Works matching Agammaglobulinemia and genetics

Results: 36

X-linked agammaglobulinemia (XLA): A genetic tyrosine kinase (Btk) disease.

Published in:

BioEssays, 1996, v. 18, n. 10, p. 825, doi. 10.1002/bies.950181009

By:

Mattsson, Pekka T.;
Vihinen, Mauno

Publication type:

Article

Clinical and Genetic Study of X-linked Agammaglobulinemia Patients (The Benefit of Early Diagnosis).

Published in:

Iranian Journal of Allergy, Asthma & Immunology, 2020, v. 19, n. 3, p. 305

By:

Alizadeh, Zahra;
Dashti, Parisa;
Mazinani, Marzieh;
Nourizadeh, Maryam;
Shakerian, Leila;
Tajik, Shaghayegh;
Movahedi, Masoud;
Mamishi, Setareh;
Pourpak, Zahra;
Fazlollahi, Mohammad Reza

Publication type:

Article

Actualización sobre las bases genéticas y perspectivas terapéuticas en la Agammaglobulinemia ligada al X.

Published in:

Revista de Ciencias Médicas de Pinar del Río, 2024, v. 28, n. 1, p. 1

By:

Israel Hernández-Pacheco, Julio;
Alberto Lorenzo-Rodriguez, Michel

Publication type:

Article

Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling.

Published in:

Frontiers in Immunology, 2020, p. 1, doi. 10.3389/fimmu.2020.00046

By:

Rivière, Jacques G.;
Franco-Jarava, Clara;
Martínez-Gallo, Mónica;
Aguiló-Cucurull, Aina;
Blasco-Pérez, Laura;
Paramonov, Ida;
Antolín, María;
Martín-Nalda, Andrea;
Soler-Palacín, Pere;
Colobran, Roger

Publication type:

Article

Clinical, immunological and genetic characterization of patients with X‐linked agammaglobulinemia in Costa Rica.

Published in:

Scandinavian Journal of Immunology, 2023, v. 97, n. 1, p. 1, doi. 10.1111/sji.13237

By:

Ivankovich‐Escoto, Gabriela;
Danielian, Sylvia;
Morera, Estela;
Barboza, Elexandra;
Atmella, Ivannia;
Silva, Sandra;
Santamaría, Carlos;
Porras, Oscar

Publication type:

Article

Clinical and genetic features of the patients with X‐Linked agammaglobulinemia from Turkey: Single‐centre experience.

Published in:

Scandinavian Journal of Immunology, 2018, v. 87, n. 3, p. 1, doi. 10.1111/sji.12647

By:

Esenboga, S.;
Cagdas, D.;
Ozgur, T. T.;
Gur Cetinkaya, P.;
Turkdemir, L. M.;
Sanal, O.;
VanDerBurg, M.;
Tezcan, I.

Publication type:

Article

Clinical and genetic findings in two siblings with X-Linked agammaglobulinemia and bronchiolitis obliterans: a case report.

Published in:

2022

By:

Francisco Junior, Ronaldo da Silva;
de Morais, Guilherme Loss;
de Carvalho, Joseane Biso;
dos Santos Ferreira, Cristina;
Gerber, Alexandra Lehmkuhl;
de C Guimarães, Ana Paula;
Amendola, Flávia Anisio;
Pinto-Mariz, Fernanda;
de Vasconcelos, Zilton Farias Meira;
Goudouris, Ekaterini Simões;
de Vasconcelos, Ana Tereza Ribeiro

Publication type:

journal article

5例儿童X连锁无丙种球蛋白血症报告及基因特征分析.

Published in:

Journal of Modern Laboratory Medicine, 2018, v. 33, n. 3, p. 65, doi. 10.3969/j.issn.1671-7414.2018.03.017

By:

丁星梅;
张冲;
林毅;
张秋业

Publication type:

Article

Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India.

Published in:

Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.612323

By:

Rawat, Amit;
Jindal, Ankur Kumar;
Suri, Deepti;
Vignesh, Pandiarajan;
Gupta, Anju;
Saikia, Biman;
Minz, Ranjana W.;
Banday, Aaqib Zaffar;
Tyagi, Rahul;
Arora, Kanika;
Joshi, Vibhu;
Mondal, Sanjib;
Shandilya, Jitendra Kumar;
Sharma, Madhubala;
Desai, Mukesh;
Taur, Prasad;
Pandrowala, Ambreen;
Gowri, Vijaya;
Sawant-Desai, Sneha;
Gupta, Maya

Publication type:

Article

Genetic heterogeneity in X-linked agammaglobulinemia complicates carrier detection and prenatal diagnosis.

Published in:

Clinical Genetics, 1987, v. 31, n. 2, p. 91, doi. 10.1111/j.1399-0004.1987.tb02775.x

By:

Mensink, E. J. B. M.;
Thompson, A.;
Schot, J. D. L.;
Kraakman, M. E. M.;
Sandkuyl, L. A.;
Schuurman, R. K. B.

Publication type:

Article

Regarding the article: Update on the genetic bases and therapeutic perspectives in Xlinked Agammaglobulinemia or Bruton's disease.

Published in:

Revista de Ciencias Médicas de Pinar del Río, 2024, v. 28, n. 1, p. 1

By:

Taboada-Lugo, Noel

Publication type:

Article

A propósito del artículo: Actualización sobre las bases genéticas y perspectivas terapéuticas en la Agammaglobulinemia ligada al X o enfermedad de Bruton.

Published in:

Revista de Ciencias Médicas de Pinar del Río, 2024, v. 28, n. 1, p. 1

By:

Taboada-Lugo, Noel

Publication type:

Article

Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 1, p. 96, doi. 10.1007/s10875-019-00706-4

By:

Ben-Ali, Meriem;
Kechout, Nadia;
Mekki, Najla;
Yang, Jing;
Chan, Koon Wing;
Barakat, Abdelhamid;
Aadam, Zahra;
Gamara, Jouda;
Gargouri, Lamia;
Largueche, Beya;
BelHadj-Hmida, Nabil;
Nedri, Amel;
Ameur, Houcine Ben;
Mellouli, Fethi;
Boukari, Rachida;
Bejaoui, Mohamed;
Bousfiha, Aziz;
Ben-Mustapha, Imen;
Lau, Yu-Lung;
Barbouche, Mohamed-Ridha

Publication type:

Article

Atypical Manifestation of X-linked Agammaglobulinemia – the Importance of Genetic Testing.

Published in:

Acta Medica, 2024, v. 67, n. 2, p. 60, doi. 10.14712/18059694.2024.21

By:

Markocsy, Adam;
Kapustová, Daniela;
Čereš, Andrej;
Froňkova, Eva;
Jeseňák, Miloš

Publication type:

Article

A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness.

Published in:

Pediatric Allergy & Immunology, 2001, v. 12, n. 2, p. 107, doi. 10.1034/j.1399-3038.2001.0129999107.x

By:

Richter, Darko;
Conley, Mary Ellen;
Rohrer, Jurg;
Myers, Laurie A.;
Zahradka, Katarina;
Keleč Ić, Jadranka;
Sertić, Jadranka;
Stavljenić -Rukavina, Ana

Publication type:

Article

Case Report: Invasive Non Type b Haemophilus influenzae in Immunocompromised Children.

Published in:

American Journal of Case Reports, 2020, v. 21, p. 1, doi. 10.12659/AJCR.920853

By:

Gozum, Giselle Gayle;
Oksana Tatarina-Nulman;
John, Minnie

Publication type:

Article

INMUNODEFICIENCIAS HUMORALES EN PACIENTES ADULTOS. CUATRO DÉCADAS DE SEGUIMIENTO.

Published in:

Medicina (Buenos Aires), 2022, v. 82, n. 3, p. 361

By:

PAOLINI, MARÍA VIRGINIA;
LAURA LÓPEZ, ANA;
FERNÁNDEZ ROMERO, DIEGO S.

Publication type:

Article

Successful umbilical cord blood stem cell transplantation in a patient with Rothmund–Thomson syndrome and combined immunodeficiency.

Published in:

Clinical Genetics, 2006, v. 69, n. 4, p. 337, doi. 10.1111/j.1399-0004.2006.00592.x

By:

Broom, M. A.;
Wang, L. L.;
Otta, S. K.;
Knutsen, A. P.;
Siegfried, E.;
Batanian, J. R.;
Kelly, M. E.;
Shah, Maulik

Publication type:

Article

Constitutive membrane association potentiates activation of Bruton tyrosine kinase.

Published in:

Oncogene, 1997, v. 15, n. 12, p. 1375, doi. 10.1038/sj.onc.1201308

By:

Li, Tianjian;
Rawlings, David J;
Park, Hyunsun;
Kato, Roberta M;
Witte, Owen N;
Satterthwaite, Anne B

Publication type:

Article

Follow-up of immune response in patients with common variable immunodeficiency following SARS-CoV-2 vaccination.

Published in:

Clinical & Experimental Immunology, 2024, v. 217, n. 3, p. 253, doi. 10.1093/cei/uxae039

By:

Gutiérrez-Bautista, Juan Francisco;
Díaz-Alberola, Irene;
Tarriño, María;
Aguilera, María;
Cobo, Fernando;
Reguera, Juan Antonio;
Rodríguez-Granger, Javier;
Mendoza, Joaquín;
López-Nevot, Miguel Ángel;
Sampedro, Antonio

Publication type:

Article

Progressive B cell depletion in human MALT1 deficiency.

Published in:

Clinical & Experimental Immunology, 2021, v. 206, n. 3, p. 237, doi. 10.1111/cei.13662

By:

Sonoda, Motoshi;
Ishimura, Masataka;
Eguchi, Katsuhide;
Yada, Yutaro;
Lenhartová, Nina;
Shiraishi, Akira;
Tanaka, Tamami;
Sakai, Yasunari;
Ohga, Shouichi

Publication type:

Article

Immunodeficiency diseases.

Published in:

JAMA: Journal of the American Medical Association, 1992, v. 268, n. 20, p. 2797, doi. 10.1001/jama.1992.03490200049006

By:

Buckley, Rebecca Hatcher;
deShazo, Richard D.

Publication type:

Article

Single Mutation Different Clinical Findings: IGLL1 Defect.

Published in:

2024

By:

Naiboğlu, Sezin;
Gezdirici, Alper;
Ulaş, Selami;
Turan, Işılay;
Çeliksoy, Mehmet Halil;
Aydoğmuş, Çiğdem

Publication type:

Case Study

Disseminated Intravascular Coagulation Associated with Large Deletion of Immunoglobulin Heavy Chain.

Published in:

2021

By:

Khalili, Abbas;
Yadegari, Amir Hosein;
Delavari, Samaneh;
Yazdani, Reza;
Abolhassani, Hassan

Publication type:

journal article

Case Report: A Case of X-Linked Agammaglobulinemia With High Serum IgE Levels and Allergic Rhinitis.

Published in:

Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.582376

By:

Cinicola, Bianca;
Uva, Andrea;
Leonardi, Lucia;
Moratto, Daniele;
Giliani, Silvia;
Carsetti, Rita;
Ferrari, Simona;
Zicari, Anna Maria;
Duse, Marzia

Publication type:

Article

Distinct Clinical Features and Novel Mutations in Taiwanese Patients With X-Linked Agammaglobulinemia.

Published in:

Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.02001

By:

Yeh, Yu-Hsin;
Hsieh, Meng-Ying;
Lee, Wen-I;
Huang, Jing-Long;
Chen, Li-Chen;
Yeh, Kuo-Wei;
Ou, Liang-Shiou;
Yao, Tsung-Chieh;
Wu, Chao-Yi;
Lin, Syh-Jae

Publication type:

Article

Presentation of a case of Bruton type primary agammaglobulinemia in Guinea.

Published in:

Pan African Medical Journal, 2020, v. 36, p. 1, doi. 10.11604/pamj.2020.36.385.24771

By:

Condé, Kaba;
Atakla, Hugues Ghislain;
Barry, Mamadou Ciré;
Condé, Mohamed Lamine;
Doré, Malé

Publication type:

Article

Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.

Published in:

Allergy, Asthma & Clinical Immunology, 2016, v. 12, p. 1, doi. 10.1186/s13223-016-0169-2

By:

See-Tarn Woon;
Ameratunga, Rohan

Publication type:

Article

A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathy.

Published in:

Immunogenetics, 2025, v. 77, n. 1, p. 1, doi. 10.1007/s00251-024-01359-3

By:

Spivak, Ilia;
Lev, Atar;
Simon, Amos J.;
Barel, Ortal;
Somekh, Ido;
Somech, Raz

Publication type:

Article

B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.

Published in:

Immunogenetics, 2024, v. 76, n. 3, p. 189, doi. 10.1007/s00251-024-01342-y

By:

Khoshnevisan, Razieh;
Hassanzadeh, Shakiba;
Klein, Christoph;
Rohlfs, Meino;
Grimbacher, Bodo;
Molavi, Newsha;
Zamanifar, Aryana;
Khoshnevisan, Ali;
Jafari, Mahbube;
Bagherpour, Bahram;
Behnam, Mahdiyeh;
Najafi, Somayeh;
Sherkat, Roya

Publication type:

Article

Novel BTK Mutation in Patient with Late Diagnosis of X-Linked Agammaglobulinemia.

Published in:

2023

By:

Kalkat, Amanpreet;
Humpel, Olivia;
Hostoffer, Robert

Publication type:

Case Study

A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two Years.

Published in:

2022

By:

Topyildiz, Ezgi;
Edeer Karaca, Neslihan;
Aygun, Ayse;
Aykut, Ayca;
Durmaz, Asude;
Aksu, Guzide;
Kutukculer, Necil

Publication type:

Case Study

Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.

Published in:

Journal of Clinical Immunology, 2024, v. 44, n. 4, p. 1, doi. 10.1007/s10875-024-01691-z

By:

Marakhonov, Andrey V.;
Efimova, Irina Yu.;
Mukhina, Anna A.;
Zinchenko, Rena A.;
Balinova, Natalya V.;
Rodina, Yulia;
Pershin, Dmitry;
Ryzhkova, Oxana P.;
Orlova, Anna A.;
Zabnenkova, Viktoriia V.;
Cherevatova, Tatiana B.;
Beskorovainaya, Tatiana S.;
Shchagina, Olga A.;
Polyakov, Alexander V.;
Markova, Zhanna G.;
Minzhenkova, Marina E.;
Shilova, Nadezhda V.;
Larin, Sergey S.;
Khadzhieva, Maryam B.;
Dudina, Ekaterina S.

Publication type:

Article

Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 7, p. 987, doi. 10.1007/s10875-020-00794-7

By:

Martín-Nalda, Andrea;
Fortuny, Claudia;
Rey, Lourdes;
Bunney, Tom D.;
Alsina, Laia;
Esteve-Solé, Ana;
Bull, Daniel;
Anton, Maria Carmen;
Basagaña, María;
Casals, Ferran;
Deyá, Angela;
García-Prat, Marina;
Gimeno, Ramon;
Juan, Manel;
Martinez-Banaclocha, Helios;
Martinez-Garcia, Juan J;
Mensa-Vilaró, Anna;
Rabionet, Raquel;
Martin-Begue, Nieves;
Rudilla, Francesc

Publication type:

Article

B-ALL in a 21-year-old male with X-linked agammaglobulinemia (XLA): a case report and review of B-cell malignancies in XLA.

Published in:

2025

By:

Franco, Stephanie;
Fuchs, Joseph;
Dinner, Shira;
Ma, Shuo

Publication type:

Letter to the Editor

X-linked agammaglobulinemia in two siblings with a novel mutation in the BTK gene who presented with polyarticular juvenile idiopathic arthritis.

Published in:

Scandinavian Journal of Rheumatology, 2015, v. 44, n. 2, p. 168, doi. 10.3109/03009742.2014.995699

By:

Patiroglu, T;
Akar, HH;
Gunduz, Z;
Sisko, S;
Ng, YY

Publication type:

Article