Table I.

Clinical features of the 56 patients with cartilage-hair hypoplasia.

Clinical feature	Proportion of patients	Comments
Clinical humoral immunodeficiency	26/56 (46%)	Defined as otitis media and/or rhinosinusitis requiring surgical interventions, sepsis, pneumonia and/or bronchiectasis.
Clinical combined immunodeficiency	15/56 (27%)	Defined as a history of severe warts, recurrent and/or severe herpes virus infections, malignancy and/or autoimmunity, with clinical signs of humoral immunodeficiency.
Pneumonia	11/56 (20%)
recurrent	4/11 (36%)
hospitalization	5/11 (45%)
Bronchiectasis	10/34 (29%)	Diagnosed on lung high-resolution computed tomography.
Sinusitis	33/56 (59%)
sinus surgery	21/33 (64%)
Otitis media	41/56 (73%)
tympanostomy	16/41 (39%)
Sepsis	3/56 (5%)
History of warts	19/56 (34%)	Out of two patients with severe warts, one underwent partial amputation of the toe with warts for suspected malignancy and another had protracted history of wide-spread warts.
warts at the time of visit	14/19 (74%)
severe warts	2/19 (11%)
Varicella	42/56 (75%)	History of varicella or positive serology for varicella-zoster virus.
hospitalization	5/42 (12%)
Boils	3/56 (5%)
recurrent	2/3 (67%)
Mucocutaneous herpes simplex virus infection	2/56 (4%)	One patient had required continuous acyclovir prophylaxis for 15 yrs for recurrent skin herpes simplex virus infections.
Allergy	23/56 (41%)	History of allergic rhinoconjunctivitis.
Malignancy	9/56 (16%)	Other malignancies included uterus carcinoma in one patient and vocal cord carcinoma in another.
lymphoma	2/9 (22%)
basal cell carcinoma only	5/9 (56%)
other	2/9 (22%)
Autoimmunity	1/56 (2%)	Juvenile idiopathic arthritis.
Prophylactic antibiotics	7/56 (13%)	Sulfamethoxazole/trimethoprim or azithromycin, commenced for recurrent infections or lymphopenia.
Immunoglobulin substitution	7/56 (13%)	In four patients treatment was still ongoing at the time of the study.