Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2008 1
2014 1
2016 1
2022 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

5 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Agammaglobulinemia 6, autosomal recessive"
Page 1
Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.
Cicalese MP, Ferrua F, Castagnaro L, Pajno R, Barzaghi F, Giannelli S, Dionisio F, Brigida I, Bonopane M, Casiraghi M, Tabucchi A, Carlucci F, Grunebaum E, Adeli M, Bredius RG, Puck JM, Stepensky P, Tezcan I, Rolfe K, De Boever E, Reinhardt RR, Appleby J, Ciceri F, Roncarolo MG, Aiuti A. Cicalese MP, et al. Blood. 2016 Jul 7;128(1):45-54. doi: 10.1182/blood-2016-01-688226. Epub 2016 Apr 29. Blood. 2016. PMID: 27129325 Free PMC article. Clinical Trial.
Adenosine deaminase (ADA) deficiency is a rare, autosomal-recessive systemic metabolic disease characterized by severe combined immunodeficiency (SCID). ...No events indicative of leukemic transformation were reported. Trial details were registered at www.cli …
Adenosine deaminase (ADA) deficiency is a rare, autosomal-recessive systemic metabolic disease characterized by severe combine …
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 principal clinical signs were lower respiratory tract infections (60.8 %), skin infections (33.5 %) and candidiasis (26.1 %). ...The distribution of PIDs was different from that reported in Western countries, with a particularly high proportion of SCID, MHC II deficien …
The principal clinical signs were lower respiratory tract infections (60.8 %), skin infections (33.5 %) and candidiasis (26.1 %). ... …
Case Report: Susceptibility to viral infections and secondary hemophagocytic lymphohistiocytosis responsive to intravenous immunoglobulin as primary manifestations of adenosine deaminase 2 deficiency.
Drago E, Garbarino F, Signa S, Grossi A, Schena F, Penco F, Santori E, Candotti F, Boztug K, Volpi S, Gattorno M, Caorsi R. Drago E, et al. Front Immunol. 2022 Sep 9;13:937108. doi: 10.3389/fimmu.2022.937108. eCollection 2022. Front Immunol. 2022. PMID: 36159847 Free PMC article.
Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease associated with a highly variable clinical presentation, including systemic vasculitis, immunodeficiency, and cytopenia. ...Anti-TNF treatment was started at the age of 13 for the a …
Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease associated with a highly variable clinical …
Functional antibody deficiency in a patient with type I Gaucher disease.
Jariwala SP, Fodeman J, Hudes G, Ahuja K, Rosenstreich D. Jariwala SP, et al. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S267-70. doi: 10.1007/s10545-008-0824-y. Epub 2008 Apr 4. J Inherit Metab Dis. 2008. PMID: 18392747
Gaucher disease (GD), the most common lysosomal storage disorder, demonstrates an autosomal recessive pattern of inheritance. The genetic defect in GD leads to decreased production of the lysosomal enzyme glucosylceramide hydrolase, thereby resulting in the depositi …
Gaucher disease (GD), the most common lysosomal storage disorder, demonstrates an autosomal recessive pattern of inheritance. …
Fluoxetine Successfully Treats Intracranial Enterovirus E18 Infection in a Patient with CD79a Deficiency Arising from Segmental Uniparental Disomy of Chromosome 19.
Yu L, Zhang Y, Li W, Mao J, Li Y, Wang H, Li C, Yang L, He W, Jia Y, Tang W, Zhou L, Zhang Z, Jia Y, Tang X, Zhao X, An Y. Yu L, et al. J Clin Immunol. 2024 May 28;44(6):137. doi: 10.1007/s10875-024-01740-7. J Clin Immunol. 2024. PMID: 38805163
The CD79a and CD79b mutations, encoding Igalpha and Igbeta respectively, have been identified as the cause of autosomal recessive agammaglobulinemia (ARA). Here, we present a case of a patient with a homozygous CD79a mutation, exhibiting recurrent respiratory …
The CD79a and CD79b mutations, encoding Igalpha and Igbeta respectively, have been identified as the cause of autosomal recessive …