Targeted screening by history for IEI in patients presenting with neutropenia
| Targeted screening by history for IEI . | Additional studies to consider . |
|---|---|
| Phagocyte disorders | |
| Recurrent fevers Persistent or recurrent oral ulcers Bleeding and/or receding gums Gingivitis Dental anomalies and/or dental infections Frequent or deep-seated skin infections Perirectal infections or inflammatory bowel disease Developmental delay Cardiac, renal, or skeletal anomalies Personal or family history of MDS/AML | Serial CBCPDs DHR flow Genetic sequencing Echocardiogram Renal ultrasound Skeletal survey Genetic sequencing |
| Bone marrow failure syndromes | |
| Personal or family history of bone marrow failure, MDS, AML, sarcomas, fat malabsorption, warts, lymphedema, pulmonary or hepatic fibrosis, early graying of hair, nail abnormalities, stroke, vasculitis | Pancreatic amylase Fecal elastase Pancreatic ultrasound Telomere length Chromosomal breakage ADA2 level Quantitative immunoglobulins T/B/NK-cell enumeration Genetic sequencing |
| Humoral deficiency | |
| Four or more new ear infections in 1 year Two or more sinus infections or pneumonias requiring antibiotics within the past 1 year Requirement for prolonged course or multiple courses of oral antibiotics to clear “simple” infections Need for intravenous antibiotics and/or hospitalizations for infection treatment | Quantitative immunoglobulins T/B/NK-cell enumeration Vaccine antibody responses BTK flow cytometry Genetic sequencing |
| Combined immunodeficiency | |
| Abnormal TREC newborn screen Failure to thrive Developmental delay Persistent oral thrush or fungal skin infections Two or more deep-seated infections Atypical or opportunistic infections | Quantitative immunoglobulins T/B/NK-cell enumeration Vaccine antibody responses Lymphocyte mitogen proliferation Lymphocyte antigen proliferation TRECs CD40L flow cytometry STAT1 functional screening Toll-like receptor-mediated signaling screening Genetic sequencing |
| Immune dysregulation | |
| Personal or family history of inflammatory bowel disease, particularly with onset prior to age 6, autoimmune cytopenias, progressive neurological dysfunction, hemophagocytic lymphohistiocytosis Evidence of nonmalignant lymphoproliferation with chronic lymphadenopathy or splenomegaly Differences in hair or skin pigmentation, particularly in relation to immediate family members | Ferritin TCR alpha-beta CD3+CD4−CD8− T cells Genetic sequencing |
| Targeted screening by history for IEI . | Additional studies to consider . |
|---|---|
| Phagocyte disorders | |
| Recurrent fevers Persistent or recurrent oral ulcers Bleeding and/or receding gums Gingivitis Dental anomalies and/or dental infections Frequent or deep-seated skin infections Perirectal infections or inflammatory bowel disease Developmental delay Cardiac, renal, or skeletal anomalies Personal or family history of MDS/AML | Serial CBCPDs DHR flow Genetic sequencing Echocardiogram Renal ultrasound Skeletal survey Genetic sequencing |
| Bone marrow failure syndromes | |
| Personal or family history of bone marrow failure, MDS, AML, sarcomas, fat malabsorption, warts, lymphedema, pulmonary or hepatic fibrosis, early graying of hair, nail abnormalities, stroke, vasculitis | Pancreatic amylase Fecal elastase Pancreatic ultrasound Telomere length Chromosomal breakage ADA2 level Quantitative immunoglobulins T/B/NK-cell enumeration Genetic sequencing |
| Humoral deficiency | |
| Four or more new ear infections in 1 year Two or more sinus infections or pneumonias requiring antibiotics within the past 1 year Requirement for prolonged course or multiple courses of oral antibiotics to clear “simple” infections Need for intravenous antibiotics and/or hospitalizations for infection treatment | Quantitative immunoglobulins T/B/NK-cell enumeration Vaccine antibody responses BTK flow cytometry Genetic sequencing |
| Combined immunodeficiency | |
| Abnormal TREC newborn screen Failure to thrive Developmental delay Persistent oral thrush or fungal skin infections Two or more deep-seated infections Atypical or opportunistic infections | Quantitative immunoglobulins T/B/NK-cell enumeration Vaccine antibody responses Lymphocyte mitogen proliferation Lymphocyte antigen proliferation TRECs CD40L flow cytometry STAT1 functional screening Toll-like receptor-mediated signaling screening Genetic sequencing |
| Immune dysregulation | |
| Personal or family history of inflammatory bowel disease, particularly with onset prior to age 6, autoimmune cytopenias, progressive neurological dysfunction, hemophagocytic lymphohistiocytosis Evidence of nonmalignant lymphoproliferation with chronic lymphadenopathy or splenomegaly Differences in hair or skin pigmentation, particularly in relation to immediate family members | Ferritin TCR alpha-beta CD3+CD4−CD8− T cells Genetic sequencing |
AML, acute myeloid leukemia; CBCPD, complete blood count with platelets and differential; DHR, dihydrorhodamine; MDS, myelodysplastic syndrome; TCR, T-cell receptor; TREC, T-cell receptor excision circle.