Neutropenia as a sign of immunodeficiency

X-Linked Agammaglobulinemia Presenting as Neutropenia: Case Report and an Overview of Literature

“…The differential diagnosis of neutropenia in the first year of life is broad and includes primary defects due to due to abnormal myeloid development, defective migration from the bone marrow, impaired neutrophil survival, and secondary (acquired) neutropenia often due to severe infections or other causes ( 1 ). The role of the neutrophil in preventing disease is highlighted by the fact that infants with severe congenital neutropenia often die before 1 year of age.…”

“…The role of the neutrophil in preventing disease is highlighted by the fact that infants with severe congenital neutropenia often die before 1 year of age. In addition, in patients with HIV, neutropenia alone is known to increase risk of invasive bacterial infection and mortality ( 1 ). While the most common causes of neutropenia in the first year of life are acquired and can be due to viral infections, medications, or antibodies against neutrophils, neutropenia is also a significant finding in congenital disorders of bone marrow and primary immunodeficiencies (PIDs).…”

“…Additionally, immunodeficiencies that present later in life such as common variable immunodeficiency can also present with autoimmune cytopenias, including autoimmune neutropenia with circulating anti-granulocyte antibodies. X-linked agammaglobulinemia (XLA) and X-linked Hyper IgM syndrome are other primary humoral immunodeficiency disorders that may also present with neutropenia ( 1 , 2 ). The estimated frequency of neutropenia in XLA, in particular, is ~22% ( 2 – 5 ).…”

The Evidence for Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Neutrophil Disorders: A Comprehensive Review by the Inborn Errors Working Party Group of the EBMT

“…Congenital neutrophil disorders as a category of primary immunodeficiency (PID) can be classified in many ways, but a key point of distinction is whether the disorder is quantitative , or qualitative (1). The 2017 International Union of Immunological Societies (IUIS) Phenotypic Classification for Primary Immunodeficiencies divides neutrophil disorders into four broad categories: congenital neutropenia associated with or without syndromic disease, and functional neutrophil defects with or without syndromic disease (2).…”

“…Some patients develop severe autoinflammatory complications underlining the role of neutrophils in autoinflammatory processes beyond microbial defense (5, 6). In many of these diseases there is a recognized risk of progression to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) (1, 2, 7, 8). Treatment for neutrophil disorders classically comprises anti-microbial therapy, granulocyte-colony stimulating factor (G-CSF), and allogeneic hematopoietic stem cell transplantation (alloHSCT) (8).…”