Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency

Journal of Clinical Immunology

Volumn 36, Issue 3, 2016, Pages 179-186

  Schepp, Johanna ^a   Bulashevska, Alla ^a   Mannhardt Laakmann, Wilma ^b   Cao, Hongzhi ^c   Yang, Fang ^c   Seidl, Maximilian ^a   Kelly, Susan ^d   Hershfield, Michael ^d   Grimbacher, Bodo ^a,e  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^c BGI SHENZHEN   (China)

^d DUKE UNIVERSITY MEDICAL CENTER   (United States)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

antibody deficiency; common variable immunodeficiency; Deficiency of ADA2; primary immunodeficiency; recurrent infections; systemic lupus erythematosus

Indexed keywords

ADENOSINE DEAMINASE; ADENOSINE DEAMINASE 2; COMPLEMENT COMPONENT C3D; DIPHTHERIA VACCINE; IMMUNOGLOBULIN; IMMUNOGLOBULIN G2; IMMUNOGLOBULIN G3; IMMUNOGLOBULIN G4; METHOTREXATE; PNEUMOCOCCUS VACCINE; STEROID; UNCLASSIFIED DRUG; CECR1 PROTEIN, HUMAN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; SIGNAL PEPTIDE;

ADENOSINE DEAMINASE 2 DEFICIENCY; ADENOSINE DEAMINASE DEFICIENCY; ADULT; ARTICLE; CASE REPORT; COMMON VARIABLE IMMUNODEFICIENCY; CONTROLLED STUDY; DISEASE ASSOCIATION; DRIED BLOOD SPOT TESTING; ENZYME ACTIVITY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; IMMUNOGLOBULIN A DEFICIENCY; IMMUNOGLOBULIN DEFICIENCY; IMMUNOTHERAPY; LUPUS LIKE SYNDROME; MALE; PATIENT COMPLIANCE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RECURRENT INFECTION; RESPIRATORY TRACT INFECTION; SANGER SEQUENCING; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; STEROID THERAPY; WHOLE EXOME SEQUENCING; ADOLESCENT; BLOOD; CHILD; DEFICIENCY; EXOME; FEMALE; GENE EXPRESSION; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; PATHOLOGY; PEDIGREE; SYSTEMIC LUPUS ERYTHEMATOSUS;

ADENOSINE DEAMINASE; ADOLESCENT; ADULT; CHILD; COMMON VARIABLE IMMUNODEFICIENCY; DRIED BLOOD SPOT TESTING; EXOME; FEMALE; GENE EXPRESSION; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MUTATION; PEDIGREE; PHENOTYPE;

EID: 84961116697     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-016-0245-x     Document Type: Article

References (18)

1. Navon Elkan P, Pierce SB, Segel R, et al. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med. 2014;370:921–31.
2. Zhou Q, Yang D, Ombrello AK, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med. 2014;370:911–20.
3. Garg N, Kasapcopur O, Foster J, et al. Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy. Eur J Pediatr. 2014;173:827–30.
4. Belot A, Wassmer E, Twilt M, et al. Mutations in CECR1 associated with a neutrophil signature in peripheral blood. Pediatr Rheumatol Online J. 2014;12:44.
5. Zavialov AV, Gracia E, Glaichenhaus N, Franco R, Zavialov AV, Lauvau G. Human adenosine deaminase 2 induces differentiation of monocytes into macrophages and stimulates proliferation of T helper cells and macrophages. J Leukoc Biol. 2010;88(2):279–90.
6. Langmead B, Salzberg SL. Fast gapped-read alignment with bowtie 2. Nat Methods. 2012;9:357–9.
7. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, et al. The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20:1297–303.
8. Danecek P, Auton A, Abecasis G, Albers CA, Banks E, DePristo MA, Handsaker RE, Lunter G, Marth GT, Sherry ST, et al. The variant call format and VCFtools. Bioinformatics. 2011;27:2156–8.
9. Cingolani P, Platts A, Wang le L, Coon M, Nguyen T, Wang L, Land SJ, Lu X, Ruden DM. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly. 2012;6:80–92.
10. Schubert D, Bode C, Kenefeck R, Hou TZ, Wing JB, Kennedy A, Bulashevska A, Petersen BS, Schaffer AA, Gruning BA, et al. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. Nat Med. 2014;20:1410–6.
11. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4:1073–81.
12. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7:248–9.
13. Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. representing PAGID (pan-american group for immunodeficiency) and ESID (European society for immunodeficiencies). Clin Immunol. 1999;93(3):190–710.
14. Hochberg MC. Updating the American College Of Rheumatology revised criteria for the classification of systemic lupus erythematosus [letter]. Arthritis Rheum. 1997;40:1725.
15. Van Eyck L, Hershfield MS, Pombal D, et al. Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency. J Allergy ClinImmunol. 2015;135:283–7.
16. Correspondence. Mutant ADA2 in Vasculopathies. N Engl J Med. 2014;371:478–81.
17. Westendorp WF, Nederkoorn PJ, Aksentijevich I, Hak AE, Lichtenbelt KD, Braun KP. Unexplained early-onset lacunar stroke and inflammatory skin lesions: consider ADA2 deficiency. Neurology. 2015;84(20):2092–3.
18. Fellmann F, Angelini F, Wassenberg J, Perreau M, Arenas Ramirez N, Simon G, Boyman O, Demaria O, Christen-Zaech S, Hohl D, Belfiore M, von Scheven-Gete A, Gilliet M, Bochud PY, Perrin Y, Beck Popovic M, Bart PA, Beckmann JS, Martinet D, Hofer M. IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation. J Allergy Clin Immunol 2015. doi:10.1016/j.jaci.2015.07.053