A novel mutation of adenosine deaminase causing SCID presenting as hemophagocytic lymphohistiocytosis with acute kidney injury

Br J Haematol. 2020 Nov;191(3):509-512. doi: 10.1111/bjh.17058. Epub 2020 Sep 10.

Authors

Aakash C Chidambaram¹, Kaushik Maulik¹, Jaikumar G Ramamoorthy¹, Narayanan Parameswaran¹

Affiliation

¹ Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India.

PMID: 33174709
DOI: 10.1111/bjh.17058

No abstract available

Keywords: ADA; SCID; acute kidney injury (AKI); exon 11; hemophagocytic lymphohistiocytosis (HLH); immunodeficiency.

Publication types

Case Reports
Letter

MeSH terms

Acute Kidney Injury / diagnosis*
Acute Kidney Injury / etiology*
Adenosine Deaminase / genetics*
Biomarkers
Consanguinity
Diagnosis, Differential
Female
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Infant
Lymphohistiocytosis, Hemophagocytic / diagnosis*
Lymphohistiocytosis, Hemophagocytic / etiology*
Mutation*
Pedigree
Phenotype
Severe Combined Immunodeficiency / complications
Severe Combined Immunodeficiency / diagnosis*
Severe Combined Immunodeficiency / genetics*

Substances

Biomarkers
Adenosine Deaminase