Increasing evidence suggests multilineage cytopenias (also known as Evans syndrome) may be caused by inborn errors of immunity (IEI) with immune dysregulation. We studied a patient with autoimmune haemolytic anaemia and immune thrombocytopenia and identified a germline mutation in SASH3 (c.862C>T;p.Arg288Ter), indicating a recently identified IEI. Immunohistochemistry performed after clinically indicated splenectomy revealed severe hypoplasia/absence of germinal centres. The autoimmune phenotype was associated with an increased CD21 T-bet CD11c subset along with decreased regulatory T cells, impaired T-cell proliferation and T-cell exhaustion. The younger brother carries the same SASH3 mutation and shares immunophenotypic features but is currently clinical asymptomatic, indicating heterogeneity of SASH3 deficiency.
Refractory autoimmune mutilineage cytopenias can present in childhood associated with chronic nonmalignant lymphoproliferation (splenomegaly, hepatomegaly, and/or lymphadenopathy). Cytopenias due to peripheral destruction and sequestration have been well recognized since the 1950s and are often lumped together as eponymous syndromes, such as Evans syndrome and Canale-Smith syndrome. Though their clinical and genetic diagnostic workup may appear daunting, it can provide the basis for early intervention, genetic counseling, and empirical and targeted therapies.
Evans syndrome (ES) is a combination of autoimmune blood disorders, primarily autoimmune hemolytic anemia and immune thrombocytopenia, which can occasionally be secondary to other conditions like Hodgkin lymphoma (HL).
A case study is presented of a 56-year-old male diagnosed with both ES and HL; treatments like corticosteroids, IVIG, and ABVD successfully resolved his immune cytopenias.
The literature review indicated 16 other cases of HL and ES occurring together, highlighting the complexity of their relationship and the variable treatment responses, particularly when an underlying condition is present.
Evans syndrome (ES) is a rare autoimmune disorder characterized by the presence of at least two autoimmune cytopenias (AIC), including immune thrombocytopenia (ITP), autoimmune hemolytic anemia (AIHA), and autoimmune neutropenia (AIN). Secondary ES accounts for 21%-50% of cases. ES is characterized by recurrent relapses, serious complications such as thrombosis and infection, and high mortality.
Evans syndrome is a rare autoimmune disorder characterized by autoimmune hemolytic anemia (AIHA) and immune thrombocytopenia (ITP), often linked with systemic lupus erythematosus (SLE). We present a case of a 25-year-old female with a history of rheumatoid arthritis (RA) who presented with new SLE symptoms, including left-sided weakness, pallor, and a photosensitive rash. Laboratory tests confirmed Evans syndrome, and MRI showed a cerebral infarction.
Primary atopic disorders (PAD) are rare genetic conditions caused by specific gene variants that affect skin and immune function, making diagnosis challenging among common allergic disease cases.
Identifying PAD requires recognizing clinical red flags like family history and unusual infections, as conventional lab tests are inadequate for definitive diagnosis.
Whole-genome sequencing (WGS) enhances diagnostic efficiency and accuracy, but requires careful interpretation and collaboration among specialists to effectively manage PAD cases.
