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The Rapidly Expanding Genetic Spectrum of Common Variable Immunodeficiency-Like Disorders.
Ameratunga R, Edwards ESJ, Lehnert K, Leung E, Woon ST, Lea E, Allan C, Chan L, Steele R, Longhurst H, Bryant VL. Ameratunga R, et al. J Allergy Clin Immunol Pract. 2023 Jun;11(6):1646-1664. doi: 10.1016/j.jaip.2023.01.048. Epub 2023 Feb 14. J Allergy Clin Immunol Pract. 2023. PMID: 36796510 Review.
In populations where consanguinity is more prevalent, the majority of patients with severe primary hypogammaglobulinemia will have an underlying inborn error of immunity, usually an early-onset autosomal recessive disorder. In nonconsanguineous societies, pathogenic …
In populations where consanguinity is more prevalent, the majority of patients with severe primary hypogammaglobulinemia will have an underl …
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
Defects in Jak-STAT-mediated cytokine signals cause hyper-IgE syndrome: lessons from a primary immunodeficiency.
Minegishi Y, Karasuyama H. Minegishi Y, et al. Int Immunol. 2009 Feb;21(2):105-12. doi: 10.1093/intimm/dxn134. Epub 2008 Dec 15. Int Immunol. 2009. PMID: 19088064 Review.
Recent studies have demonstrated that hypomorphic mutations in signal transducer and activator of transcription 3 result in the classical multisystem form of HIES, whereas a null mutation in tyrosine kinase 2 causes the autosomal recessive form of HIES that is assoc …
Recent studies have demonstrated that hypomorphic mutations in signal transducer and activator of transcription 3 result in the classical mu …
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
Primary immunodeficiency diseases associated with increased susceptibility to viral infections and malignancies.
Rezaei N, Hedayat M, Aghamohammadi A, Nichols KE. Rezaei N, et al. J Allergy Clin Immunol. 2011 Jun;127(6):1329-41.e2; quiz 1342-3. doi: 10.1016/j.jaci.2011.02.047. Epub 2011 Apr 22. J Allergy Clin Immunol. 2011. PMID: 21514636 Review.
Here we review the clinical and biologic features of several PIDs associated with enhanced susceptibility to viral infections and cancer, including X-linked lymphoproliferative disease; IL-2-inducible T-cell kinase deficiency; epidermodysplasia verruciformis; warts, hypogammaglob …
Here we review the clinical and biologic features of several PIDs associated with enhanced susceptibility to viral infections and cancer, in …
[Multiple facets of ADA2 deficiency: Vasculitis, auto-inflammatory disease and immunodeficiency: A literature review of 135 cases from literature].
Fayand A, Sarrabay G, Belot A, Hentgen V, Kone-Paut I, Grateau G, Melki I, Georgin-Lavialle S. Fayand A, et al. Rev Med Interne. 2018 Apr;39(4):297-306. doi: 10.1016/j.revmed.2017.11.006. Epub 2017 Dec 19. Rev Med Interne. 2018. PMID: 29273180 Review. French.
Deficiency of adenosine deaminase 2 (DADA2) is a recently described auto-inflammatory disorder. It is an autosomal recessive inherited disease, caused by mutations in the ADA2 gene (formerly known as CECR1) encoding ADA2 enzyme. ...
Deficiency of adenosine deaminase 2 (DADA2) is a recently described auto-inflammatory disorder. It is an autosomal recessive i …