Summary of recommendations
| Condition | Genomic testing recommended |
|---|---|
| SCID | Rapid genomic testing is recommended for all patients with SCID |
| CID | Genomic testing should be considered in all patients with CID |
| Phagocytic defects | Genomic testing is recommended for all patients with suspected monogenic phagocytic defects, including CGD and LAD |
| Susceptibility to specific infections | Genomic testing is recommended for patients with susceptibility to specific organisms suggestive of a monogenic IEI |
| Evans syndrome | Genomic testing is recommended for all pediatric patients presenting with Evans syndrome |
| Autoimmune lymphoproliferative syndromes | Genomic testing is recommended in all pediatric patients with autoimmune lymphoproliferative syndromes and should be considered in patients with unexplained chronic or recurrent lymphadenopathy, splenomegaly, or organ infiltration by abnormal lymphoid cells. In the case of a negative result, discussion with a geneticist in regard to somatic testing is recommended |
| Condition | Genomic testing recommended for some patients |
| Immune dysregulation | Genomic testing should be considered in patients with immune dysregulation based on clinical features, including early age of onset, severity of disease, treatment resistance, and family history |
| HLH | Rapid genomic testing is recommended for all pediatric patients with suspected familial or primary HLH due to treatment implications. The likelihood of a genetic diagnosis in adults with HLH is lower and decisions to proceed with genomic testing should be made in consultation with an adult immunologist or hematologist with expertise in HLH |
| Very early onset IBD (VEO-IBD) | Genomic testing should be considered for all children presenting with IBD <2yo and for patients >2yo with atypical features, including recurrent infections, complex autoimmunity, severe perianal disease, treatment resistance, and family history |
| Autoinflammation/periodic fever | Genomic testing should be considered in selected patients who present with a classical phenotype suggestive of a monogenic disorder or based on atypical features, severity of disease, treatment resistance, and family history to guide selection of therapy, especially if associated with early age of onset |
| Predominantly antibody deficiencies | Genomic testing should be considered in patients with a high suspicion of a monogenic disorder, based on clinical features, including early age of onset, severe disease, and family history |
| Condition | Genomic testing recommended |
|---|---|
| SCID | Rapid genomic testing is recommended for all patients with SCID |
| CID | Genomic testing should be considered in all patients with CID |
| Phagocytic defects | Genomic testing is recommended for all patients with suspected monogenic phagocytic defects, including CGD and LAD |
| Susceptibility to specific infections | Genomic testing is recommended for patients with susceptibility to specific organisms suggestive of a monogenic IEI |
| Evans syndrome | Genomic testing is recommended for all pediatric patients presenting with Evans syndrome |
| Autoimmune lymphoproliferative syndromes | Genomic testing is recommended in all pediatric patients with autoimmune lymphoproliferative syndromes and should be considered in patients with unexplained chronic or recurrent lymphadenopathy, splenomegaly, or organ infiltration by abnormal lymphoid cells. |
| Immune dysregulation | Genomic testing should be considered in patients with immune dysregulation based on clinical features, including early age of onset, severity of disease, treatment resistance, and family history |
| HLH | Rapid genomic testing is recommended for all pediatric patients with suspected familial or primary HLH due to treatment implications. |
| Very early onset IBD (VEO-IBD) | Genomic testing should be considered for all children presenting with IBD <2yo and for patients >2yo with atypical features, including recurrent infections, complex autoimmunity, severe perianal disease, treatment resistance, and family history |
| Autoinflammation/periodic fever | Genomic testing should be considered in selected patients who present with a classical phenotype suggestive of a monogenic disorder or based on atypical features, severity of disease, treatment resistance, and family history to guide selection of therapy, especially if associated with early age of onset |
| Predominantly antibody deficiencies | Genomic testing should be considered in patients with a high suspicion of a monogenic disorder, based on clinical features, including early age of onset, severe disease, and family history |
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