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Quoted phrase not found in phrase index: "Agammaglobulinemia 2, autosomal recessive"
Page 1
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
BACKGROUND: Congenital agammaglobulinemia is the first primary immunodeficiency disorder characterized by a defect in B lymphocyte development and subsequently decreased immunoglobulin levels. ...Among the available patients, pulmonary function tests (PFTs) and/or high-res …
BACKGROUND: Congenital agammaglobulinemia is the first primary immunodeficiency disorder characterized by a defect in B lymphocyte de …
Evaluation of B lymphocyte deficiencies.
Vickery JD, Michael CF, Lew DB. Vickery JD, et al. Cardiovasc Hematol Disord Drug Targets. 2013 Aug;13(2):133-43. doi: 10.2174/1871529x11313020006. Cardiovasc Hematol Disord Drug Targets. 2013. PMID: 23988001 Review.
An arrest in B cell development at the pre-B cell stage leads to agammaglobulinemia and an insignificant number of B cells. X-linked agammaglobulinemia is the most common of these developmental arrests while the autosomal recessive agammaglobulinemi …
An arrest in B cell development at the pre-B cell stage leads to agammaglobulinemia and an insignificant number of B cells. X-linked …
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, hypoga …
Here we review the clinical and biologic features of several PIDs associated with enhanced susceptibility to viral infections and cancer, in …
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 …
Clinical, Immunologic and Molecular Spectrum of Patients with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome: A Systematic Review.
Kiaee F, Zaki-Dizaji M, Hafezi N, Almasi-Hashiani A, Hamedifar H, Sabzevari A, Shirkani A, Zian Z, Jadidi-Niaragh F, Aghamahdi F, Goudarzvand M, Yazdani R, Abolhassani H, Aghamohammadi A, Azizi G. Kiaee F, et al. Endocr Metab Immune Disord Drug Targets. 2021;21(4):664-672. doi: 10.2174/1871530320666200613204426. Endocr Metab Immune Disord Drug Targets. 2021. PMID: 32533820
BACKGROUND: Immunodeficiency, centromeric instability and facial dysmorphism (ICF) syndrome is a rare autosomal recessive immune disorder presenting with hypogammaglobulinemia, developmental delay, and facial anomalies. The ICF type 1, type 2, type 3 and type …
BACKGROUND: Immunodeficiency, centromeric instability and facial dysmorphism (ICF) syndrome is a rare autosomal recessive immu …
Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency.
Geraldo AF, Caorsi R, Tortora D, Gandolfo C, Ammendola R, Alessio M, Conti G, Insalaco A, Pastore S, Martino S, Ceccherini I, Signa S, Gattorno M, Rossi A, Severino M. Geraldo AF, et al. AJNR Am J Neuroradiol. 2021 May;42(5):975-979. doi: 10.3174/ajnr.A7019. Epub 2021 Feb 25. AJNR Am J Neuroradiol. 2021. PMID: 33632736 Free PMC article.
Adenosine deaminase 2 deficiency (OMIM #615688) is an autosomal recessive disorder characterized by a wide clinical spectrum, including small- and medium-sized vessel vasculopathies, but data focusing on the associated neuroimaging features are still scarce i …
Adenosine deaminase 2 deficiency (OMIM #615688) is an autosomal recessive disorder characterized by a wide clinical spe …
The same mutation in a family with adenosine deaminase 2 deficiency.
Sozeri B, Ercan G, Dogan OA, Yıldız J, Demir F, Doğanay L. Sozeri B, et al. Rheumatol Int. 2021 Jan;41(1):227-233. doi: 10.1007/s00296-019-04444-z. Epub 2019 Sep 20. Rheumatol Int. 2021. PMID: 31541281 Review.
The deficiency of adenosine deaminase 2 (DADA2) has recently been defined as a monogenetic autosomal recessive autoinflammatory disease. ...
The deficiency of adenosine deaminase 2 (DADA2) has recently been defined as a monogenetic autosomal recessive autoinfl …
Case Report: Interindividual variability and possible role of heterozygous variants in a family with deficiency of adenosine deaminase 2: are all heterozygous born equals?
Pulvirenti F, Cinicola BL, Ferrari S, Guadagnolo D, Sculco E, Capponi M, Loffredo L, Sciannamea M, Insalaco A, Quinti I, De Benedetti F, Zicari AM. Pulvirenti F, et al. Front Immunol. 2023 May 3;14:1156689. doi: 10.3389/fimmu.2023.1156689. eCollection 2023. Front Immunol. 2023. PMID: 37207212 Free PMC article.
Deficiency of adenosine deaminase 2 (DADA2) is a rare systemic autoinflammatory disease, typically with autosomal recessive inheritance, usually caused by biallelic loss of function mutations in the ADA2 gene. ...The mother demonstrated mild hypogammaglobulin …
Deficiency of adenosine deaminase 2 (DADA2) is a rare systemic autoinflammatory disease, typically with autosomal recessive …
ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.
Cagdas D, Gur Cetinkaya P, Karaatmaca B, Esenboga S, Tan C, Yılmaz T, Gümüş E, Barış S, Kuşkonmaz B, Ozgur TT, Bali P, Santisteban I, Orhan D, Yüce A, Cetinkaya D, Boztug K, Hershfield M, Sanal O, Tezcan İ. Cagdas D, et al. J Clin Immunol. 2018 May;38(4):484-493. doi: 10.1007/s10875-018-0496-9. Epub 2018 May 9. J Clin Immunol. 2018. PMID: 29744787
INTRODUCTION: Adenosine deaminase (ADA) deficiency is an autosomal recessive primary immunodeficiency. It results in the intracellular accumulation of toxic metabolites which have effects particularly on lymphocytes and the brain. ...Eight patients with ADA-SCID wer …
INTRODUCTION: Adenosine deaminase (ADA) deficiency is an autosomal recessive primary immunodeficiency. It results in the intra …
Clinical and Immunological Characterization of ICF Syndrome in Japan.
Kamae C, Imai K, Kato T, Okano T, Honma K, Nakagawa N, Yeh TW, Noguchi E, Ohara A, Shigemura T, Takahashi H, Takakura S, Hayashi M, Honma A, Watanabe S, Shigemori T, Ohara O, Sasaki H, Kubota T, Morio T, Kanegane H, Nonoyama S. Kamae C, et al. J Clin Immunol. 2018 Nov;38(8):927-937. doi: 10.1007/s10875-018-0559-y. Epub 2018 Oct 23. J Clin Immunol. 2018. PMID: 30353301
OBJECTIVE: Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare autosomal recessive primary immunodeficiency. Hypogammaglobulinemia is a major manifestation of ICF syndrome, but immunoglobulin replacement therapy does not seem to …
OBJECTIVE: Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare autosomal recessive primar …
24 results