This disorder is characterized by polyclonal B cell lymphocytosis with onset in infancy, splenomegaly, lymphadenopathy, mild immunodeficiency, and increased risk of lymphoma.
42.
Late stage symptoms can include an serous otitis media, otalgia, trismus, dysphagia, cervical lymphadenopathy, persistent pain or referred pain and altered vision.
43.
If the clinical course is more severe, with multiple flares of bulky cervical lymphadenopathy and fever, then a low-dose corticosteroid treatment has been suggested.
44.
Women with enlarged lymph nodes ( lymphadenopathy ) confined to the PET CT scan should be done for squamous cell carcinoma involving lymph nodes of the neck region.
45.
The most common cause of a thickened tracheoesophageal stripe is esophageal carcinoma, however, lymphadenopathy likely cannot be excluded and further evaluation with additional imaging is recommended.
46.
Rarely other manifestations can be seen on CT scans, including military nodular opacities, perihilar opacities ( that mimic hilar lymphadenopathy ), pleural effusions and pulmonary masses.
47.
The hallmark clinical and laboratory features include high fever, hepatosplenomegaly, lymphadenopathy, pancytopenia, liver dysfunction, disseminated intravascular coagulation, hypofibrinogenemia, hyperferritinemia, and hypertriglyceridemia.
48.
PASLI stands for p110 delta activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency . The immunodeficiency manifests as recurrent infections usually starting in childhood.
49.
Thus, the clinical manifestations include splenomegaly and lymphadenopathy, in addition to recurrent sinopulmonary infections, recurrent mucocutaneous herpesvirus, persistent warts and molluscum contagiosum infections, and hypogammaglobulinemia.
50.
Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash.
