Atypical Hemolytic Uremic Syndrome (aHUS) and Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency (SCID)-Two Diseases That Exacerbate Each Other: Case Report

Int J Mol Sci. 2021 Aug 31;22(17):9479. doi: 10.3390/ijms22179479.


Hemolytic uremic syndrome (HUS) is defined by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury (AKI). Atypical HUS (aHUS), distinguished by its etiology, is caused by uncontrolled overactivation of the alternative complement pathway. The correct diagnosis of aHUS is complex and involves various gene mutations. Severe combined immunodeficiency (SCID), characterized by severe T-cell lymphocytopenia and a lack of antigen-specific T-cell and B-cell immune responses, is of seldom occurrence. In 10-15% of pediatric patients, SCID is caused by adenosine deaminase (ADA) deficiency. The authors describe the case of a boy who suffered from both aHUS and ADA-deficient SCID. At the age of 9 months, the patient presented acute kidney injury with anuria and coagulopathy. The diagnosis of aHUS was established on the basis of alternative complement pathway deregulation and disease-associated gene mutations. Further examination revealed immune system failure and, at the age of 13 months, the ADA deficiency was confirmed by genetic tests and the boy was diagnosed with ADA-SCID. ADA SCID has recently been described as a possible triggering factor of aHUS development and progression. However, more research is required in this field. Nevertheless, it is crucial in clinical practice to be aware of these two co-existing life-threatening diseases.

Keywords: adenosine deaminase deficiency; atypical hemolytic uremic syndrome; children; severe combined immunodeficiency; thrombotic microangiopathy.

Publication types

  • Case Reports

MeSH terms

  • Acute Kidney Injury / complications
  • Acute Kidney Injury / diagnosis
  • Adenosine Deaminase / metabolism
  • Agammaglobulinemia / complications*
  • Agammaglobulinemia / diagnosis*
  • Agammaglobulinemia / physiopathology*
  • Anemia, Hemolytic / diagnosis
  • Atypical Hemolytic Uremic Syndrome / diagnosis
  • Atypical Hemolytic Uremic Syndrome / physiopathology*
  • Comorbidity
  • Humans
  • Infant
  • Male
  • Mutation / genetics
  • Severe Combined Immunodeficiency / complications*
  • Severe Combined Immunodeficiency / diagnosis*
  • Severe Combined Immunodeficiency / physiopathology*
  • Thrombocytopenia / diagnosis
  • Thrombotic Microangiopathies / diagnosis


  • Adenosine Deaminase

Supplementary concepts

  • Severe combined immunodeficiency due to adenosine deaminase deficiency