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Erschienen in: Journal of Clinical Immunology 4/2015

01.05.2015 | Original Research

Adenosine Deaminase Deficient Severe Combined Immunodeficiency Presenting as Atypical Haemolytic Uraemic Syndrome

verfasst von: Olga Nikolajeva, Austen Worth, Rosie Hague, Nuria Martinez-Alier, Joanne Smart, Stuart Adams, E. Graham Davies, H. Bobby Gaspar

Erschienen in: Journal of Clinical Immunology | Ausgabe 4/2015

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Abstract

Purpose

Adenosine deaminase (ADA) deficiency is a systemic disorder of purine metabolism. Deficiency of the purine salvage enzyme ADA leads to the build-up of the toxic metabolites, deoxyadenosine triphosphate and deoxyadenosine. ADA is ubiquitously expressed in all tissues of the body but most profoundly affects lymphocyte development and function leading to severe combined immunodeficiency (SCID). Unlike most other forms of SCID, ADA deficiency also results in non-immunologic manifestations. Associations between ADA deficiency and sensorineural hearing loss, behavioural abnormalities, non-infectious pulmonary disease and skeletal dysplasia are all recognised, and affect the long term outcome for these patients. Identification of new non-immunological manifestations and clinical presentations of ADA deficiency is essential to allow early optimisation of supportive care.

Methods and Results

Here we report four patients with ADA deficiency whose presenting feature was haemolytic uremic syndrome (HUS). 3 of 4 patients were diagnosed with ADA deficiency only after developing HUS, and one diagnosis was made post mortem, after a sibling was diagnosed with SCID. Shiga-toxigenic organisms were not isolated from any of the patients. 2 patients made a good recovery from their HUS with supportive treatment and initiation of PEG-ADA. Both remain well on enzyme replacement with mild or no residual renal impairment.

Conclusions

Clinicians should be aware of this previously unreported non-immunologic manifestation of ADA deficiency.
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Metadaten
Titel
Adenosine Deaminase Deficient Severe Combined Immunodeficiency Presenting as Atypical Haemolytic Uraemic Syndrome
verfasst von
Olga Nikolajeva
Austen Worth
Rosie Hague
Nuria Martinez-Alier
Joanne Smart
Stuart Adams
E. Graham Davies
H. Bobby Gaspar
Publikationsdatum
01.05.2015
Verlag
Springer US
Erschienen in
Journal of Clinical Immunology / Ausgabe 4/2015
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-015-0158-0

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