Correct!
2. Common variable immunodeficiency
Correct!
2. Common variable immunodeficiency
Wiskott-Aldrich is seen only in males. X-linked agammaglobulinemia (Bruton disease; XLA) is seen predominately in males although a similar disease has been seen in some females. Severe combined immunodeficiency, SCID, is also known as the bubble baby disease or bubble boy disease because its victims are extremely vulnerable to infectious diseases. Our patient's course is not compatible with SCID. Most individuals with ADA deficiency are diagnosed with severe combined immunodeficiency in the first 6 months of life. Without treatment, these babies usually do not survive past age 2.
CVID affects 1:20,000 to 1:50,000 live births (3). The mean onset of symptoms is in the third decade, but diagnosis is often delayed until 7-10 years after symptoms. CVID should be considered in a patient with recurrent sino-pulmonary infections. Joint, bone and gastrointestinal infections may also occur. Diagnosis requires low IgG, low IgA or IgM, and impaired capacity to make specific antibodies in response to immunization or infection. Patients often have T-cell abnormalities as well.
A form of LIP, known as granulomatous and lymphocytic interstitial lung disease (GLILD) seen in patients with CVID. It occurs in ~ 15% of pt with CVID. The etiology is unknown, but it has been suggested that certain viruses may play a role (human Herpes virus 8, EBV, and HIV).
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