3127 The Diagnosis of Primary Immune Deficiency in Adults Should Not Be Missed: A Delayed Diagnosis Can Be Devastating

Tuesday, 6 December 2011
Poster Hall (Cancún Center)

Sait Yesillik, MD , Division of Immunology and Allergic Diseases, Gulhane Military Medical Academy and School of Medicine, Ankara, Turkey

Ugur Musabak, MD, Assoc. Prof. , Division of Immunology and Allergic Diseases, Gulhane Military Medical Academy and School of Medicine, Ankara, Turkey

Abdullah Baysan, MD , Division of Immunology and Allergic Diseases, Gulhane Military Medical Academy and School of Medicine, Ankara, Turkey

Fevzi Demirel, MD , Division of Immunology and Allergic Diseases, Gulhane Military Medical Academy and School of Medicine, Ankara, Turkey

Ergun Ucar, MD , Department of Pulmonary Medicine, Gulhane Military Medical Academy and School of Medicine, Ankara, Turkey

Gurkan Rasit Bayar, DDS, PhD , Department of Oral and Maxillofacial Surgery, Gulhane Military Medical Academy, Ankara, Turkey

Mujdat Yenicesu, MD, Prof. , Division of Nephrology, Gulhane Military Medical Academy and School of Medicine, Ankara, Turkey

Osman Sener, MD, Prof. , Division of Immunology and Allergic Diseases, Gulhane Military Medical Academy and School of Medicine, Ankara, Turkey

Background: Although the majority of primary immunodeficiencies (PIDs) are diagnosed in infancy and childhood, between 25- 40 % of all PIDs are frequently appear during adolescence or adulthood. However, many adult patients with PID still remain undiagnosed today. Therefore, in this report, we aimed to present 4 adult PID cases with delayed diagnosis.

Methods: Case 1: A 41-year-old male had suffered from empyema. His medical history revealed frequent upper respiratory tract infections and three or four times pneumonia. While IgM level was normal, IgG and IgA levels and CD4+/CD8+ T cell ratio were lower than the normal ranges.

                Case 2: A 29-year-old male was referred with recurrent febrile illness, chronic diarrhea, hyperpigmented lesions on extremities, and lack of weight gain. In the past 25 years, he had recurrent episodes of sinusitis, acute otitis media or pneumonia with fever. In addition, he had been hospitalized three times due to menengitis. IgM levels were found in normal ranges, but IgG and IgA levels and CD4+/CD8+ T cell ratio were low.

                    Case 3: A 21-year-old male was admitted with fever, cough and ulcers on his tongue. The patient had a history of recurrent upper respiratory tract infections and tuberculosis. The laboratory investigations on admission revealed microscopic hematuria, proteinuria, Coombs' positive haemolytic anaemia, rheumatoid factor positivity, and IgA deficiency.

                Case 4: A 65-year-old male was consulted due to vesiculo-ulcerative lesions on lower lip and oral mucosa and indurated yellow-white plaques on his tongue lasted for 4 years. He had a history of thymectomy because of thymoma identified first by computerized tomography (CT) after a traffic accident. Besides low levels of IgG and IgA, diminished percentages of CD19+ B cells, CD4+ T cells and CD4+/CD8+ T cell ratio invertion were found.

Results: According to ESID-PAGID criteria, the first 2 cases were diagnosed as Common Variable Immune Deficiency, third case was diagnosed as selective IgA deficiency and forth case was diagnosed as Good syndrome.

Conclusions: PID probability should be considered in recurrent, atypical and drug-resistant infections in adulthood and the patients should be referred to the clinical immunologist in time.