Table 5. [Recommended Surveillance for Individuals with X-Linked Hyper IgM Syndrome]. - GeneReviews®

System/Concern	Evaluation	Frequency
Hematology	CBC w/differential to monitor for cytopenias	At least every 6 mos to yrly if stable or w/any change in clinical status
Immunology	IgG levels	IgG frequency depends on time needed to achieve adequate IgG levels; similar to those w/primary antibody deficiency syndromes. Adults: at least yrly
Lymphocyte subpopulations: T, B, & NK cell numbers	Given progressive T, B, & NK loss over time, consider obtaining yrly in nontransplanted adolescents & adults.
CD40L expression in transplanted individuals	Monitor CD40L expression in activated T-cells at least yrly in those who have had HSCT, or if any change in clinical status.
Pulmonary	Pulmonary function tests	Yrly for those age >7 yrs or if change in clinical status
Chest radiograph w/follow up of pulmonary infiltrates w/high-resolution CT scan	As clinically indicated
Gastrointestinal	PCR-based testing of stools for infectious etiologies	At least every 6 mos or if diarrhea present or exposure occurs
Liver function tests	Children: at least every 4-6 mos or if change in clinical status Adults: at least 1-2x/yr or if change in clinical status
Liver ultrasound	≥1x/yr or if change in clinical status
Monitor growth in children. Measure weight in adolescents & adults at least 2x/yr	Children: at every visit; at least every 4-6 mos Adolescents/adults: at least 2x/yr If any change in clinical status
Oncology	Physical exam	Children: at least every 4-6 mos Adolescents/adults: at least 1-2x/yr Low threshold for lymph node biopsy

System/Concern

Evaluation

Frequency

Hematology

CBC w/differential to monitor for cytopenias

At least every 6 mos to yrly if stable or w/any change in clinical status

Immunology

IgG levels

IgG frequency depends on time needed to achieve adequate IgG levels; similar to those w/primary antibody deficiency syndromes.
Adults: at least yrly

Lymphocyte subpopulations: T, B, & NK cell numbers

Given progressive T, B, & NK loss over time, consider obtaining yrly in nontransplanted adolescents & adults.

CD40L expression in transplanted individuals

Monitor CD40L expression in activated T-cells at least yrly in those who have had HSCT, or if any change in clinical status.

Pulmonary

Pulmonary function tests

Yrly for those age >7 yrs or if change in clinical status

Chest radiograph w/follow up of pulmonary infiltrates w/high-resolution CT scan

As clinically indicated

Gastrointestinal

PCR-based testing of stools for infectious etiologies

At least every 6 mos or if diarrhea present or exposure occurs

Liver function tests

Children: at least every 4-6 mos or if change in clinical status
Adults: at least 1-2x/yr or if change in clinical status

Liver ultrasound

≥1x/yr or if change in clinical status

Monitor growth in children.
Measure weight in adolescents & adults at least 2x/yr

Children: at every visit; at least every 4-6 mos
Adolescents/adults: at least 2x/yr
If any change in clinical status

Oncology

Physical exam

Children: at least every 4-6 mos
Adolescents/adults: at least 1-2x/yr
Low threshold for lymph node biopsy

From: X-Linked Hyper IgM Syndrome

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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