22q11.2 deletion syndrome
ICD-10 D82.1 · ICD-11 LD44.N0

Managing Recurrent or Opportunistic Infections in 22q11.2 Deletion Syndrome with Persistent Immune Compromise and Antibody Dysfunction in Adults

While immune deficits in 22q11.2 deletion syndrome often improve over time, a subset of patients carry these deficits into adulthood. When persistent immune compromise is accompanied by antibody dysfunction or deficiency, recurrent and opportunistic infections become the defining clinical challenge.

Clinical Scenario

Adult with 22q11.2 deletion syndrome and persistent immune compromise, documented antibody dysfunction or deficiency, and a history of recurrent or opportunistic infections. In a minority, immune compromise persists into adulthood, often associated with some type of antibody dysfunction and/or deficiency.

Approach (partial)

In this specific subgroup, management centres on a form of immunoglobulin replacement — an intervention required by a minority of patients who meet this clinical pattern.

The complete structured regimen — including eligibility criteria, monitoring parameters, and the full clinical algorithm — is available via the link below.

References

DOI: 10.1016/j.gim.2022.11.012

In a minority, immune compromise persists into adulthood, often associated with some type of antibody dysfunction and/or deficiency.

A minority of patients require immunoglobulin replacement therapy.

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