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

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

Pt	HPV	Clinical manifestations of immunodeficiency	Plasma levels of immunoglobulins^a	Lymphocyte counts^b	Lymphocyte proliferation^c	SAD^d
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

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
^aLocal laboratory reference values were applied, measured as described previously in (14)
^bLocal laboratory reference values were applied, measured by flow cytometry as described previously in (14)
^cData were obtained from hospital records, measurement performed by various methods
^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)