Table 2

Other immunologic laboratory parameters and infection history

PatientSTAT3Laboratory parametersSevere or recurrent infections
Hypogam% DNTsFAS-apoptosis defectOther (ALC nadir/mm3)
1p.G421RYes3.3n/aT lymphopenia (208)No
2p.T663INo1.6-2.6No(3100)Viral pneumonia, molluscum, ocular herpes
3p.R152WYes*2.7-3.5No(1300)Recurrent herpes zoster
4p.V353FYes2.9NoB lymphopenia, poor memory B cells (710)Onychomycosis, skin HPV, herpes zoster, dermatophytic infection
5p.Q344HYesn/an/aDisseminated Pseudomonas, Candida, and Serratia, UTI
6p.E415KTransientn/an/aNeonatal sepsis, recurrent URI, esophageal candidiasis
7p.T716MNo<1n/aT lymphopenia (610)Lung infections
8p.N420KNo1.5, 3.4NoT lymphopenia (913)Recurrent respiratory infections
Family 1
 9, Probandp.A703TNo1.4Yes(2500)No
 10, Fatherp.A703TYesn/an/aBacterial and fungal soft tissue, osteomyelitis
 11, Siblingp.A703TNon/aYesn/a
Family 2
 12, Probandp.T716MNon/an/aHigh B cellsNo
 13, Fatherp.T716Mn/an/an/aNo
  • ALC, absolute lymphocyte count; HPV, human papillomavirus; Hypogam, hypogammaglobulinemia; n/a, not available; URI, upper respiratory infection; UTI, urinary tract infection.

  • * Hypogammaglobulinemia after starting immunosuppression.