Linked Agammaglobulinemia at Increased Risk of Developing Acute Lymphoblastic Leukemia?
   Mary Ellen Conley · 2015 · Journal of Clinical Immunology
8. SH2 Domain Structures and Interactions
   Piraveen Gopalasingam, Lee Quill, Mark Jeeves, Michael Overduin · 2015 · Springer eBooks
9. Systematics for types and effects of DNA variations
   Mauno Vihinen · 2018 · BMC Genomics
10. Consequences of two naturally occurring missense mutations in the structure and function of Bruton agammaglobulinemia tyrosine kinase
    Alexander Vargas‐Hernández, Gabriela López‐Herrera, José Luis Maravillas‐Montero, Felipe Vences‐Catalán, Dolores Mogica‐Martínez, Arturo Rojo‐Domínguez, Francisco Javier Espinosa-Rosales, Leopoldo Santos‐Argumedo · 2012 · IUBMB Life
11. Management of primary antibody deficiency syndromes
    Vincent Robert Bonagura, Blanka M. Kaplan, Artemio M. Jongco · 2016 · Annals of Allergy Asthma & Immunology
12. Agammaglobulinemia
    Alessandro Plebani, Vassilios Lougaris · 2014 · Elsevier eBooks
13. Predominantly antibody deficiencies
    Taher Cheraghi, Arash Kalantari, Mahnaz Sadeghi‐Shabestari, Hassan Abolhassani, Hermann Eibel, Lennart L G Hammarström, Hirokazu Kanegane, Anne Durandy, Alessandro Plebani, Charlotte Cunningham‐Rundles et al. · 2021 · Elsevier eBooks
14. Genetic screening of male patients with primary hypogammaglobulinemia can guide diagnosis and clinical management
    Nicolas Vince, Gaël Mouillot, Marion Malphettes, Sophie Limou, David Boutboul, Angélique Guignet, Véronique Bertrand, Philippe Pellet, Pierre‐Antoine Gourraud, Patrice Debré et al. · 2018 · Human Immunology
15. A novelBTKgene mutation, c.82delC (p.Arg28 Alafs*5), in a Korean family with X-linked agammaglobulinemia
    Jeongeun Lee, Minhee Rhee, Taek Ki Min, Hae In Bang, Mi‐Ae Jang, Eun‐Suk Kang, Hee‐Jin Kim, Hyeon‐Jong Yang, Bok Yang Pyun · 2016 · Korean Journal of Pediatrics
16. Hematopoietic stem cell gene therapy for the treatment of X-linked agammaglobulinemia
    Christopher R. Luthers, Annika Mittelhauser, A. Colamartino, Wu Xiaomeng, Samuel Cirigliano, Joseph D. Long, Julie M. Sanchez, Zulema G. Romero, Donald B. Kohn · 2025 · Molecular Therapy — Methods & Clinical Development
17. Clinical, immunological and genomic characteristics of children with X-linked agammaglobulinemia from Kerala, South India
    Geeta Madathil Govindaraj, Abhinav K. Jain, Athulya Edavazhippurath, Rahul C. Bhoyar, Dhananjayan Dhanasooraj, Anushree Mishra, Vishu Gupta, Mohandas Nair, P. M. Shiny, Ramya Uppuluri et al. · 2022 · Human Immunology
18. A new mutation that predicted a drastic alteration of the BTK protein function
    Anne Debost‐Legrand, Guillaume Legrand, Gaelle Moulillot, Christine Francannet, Bertrand Bocly, Ioannis Theodoroub, Catherine Paillard · 2013 · Gene
19. Genetic Variation in Bruton Tyrosine Kinase
    Gerard C. P. Schaafsma, Mauno Vihinen · 2015 · Rare diseases of the immune system
20. Whole genome sequencing identifies novel structural variant in a large Indian family affected with X-linked agammaglobulinemia
    Abhinav K. Jain, Geeta Madathil Govindaraj, Athulya Edavazhippurath, Nabeel Valappil Faisal, Rahul C. Bhoyar, Vishu Gupta, Ramya Uppuluri, Shiny Padinjarayil Manakkad, Atul Kashyap, Anoop Kumar et al. · 2021 · PLoS ONE
21. Prevalence of BTK mutations in male Algerian patterns with agammaglobulinemia and severe B cell lymphopenia
    Soraya Boushaki, Azzeddine Tahiat, Yanis Meddour, Koon Wing Chan, Samia Chaib, Nafissa Keltoum Benhalla, Leila Smati, Abdellatif Bensenouci, YL Lau, Frédérique Magdinier et al. · 2015 · Clinical Immunology
22. Identification of Two Novel Mutations in Patients With X-Linked Primary Immunodeficiencies
    Li Yu, Xike Wang, Yuchuan Wang, Jian Wang · 2014 · Fetal and Pediatric Pathology
23. Immunodeficiency, Primary: Affecting the Adaptive Immune System
    Mauno Vihinen · 2015 · Encyclopedia of Life Sciences
24. Curation of gene–disease relationships in primary antibody deficiencies using the ClinGen validation framework
    Alejandro Nieto-Patlán, Justyne E. Ross, Shruthi Mohan, Michelle K. Paczosa, Rasha Soliman, Olga F. Sarmento, Ermal Aliu, Lavvina Thiyagarajan, Anita Chandra, Capucine Pïcard et al. · 2025 · Journal of Allergy and Clinical Immunology
25. Bruton’s Tyrosine Kinase: A Potential Novel Target for Neurological Disorders
    D Das, A Ghosh, Dario Greco, Danica Michaličková, Ondřej Slanař · 2025 · Physiological Research
26. NGS data analysis for molecular diagnosis of Inborn Errors of Immunity
    XT Yang, WL Yang, YL Lau · 2024 · Seminars in Immunology
27. PON‐P and PON‐P2 predictor performance in CAGI challenges: Lessons learned
    Abhishek Niroula, Mauno Vihinen · 2017 · Human Mutation
28. Identification of four novel mutations in BTK from six Chinese families with X-linked agammaglobulinemia
    Qimin Zhou, Yanling Teng, Jianyan Pan, Qingxin Shi, Yingdi Liu, Fangfang Zhang, Desheng Liang, Zhuo Li, Lingqian Wu · 2022 · Clinica Chimica Acta
29. PON-Fold: Prediction of Substitutions Affecting Protein Folding Rate
    Yang Yang, Zhang Chong, Mauno Vihinen · 2023 · International Journal of Molecular Sciences
30. Manifestations of Immunodeficiency in the GI Tract
    Elizabeth I. Harris, Kay M. Washington · 2009 · Elsevier eBooks
31. Primary antibody deficiencies in Turkey: molecular and clinical aspects
    Sinem Fırtına, Yuk Yin Ng, Özden Hatırnaz Ng, Ayça Aslan Kıykım, Esra Yücel, Manolya Kara, Elif Karakoç-Aydıner, Serdar Nepesov, Yıldız Çamcıoğlu, Esra Hazar Sayar et al. · 2021 · Immunologic Research
32. Inactivating BTK mutations in large B‐cell lymphoma in a real‐world cohort: Strong correlation with BCL2 translocation
    Lone Schejbel, Marie Fredslund Breinholt, Anne Ortved Gang, Torsten Holm Nielsen, Lars Møller Pedersen, Estrid Vilma Solyom Høgdall, Peter H. Nørgaard · 2022 · eJHaem
33. A novel Bruton’s tyrosine kinase gene (BTK) missense mutation in a Chinese family with X-linked agammaglobulinemia
    Bixia Zheng, Yayuan Zhang, Yu Jin, Haiguo Yu · 2014 · BMC Pediatrics
34. In vitro Correction of a Novel Splicing Alteration in the BTK Gene by Using Antisense Morpholino Oligonucleotides
    Natthakorn Rattanachartnarong, Siraprapa Tongkobpetch, Pantipa Chatchatee, Tassalapa Daengsuwan, Chupong Ittiwut, Kanya Suphapeetiporn, Vorasuk Shotelersuk · 2014 · Archivum Immunologiae et Therapiae Experimentalis
35. Medical immunology: Two-way bridge connecting bench and bedside
    Ger T. Rijkers, Jan G.M.C. Damoiseaux, Herbert Hooijkaas · 2014 · Immunology Letters
36. VariOtator, a Software Tool for Variation Annotation with the Variation Ontology
    Gerard C. P. Schaafsma, Mauno Vihinen · 2016 · Human Mutation
37. Case Report: A Case of X-Linked Agammaglobulinemia With High Serum IgE Levels and Allergic Rhinitis
    Bianca Laura Cinicola, Andrea Uva, Lucia Leonardi, Daniele Moratto, Silvia Clara Giliani, Rita Carsetti, Simona Ferrari, Anna Maria Zicari, Marzia Duse · 2020 · Frontiers in Immunology
38. Monogenic Inborn Errors of Immunity with impaired IgG response to polysaccharide antigens but normal IgG levels and normal IgG response to protein antigens
    Maria Faßhauer, Sarah Svenja Dinges, Olga Staudacher, Mirjam Völler, Anna Stittrich, Horst von Bernuth, Volker Wahn, Renate Krüger · 2024 · Frontiers in Pediatrics
39. Revisiting X-linked agammaglobulinemia
    Hirokazu Kanegane, Kay Tanita, Madoka Nishimura, Dan Tomomasa, Kento Inoue, Toru Kanamori, Akira Nishimura, Hans D. Ochs · 2025 · Journal of Human Immunity
40. Evolutionary relationship between the cysteine and histidine rich domains (CHORDs) and Btk-type zinc fingers
    Gurmeet Kaur, Srikrishna Subramanian · 2018 · Bioinformatics
41. Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with X-linked agammaglobulinemia
    Amit Kumar Rawat, Shamsudheen Karuthedath Vellarikkal, Ankit Verma, Rijith Jayarajan, Anju Gupta, Surjit Singh, Anita Chopra, Rajive Kumar, Vinod Scaria, Sridhar Sivasubbu · 2017 · F1000Research
42. Transient myelodysplastic syndrome in X‐linked agammaglobulinemia with a novel Btk mutation
    Gaurav Narula, Z Currimbhoy · 2008 · Pediatric Blood & Cancer
43. A Case of Fabry's Disease with Congenital Agammaglobulinemia
    Ki-Yeol Lee, Su-Young Jeon, Jin-woo Hong, Sung-Eun Kim, Ki‐Hoon Song, Young-Hun Kim, Ki‐Ho Kim · 2011 · Journal of Korean Medical Science
44. Gastrointestinal and Hepatic Involvement in Immunodeficiencies and Systemic Disease of Childhood
    Chanjuan Shi, Mary Kay Washington · 2014 · Springer eBooks
45. Btk SH2-kinase interface is critical for allosteric kinase activation and its targeting inhibits B-cell neoplasms
    Daniel Duarte, Allan Joaquim Lamontanara, Giuseppina La Sala, Sukyo Jeong, Yoo‐Kyoung Sohn, Alejandro Panjkovich, Sandrine Georgeon, Tim Kükenshöner, María J. Marcaida, Florence Pojer et al. · 2019 · bioRxiv (Cold Spring Harbor Laboratory)
46. Bruton's Tyrosine Kinase Gene Mutations in Turkish Patients with X-Linked Agammaglobulinemia from a Single Center: Novel Mutations in βTK Gene
    Çiğdem Aydoğmuş, Yıldız Çamcıoğlu, Mirjam van der Burg, Haluk Cezmi Çokuğraş, Necla Akçakaya, Jacques J. M. van Dongen · 2013 · Turkiye Klinikleri Journal of Medical Sciences
47. Screening and Characterization of Allosteric Small Molecules Targeting Bruton’s Tyrosine Kinase
    Lauren E. Kueffer, David Yin-wei Lin, Neha Amatya, Joseph Serrenho, Raji E. Joseph, Adam Heath Courtney, Amy Hamilton Andreotti · 2023 · Biochemistry
48. Dysregulation of TLR Signaling-Associated Gene Expression in X-linked Agammaglobulinemia: Implications for Correlations Genotype-Phenotype and Disease Expression
    Marcelo Ananias Teocchi, Thaís de Andrade Eugênio Quinteiro, Lia Furlaneto Marega, Isabella Quinti, Maria Marluce dos Santos Vilela · 2024 · Journal of Innate Immunity
49. B cell repertoire in patients with a novel BTK mutation: expanding the spectrum of atypical X-linked agammaglobulinemia
    Ori Toker, Arnon Broides, Atar Lev, Amos J. Simon, Orli Megged, Oded Shamriz, Yuval Tal, Raz Somech, Yu Nee Lee, Amit Nahum · 2022 · Immunologic Research
50. Evaluation of Accuracy and Applicability of Protein Models: Retrospective Analysis of Biological and Biomedical Predictions
    Sofia Khan, Mauno Vihinen · 2009 · In Silico Biology
51. Bruton's Tyrosine Kinase (Btk)
    Mark E. Schnute, Adrian J. Huang, Eddine Saiah · 2012 · Royal Society of Chemistry eBooks
52. A mutation in the promoter region of BTK causes atypical XLA
    María Bravo García‐Morato, Lucía del Pino Molina, Juan Manuel Torres, Teresa del Rosal, Ana María Méndez-Echevarría, Berta González‐Martínez, Eduardo López‐Granados, Rebeca Rodríguez Pena · 2020 · Heliyon
53. Infectious Complications of Antibody Deficiency
    Elisabeth E. Adderson · 2012 · Elsevier eBooks
54. Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with X-linked agammaglobulinemia
    Amit Kumar Rawat, Shamsudheen Karuthedath Vellarikkal, Ankit Verma, Rijith Jayarajan, Anju Gupta, Surjit Singh, Anita Chopra, Rajive Kumar, Vinod Scaria, Sridhar Sivasubbu · 2016 · F1000Research
55. Novel BTK Mutation in Patient with Late Diagnosis of X-Linked Agammaglobulinemia
    Amanpreet Kalkat, Olivia Humpel, Robert Hostoffer · 2023 · Case Reports in Immunology
56. Diagnóstico molecular de enfermedades de base genética que afectan al sistema inmune
    Mónica Martínez‐Gallo · 2007 · LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas)
57. A Case of Rheumatoid Arthritis in a Patient with Bruton-Type Agammaglobulinemia
    Dong-Jin Park, Sung-Ji Lee, Tae‐Jong Kim, Yong-Wook Park, Eunsin Bae, Eun‐Suk Kang, Shin‐Seok Lee · 2012 · Journal of Rheumatic Diseases
58. Clinical, immunological and genetic characterization of patients with X‐linked agammaglobulinemia in Costa Rica
    Gabriela Ivankovich‐Escoto, Sylvia Danielian, Estela Morera, Elexandra Barboza, Ivannia Atmella, Sandra Silva, Carlos Santamarı́a, Óscar Porras · 2022 · Scandinavian Journal of Immunology
59. Hemizygous BTK Gene Variant Causing X-Linked Agammaglobulinemia in Two Siblings
    Narjes Saheb Sharif‐Askari, Shirin Hafezi, Fatemeh Saheb Sharif‐Askari, Naomi Frommenwiler, Rabih Halwani · 2023 · Journal of Clinical Immunology
60. Bronchiectasis, Low IgG Levels and Lack of Vaccination are Risk Factors for Covid-19 Hospitalization in X-linked Agammaglobulinemia – A Retrospective Multicenter Study
    Caroline Stenlander, Hannes Lindahl, Emelie Wahren-Borgström, Christoph B. Geier, Anna Šedivá, Børre Fevang, Cinzia Milito, Cláudia Varandas, Cristina Roca-Oporto, Federica Pulvirenti et al. · 2025 · Journal of Clinical Immunology
61. Molecular modeling of mutant kinase domain of Btk, a Tec family member, for structure prediction
    Iqbal Hina, Mir Asif, Rani Faryal · 2011 · AFRICAN JOURNAL OF BIOTECHNOLOGY
62. Detection of Pathogenic Mutation Prone Locations from Protein Sequences using Solvent Accessibility Measurements
    Miika J. Ahdesmaki, Janita Thusberg, Heikki J. Huttunen, Mauno Vihinen, Olli P. Yli-Harja · 2007 · IEEE International Workshop on Genomic Signal Processing and Statistics
63. Bruton’s Disease
    Yıldız Çamcıoğlu · 2015 · InTech eBooks
64. B-Cell Defects: From X-linked Recessive to Autosomal Recessive Agammaglobulinemia
    Jerry A. Winkelstein, C.I. Edvard Smith · 2014 · Elsevier eBooks
65. Case report of a novel mutation in Bruton’s tyrosine kinase gene with confirmed agammaglobulinemia and absent B lymphocytes
    Nouf Bedaiwy, Shatha Alhamdi, Wafaa Alsuwairi, Mohammad Alsalamah · 2022 · LymphoSign Journal
66. Agammaglobulinemia
    Alessandro Plebani, Vassilios Lougaris · 2020 · Elsevier eBooks
67. Genetic defects in patients with primary immunodeficiencies in the Republic of Belarus
    M. V. Belevtsev, V. V. Pugacheva, Irina E. Guryanova, Ekaterina A. Polyakova, Alexandr A. Migas, Olga M. Khurs, Svetlana O. Sharapova, Inga S. Sakovich, Svetlana N. Aleshkevich, Yu. S. Zharankova et al. · 2020 · Proceedings of the National Academy of Sciences of Belarus Medical series
68. A case of rare splice-site Bruton's tyrosine kinase mutation with atypical X-linked agammaglobulinemia
    Sanghwa E. Park, Brittanie I Neaves, Karla E. Adams · 2022 · Annals of Allergy Asthma & Immunology
69. Role of Bruton's Tyrosine Kinase (BTK) in the Treatment of Cognitive Impairment in Patients with Multiple Sclerosis
    Elnaz Asadollahzadeh, Zahra Ebadi, Nasim Rezaeimanesh, Abdorreza Naser Moghadasi · 2023 · Preprints.org
70. Tec family kinases : Transcriptional and posttranslational regulation
    Liang Yu · 2009 · Figshare
71. Mutações no gene da tirosina quinase de Bruton (Btk) de pacientes brasileiros com agamaglobulinemia ligada ao X (XLA)
    Vanessa Domingues Ramalho · 2010
72. BTK (Bruton agammaglobulinemia tyrosine kinase)
    Rudi W. Hendriks, Loo PF van · 2011 · Atlas of Genetics and Cytogenetics in Oncology and Haematology
73. Emerging Frontiers in Therapeutics of Diffuse Large B Cell Lymphoma: Epigenetics and B Cell Receptor Signaling
    Soham D. Puvvada, Lisa M. Rimsza · 2013 · Journal of Cancer Therapy
74. Sequence-based molecular diagnosis of X-linked Agammaglobulinemia in South African individuals
    Melanie Joy Leo · 2011 · SUNScholar (Stellenbosch University)
75. Mechanistic insight into the regulation of Tec family kinase activity - substrate selection and conformational preferences
    Qian Xie · 2014 · Iowa State University Digital Repository (Iowa State University)
76. Focus on immunogenetics: diagnosis, molecular genetics, mutations, and diseases
    Mauno Vihinen · 2006 · Human Mutation
77. Immunodeficiencies and Immunome: Diseases and Information Services
    Mauno Vihinen · 2008 · Springer eBooks
78. Defects in B Cell Development
    Isabelle André‐Schmutz, Claudine Schiff · 2016 · Elsevier eBooks
79. Konstitutive Protein-Protein-Interaktionen regulieren die Aktivität der Bruton-Tyrosin-Kinase in B-Zellen
    Wiebke Schulze · 2017
80. B-Cell Development
    JA Di Paolo · 2017 · Elsevier eBooks
81. Damaging BTK Variant Demonstrated by Carrier, Allele-Specific BTK Expression in B Cells and Monocytes
    Mary T. Bausch-Jurken, Mary K. Hintermeyer, Jeffrey E. Woodliff, Shaoying Chen, Amy L. Rymaszewski, James W. Verbsky, John M. Routes · 2019 · Journal of Clinical Immunology
82. Bruton tyrosine kinase in immunodeficiency and in B-cell malignancy
    Qing Wang · 2020 · Figshare
83. Immunodeficiency Disorders
    Rochelle Hirschhorn, Kurt Hirschhorn, Luigi Daniele Notarangelo · 2013 · Elsevier eBooks
84. X-Linked Agammaglobulinemia Case with TH Domain Missense Mutation in Bruton Tyrosine Kinase
    Nourhen Agrebi, Giusy Gentilcore, Jean‐Charles Grivel, Ghroob Alkhayer, Jihad Hassoun, Amel Hassan, Mehdi Adeli, Bernice Lo · 2021 · Journal of Clinical Immunology
85. Immunodeficiency, Primary: Affecting the Adaptive Immune System
    Mauno Vihinen · 2010 · Encyclopedia of Life Sciences
86. Agammaglobulinemia
    Camile Ortega, Vivian Pilar Hernandez-Trujillo · 2021 · Springer eBooks
87. Employing solution NMR for structural interrogation of the Btk SH2 domain to understand its role in kinase activation
    Jacques Lowe · 2023
88. B Cell Development, Function, and Disease
    Edith M. Janssen, Laura I. Rutitzky, Julie A. Di Paolo · 2024 · Elsevier eBooks
89. Gastrointestinal and Hepatic Involvement in Immunodeficiencies and Systemic Disease of Childhood
    Chanjuan Shi, Kay M. Washington · 2024 · Springer eBooks
90. A case of subcutaneous abscess in the corner of the mouth and MRSA infection in an X-linked agammaglobulinemia patient with primary immunodeficiency
    Mikiko Ikehata, Naoki Ikehata, Takashi Yasuda, On Hasegawa, Takashi Ogawa, Daichi Chikazu · 2024 · Japanese Journal of Oral & Maxillofacial Surgery
91. TACI and BTK gene analysis in predominantly antibody deficiencies among the primary immunodeficiency disorder patients in Bangladesh
    Tripty Chakrobortty, Chandan Kumar Roy, Mohammad Imnul Islam, Ismet Niger, Kamrul Laila, Avizit Sarker, Nusrat Akhtar Juyee, Md. Mydul Islam, Fahmida Hoque, Partho Protim Chakrobortty et al. · 2025 · Frontiers in Medicine
92. Molecular regulation of IL-2 inducible T-cell kinase (Itk) and the Tec kinases: A combined experimental and computational study, with emphasis on the N-terminal Pleckstrin Homology domain
    Scott E. Boyken · 2013
93. Additional file 1 of Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton’s tyrosine kinase (BTK) gene mutations
    Shanshan Gao, Hu, Shuang, 会坤 段, Wang, Li, Kong, Xiangdong · 2020 · Figshare
94. Molecular characterization of Agammaglobulinemia, X-linked 1: A case-series from Iran
    Sheyda Khalilian, Mohadeseh Fathi, Nima Parvaneh, Soheila Sadat Alyasin, Abbas Fayezi, Taher Cheraghi, Maziyar Rahimi, Soudeh Ghafouri‐Fard, Mohammad Miryounesi, Mohammad Shahrooei · 2026 · Human Pathology Reports
95. Genetic Heterogeneity of Inborn Errors of Immunity Revealed by Whole-Genome Sequencing: Insights from a Russian Patient Cohort
    Yunna S. Petrusenko, Савин Тихон Валерьевич, Anna V. Sedykh, Nikolay Chekanov, Evgeny I. Klimuk, Yu. V. Ostankova, Raisa Kuznetsova, Anna Chernyshova, Anzhelika Milichkina, Арег А. Тотолян et al. · 2026 · International Journal of Molecular Sciences
96. Novel Approach to the Evaluation of Primary Immunodeficiencies
    Clemens Esche, BERNARD ALLAN COHEN · 2008 · Springer eBooks