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Items: 3

1.

Immunodeficiency, common variable, 10

Common variable immunodeficiency-10 (CVID10) is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594). [from OMIM]

MedGen UID:
816321
Concept ID:
C3809991
Disease or Syndrome
2.

Mediastinal yolk sac tumor

An extragonadal non-seminomatous malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of small pale cells with small amount of cytoplasm and round to oval nuclei with small nucleoli forming a variety of patterns, including microcystic, macrocystic, pseudopapillary, myxomatous, hepatoid, polyvesicular vitelline, and solid. It manifests with respiratory distress, thoracic pain, fever, and superior vena cava syndrome. [from NCI]

MedGen UID:
233176
Concept ID:
C1334683
Neoplastic Process
3.

Increased muscle lipid content

An abnormal accumulation of lipids in skeletal muscle. [from HPO]

MedGen UID:
373292
Concept ID:
C1837262
Finding
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