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.