Publications
2021
A novel homozygous RAG1 mutation is associated with severe combined immunodeficiency and neurological presentations.
Shafeghat M,
Esmaeilzadeh H,
Sadeghalvad M,
Rayzan E,
Zoghi S,
Shahkarami S,
Heredia Jimenez R,
Krolo A,
Boztug K,
Rezaei N.
Allergol Immunopathol (Madr). 2021 Jul 1;49(4):91-97. doi: 10.15586/aei.v49i4.194. eCollection 2021.
2021
Impaired respiratory burst contributes to infections in PKCδ-deficient patients.
Neehus AL,
Moriya K,
Nieto-Patlán A,
Le Voyer T,
Lévy R,
Özen A,
Karakoc-Aydiner E,
Baris S,
Yildiran A,
Altundag E,
Roynard M,
Haake K,
Migaud M,
Dorgham K,
Gorochov G,
Abel L,
Lachmann N,
Dogu F,
Haskologlu S,
İnce E,
El-Benna J,
Uzel G,
Kiykim A,
Boztug K,
Roderick MR,
Shahrooei M,
Brogan PA,
Abolhassani H,
Hancioglu G,
Parvaneh N,
Belot A,
Ikinciogullari A,
Casanova JL,
Puel A,
Bustamante J.
J Exp Med. 2021 Sep 6;218(9):e20210501. doi: 10.1084/jem.20210501. Epub 2021 Jul 15.
2021
Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity.
Shahin T,
Kuehn HS,
Shoeb MR,
Gawriyski L,
Giuliani S,
Repiscak P,
Hoeger B,
Yüce Petronczki Ö,
Bal SK,
Zoghi S,
Dmytrus J,
Seruggia D,
Castanon I,
Rezaei N,
Varjosalo M,
Halbritter F,
Rosenzweig SD,
Boztug K.
Sci Immunol. 2021 Nov 26;6(65):eabe3981. doi: 10.1126/sciimmunol.abe3981. Epub 2021 Nov 26.
2021
Single-Center Study of 72 Patients with Severe Combined Immunodeficiency: Clinical and Laboratory Features and Outcomes.
Bayram O,
Haskologlu S,
Bayrakoğlu D,
Bal SK,
Islamoglu C,
Cipe FE,
Kendirli T,
Kursun N,
Guner SN,
Yildiran A,
Bozdogan G,
Yuksek M,
Reisli I,
Dalva K,
Aytekin C,
Boztug K,
Dogu F,
Ikinciogullari A.
J Clin Immunol. 2021 Oct;41(7):1563-1573. doi: 10.1007/s10875-021-01062-y. Epub 2021 Jun 10.
2021
Actin Dynamics at the T Cell Synapse as Revealed by Immune-Related Actinopathies.
Dupré L,
Boztug K,
Pfajfer L.
Front Cell Dev Biol. 2021 Jun 24;9:665519. doi: 10.3389/fcell.2021.665519. eCollection 2021.
2021
Diversity in Serine/Threonine Protein Kinase-4 Deficiency and Review of the Literature.
Cagdas D,
Halacli SO,
Tan C,
Esenboga S,
Karaatmaca B,
Cetinkaya PG,
Balcı-Hayta B,
Ayhan A,
Uner A,
Orhan D,
Boztug K,
Ozen S,
Topaloglu R,
Sanal O,
Tezcan I.
J Allergy Clin Immunol Pract. 2021 Oct;9(10):3752-3766.e4. doi: 10.1016/j.jaip.2021.05.032. Epub 2021 Jun 17.
2021
Thrombomodulin in patients with mild to moderate bleeding tendency.
Mehic D,
Tolios A,
Hofer S,
Ay C,
Haslacher H,
Downes K,
Haimel M,
Pabinger I,
Gebhart J.
Haemophilia. 2021 Nov;27(6):1028-1036. doi: 10.1111/hae.14433. Epub 2021 Oct 10.
2021
Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity.
Shahin T,
Kuehn HS,
Shoeb MR,
Gawriyski L,
Giuliani S,
Repiscak P,
Hoeger B,
Yüce Petronczki O,
Köstel Bal S,
Zoghi S,
Dmytrus J,
Seruggia D,
Castanon I,
Rezaei N,
Varjosalo M,
Halbritter F,
Rosenzweig SD,
Boztug K.
Sci Immunol. 2021 Nov 26;6(65):eabe3981. doi: 10.1126/sciimmunol.abe3981. Epub 2021 Nov 26.
2021
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
Haimel H,
Pazmandi J,
Jiménez Heredia R,
Dmytrus J,
Köstel Bal S,
Zoghi S,
van Daele P,
Briggs TA,
Wouters C,
Bader-Meunier B,
Aeschlimann FA,
Caorsi R,
Eleftheriou D,
Hoppenreijs E,
Salzer E,
Bakhtiar S,
Derfalvi B,
Saettini F,
Kusters MAA,
Elfeky R,
Trück J,
Rivière JQ,
van der Burg M,
Gattorno M,
Seidel MG,
Burns S,
Warnatz K,
Hauck F,
Brogan P,
Gilmour KC,
Schuetz C,
Simon A,
Bock C,
Hambleton S,
de Vries E,
Robinson PN,
van Gijn M,
Boztug K.
J Allergy Clin Immunol
2021
Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis.
Yucel E,
Karakus IS,
Krolo A,
Kiykim A,
Heredia RJ,
Tamay Z,
Cipe FE,
Karakoc-Aydiner E,
Ozen A,
Karaman S,
Boztug K,
Baris S.
J Clin Immunol. 2021 Jan;41(1):59-65. doi: 10.1007/s10875-020-00878-4. Epub 2020 Oct 6.
