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Ig beta deficiency in humans.
Lougaris V, Ferrari S, Plebani A. Lougaris V, et al. Curr Opin Allergy Clin Immunol. 2008 Dec;8(6):515-9. doi: 10.1097/ACI.0b013e328314b621. Curr Opin Allergy Clin Immunol. 2008. PMID: 18978465 Review.
PURPOSE OF REVIEW: To describe novel immunological and molecular findings regarding early B cell development arrest resulting in autosomal recessive agammaglobulinemia. RECENT FINDINGS: Recently two different groups identified mutations in Ig beta, a componen …
PURPOSE OF REVIEW: To describe novel immunological and molecular findings regarding early B cell development arrest resulting in autosoma …
Evaluation of respiratory complications in patients with X-linked and autosomal recessive agammaglobulinemia.
Fekrvand S, Yazdani R, Olbrich P, Azizi G, Shirzadi R, Modaresi M, Sohani M, Delavari S, Kalantari A, Shariat M, Shafiei A, Lu N, Hassanpour G, Rahimi Hajiabadi M, Ashournia P, Razaghian A, Asgharyan M, Shahraki-Ghadimi Z, Rouhani R, Hoda Fallah F, Rezaei N, Abolhassani H, Aghamohammadi A. Fekrvand S, et al. Pediatr Allergy Immunol. 2020 May;31(4):405-417. doi: 10.1111/pai.13228. Epub 2020 Mar 6. Pediatr Allergy Immunol. 2020. PMID: 32058651
Early defects in B cell development.
Conley ME. Conley ME. Curr Opin Allergy Clin Immunol. 2002 Dec;2(6):517-22. doi: 10.1097/00130832-200212000-00007. Curr Opin Allergy Clin Immunol. 2002. PMID: 14752335 Review.
PURPOSE OF REVIEW: Recent clinical studies in patients with genetically proven X-linked or autosomal recessive agammaglobulinemia provide some guidelines that should influence our management of patients with suspected immunodeficiency. ...Because the physical …
PURPOSE OF REVIEW: Recent clinical studies in patients with genetically proven X-linked or autosomal recessive agammaglobul …
Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration.
Giżewska M, Durda K, Winter T, Ostrowska I, Ołtarzewski M, Klein J, Blankenstein O, Romanowska H, Krzywińska-Zdeb E, Patalan MF, Bartkowiak E, Szczerba N, Seiberling S, Birkenfeld B, Nauck M, von Bernuth H, Meisel C, Bernatowska EA, Walczak M, Pac M. Giżewska M, et al. Front Immunol. 2020 Oct 16;11:1948. doi: 10.3389/fimmu.2020.01948. eCollection 2020. Front Immunol. 2020. PMID: 33178177 Free PMC article.
Final diagnosis included: one case of T-B(low)NK+ SCID, one case of atypical T(low) B(low)NK+ CID, one case of autosomal recessive agammaglobulinemia, and one case of Nijmegen breakage syndrome. ...
Final diagnosis included: one case of T-B(low)NK+ SCID, one case of atypical T(low) B(low)NK+ CID, one case of autosomal recessive …
B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.
Khoshnevisan R, Hassanzadeh S, Klein C, Rohlfs M, Grimbacher B, Molavi N, Zamanifar A, Khoshnevisan A, Jafari M, Bagherpour B, Behnam M, Najafi S, Sherkat R. Khoshnevisan R, et al. Immunogenetics. 2024 Jun;76(3):189-202. doi: 10.1007/s00251-024-01342-y. Epub 2024 Apr 29. Immunogenetics. 2024. PMID: 38683392
Approximately 80 to 90% of individuals exhibit genetic variations in Bruton's agammaglobulinemia tyrosine kinase (BTK), whereas a minority of cases, around 5-10%, are autosomal recessive agammaglobulinemia (ARA). Very few cases are grouped into distinct subca …
Approximately 80 to 90% of individuals exhibit genetic variations in Bruton's agammaglobulinemia tyrosine kinase (BTK), whereas a minority o …
First report on the Moroccan registry of primary immunodeficiencies: 15 years of experience (1998-2012).
Bousfiha AA, Jeddane L, El Hafidi N, Benajiba N, Rada N, El Bakkouri J, Kili A, Benmiloud S, Benhsaien I, Faiz I, Maataoui O, Aadam Z, Aglaguel A, Baba LA, Jouhadi Z, Abilkassem R, Bouskraoui M, Hida M, Najib J, Alj HS, Ailal F; Moroccan Society for Primary Immunodeficiencies (MSPID). Bousfiha AA, et al. J Clin Immunol. 2014 May;34(4):459-68. doi: 10.1007/s10875-014-0005-8. Epub 2014 Mar 12. J Clin Immunol. 2014. PMID: 24619622
The distribution of PIDs was different from that reported in Western countries, with a particularly high proportion of SCID, MHC II deficiencies, hyper-IgE syndrome and autosomal recessive agammaglobulinemia. However, we have now organized a national network, …
The distribution of PIDs was different from that reported in Western countries, with a particularly high proportion of SCID, MHC II deficien …
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.
Marakhonov AV, Efimova IY, Mukhina AA, Zinchenko RA, Balinova NV, Rodina Y, Pershin D, Ryzhkova OP, Orlova AA, Zabnenkova VV, Cherevatova TB, Beskorovainaya TS, Shchagina OA, Polyakov AV, Markova ZG, Minzhenkova ME, Shilova NV, Larin SS, Khadzhieva MB, Dudina ES, Kalinina EV, Mudaeva DA, Saydaeva DH, Matulevich SA, Belyashova EY, Yakubovskiy GI, Tebieva IS, Gabisova YV, Irinina NA, Nurgalieva LR, Saifullina EV, Belyaeva TI, Romanova OS, Voronin SV, Shcherbina A, Kutsev SI. Marakhonov AV, et al. J Clin Immunol. 2024 Apr 5;44(4):93. doi: 10.1007/s10875-024-01691-z. J Clin Immunol. 2024. PMID: 38578360
After lymphocyte subsets were assessed via flow cytometry, samples of 18 infants (0.09) were sent for whole exome sequencing. Confirmed genetic defects were consistent with autosomal recessive agammaglobulinemia in 1/18, severe combined immunodeficiency - in …
After lymphocyte subsets were assessed via flow cytometry, samples of 18 infants (0.09) were sent for whole exome sequencing. Confirmed gene …