Clinical Findings:
Clinical Presentation: Most common form of presentation was
pneumonia (26,4%), skin infection (Herpes simplex, Varicella zoster,
Human papilloma virus infections) (17,6%), URTI (11%), lymphadenopathy
(5,8%), meningitis (5,8 %), and oral mucocutaneous candidiasis (2.3%)
and lichen planus (2,9%). Recurrent respiratory tract infection was the
most common complaint that the patients were referred to the immunology
department before we exclude patients who were under five years old.
Afterwards, frequency of presentation with recurrent URTI decreased
significantly (11 (26%) versus 4 (12%)). Clinical presentation
findings of patients were given in Table 1.
Four patients were asymptomatic, and diagnosed with sIgMD incidentally.
Among all, two patients have history of immunodeficiency in their
family. There were five patients who had family history of increased
susceptibility to infections or immunodeficiencies. Five patients had
syndromic facial features, and two of them were diagnosed with trisomy
21, one was diagnosed with DiGeorge syndrome, one diagnosed with Charge
syndrome, and one with Cohen syndrome (Two more patients were diagnosed
with DiGeorge syndrome among sIgMD patients who ara still under five
years of age so were not included as sIgMD) Cardiac disease (Patent
foramen ovale, mitral and aortic valve insufficiency, mitral valve
prolapse, left ventricular hypertrophy, atrial septal defect, patent
ductus arteriosus) was seen in seven (21.2%) patients. One of the
patients admitted to hospital at the age of 2 months with chickenpox. He
is still being followed up for isolated IgM deficiency. Associating
diseases of sIgMD patients at presentation and follow-up are shown in
Table 1 and 2 respectively.