Consequences of delayed diagnosis of CVID, a case report

Common variable immunodeficiency (CVID) is the most prevalent inborn error immunity (IEI), characterized by decreased levels of hypogammaglobulinemia and impaired production of specific immunoglobulins (Ig).
A female 23 years old with a medical history of sinusitis, chronic diarrhea, weight loss, and idiopathic thrombocytopenic purpura. The patient was hospitalized twice for pneumonia within the past year; the first admission revealed no isolated organisms, while the second admission revealed E. coli in bronchoalveolar lavage. The physical exam shows failure to thrive, hypotrophy of the lymphoid tissue and oral ulcers. Lymphocytes: 650/mm3, IgA: 10 mg/dl, IgG: 75 mg/dl, and IgM: 20 mg/dl. Based on the results of the physical examination and laboratory tests, a rheumatology approach was initiated, with negative results. A second panel of immunoglobulins was done, revealing decreased levels; leading to the diagnosis of CVID. Because of this, we prescribed intravascular gammaglobulin replacement therapy and azithromycin prophylaxis resulted in a marked clinical improvement.
CVID can manifest with diverse clinical features and, consequently, the patient’s condition may be underdiagnosed. The patient began experiencing symptoms since childhood; however, incorrect diagnoses were made throughout her entire life. CVID has a diagnostic peak at the age of eight years an early diagnosis could have potentially prevented long-term complications, such as the patient’s stunted growth and her two hospitalizations during adulthood. A better understanding of this group of diseases will allow primary care physicians and specialists to better treat IEIs and avoid their complications.

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