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Table 2 Clinical and laboratory manifestations of immunodeficiency in 19 patients with cartilage-hair hypoplasia

From: Gynecologic assessment of 19 adult females with cartilage-hair hypoplasia – high rate of HPV positivity

Pt HPV Clinical manifestations of immunodeficiency Plasma levels of immunoglobulinsa Lymphocyte countsb Lymphocyte proliferationc SADd
2 + NA NA NA NA NA
3 + None Normal Low TLC, CD3+, CD4+, CD8+, CD19+ NA NA
11 + OM, Sin Normal Low CD19+ Abnormal NA
12 + Sin Normal Normal Abnormal no
13 + Sin NA NA Normal NA
15 + BE, Pn, Sin requiring surgery Low IgG Low CD3+, CD4+, CD19+ NA NA
16 + BE, Pn, Sin Normal Low CD3+, CD4+, CD8+ Abnormal yes
17 + None Normal Low TLC, CD8+ NA NA
1 OM, Pn Normal Low TLC, CD3+, CD4+, CD8+, CD16/56+ NA NA
4 OM, severe varicella requiring hospitalization Normal Low TLC, CD3+, CD4+, CD8+, CD19+ NA yes
5 OM, Sin Normal Low TLC, CD3+, CD4+, CD8+ Abnormal NA
6 None Normal Low CD3+, CD4+, CD8+, CD19+ Abnormal NA
8 OM Normal Normal Normal yes
9 Sin requiring surgery Normal Low CD19+ NA NA
10 OM, Sin requiring surgery Ig substitution Low CD3+, CD4+, CD8+, CD19+ Abnormal yes
14 BE, OM, Sin requiring surgery Normal Normal Abnormal yes
18 BE, Pn, Sin requiring surgery Low IgM Low CD19+ NA no
19 None Normal Normal NA NA
7 NA Boils, OM, autoimmunity Ig substitution Low TLC, CD3+, CD4+, CD8+, CD19+ NA yes
  1. BE bronchiectasis, HPV human papillomavirus cervical carriage, Ig immunoglobulin, NA data not available, OM recurrent otitis media, Pn recurrent pneumonia, Pt patient number, SAD specific antibody deficiency, Sin recurrent rhinosinusitis, TLC total lymphocyte count
  2. aLocal laboratory reference values were applied, measured as described previously in (14)
  3. bLocal laboratory reference values were applied, measured by flow cytometry as described previously in (14)
  4. cData were obtained from hospital records, measurement performed by various methods
  5. dSAD was defined as inadequate antibody response to Pneumovax®: a fourfold rise in antibody titers and post-immunization antibody levels ≥0.35 μg/ml to < 70% of serotypes, measured as described previously in (14)