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J Clin Immunol. 2016 Apr;36(3):179-86. doi: 10.1007/s10875-016-0245-x. Epub 2016 Feb 27.

Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency.

Author information

1
CCI-Center for Chronic Immunodeficiency, Universitätsklinikum Freiburg, Engesserstraße 4, 79108, Freiburg, Germany.
2
Zentrum für Kinder- und Jugendmedizin, Universitätsmedizin Mainz, 55131, Czernyweg, Mainz, Germany.
3
Science and Technology Department, BGI-Shenzhen, Main Building, Beishan Industrial Zone, Yantian District, Shenzhen, 518083, China.
4
Institut für klinische Pathologie, Universitätsklinikum Freiburg, Breisacher Str. 115A, 79106, Freiburg, Germany.
5
Duke Biochemistry, University of Duke, Nanaline H. Duke, Box 3711, DUMC, Durham, NC, 27710, USA.
6
CCI-Center for Chronic Immunodeficiency, Universitätsklinikum Freiburg, Engesserstraße 4, 79108, Freiburg, Germany. bodo.grimbacher@uniklinik-freiburg.de.
7
Institute of Immunology and Transplantation, Royal Free Hospital, University College London, Pond Street, London, NW3 2QG, UK. bodo.grimbacher@uniklinik-freiburg.de.

Abstract

PURPOSE:

Determining the monogenic cause of antibody deficiency and immune dysregulation in a non-consanguineous family with healthy parents, two affected children, and one unaffected child.

METHODS:

Whole Exome Sequencing (WES) was performed in the index family. WES results were confirmed by Sanger Sequencing. Dried plasma spots of the male patient and his mother were analyzed for ADA2 enzymatic activity.

RESULTS:

Following data analysis of WES, we found a compound heterozygous mutation in CECR1 (encoding adenosine deaminase 2, ADA2) that segregated in the two affected children. Enzyme activity measurement confirmed a severely diminished ADA2 activity in our patient. The 32 year old index patient was suffering from recurrent respiratory infections and was previously diagnosed with common variable immunodeficiency (CVID), showing no signs of vasculitis. His sister had a systemic lupus erythematosus (SLE)-like phenotype and died at age 17.

CONCLUSIONS:

Deficiency of ADA2 (DADA2) has been reported to cause vasculopathy and early-onset stroke. Our case suggests that it should also be considered when evaluating patients with antibody deficiencies and immune dysregulation syndromes.

KEYWORDS:

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

PMID:
26922074
DOI:
10.1007/s10875-016-0245-x
[Indexed for MEDLINE]

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