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Immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes

MedGen UID:
340957
Concept ID:
C1855762
Disease or Syndrome
Synonym: Immunodeficiency, Partial Combined, with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes
 
Monarch Initiative: MONDO:0009455
OMIM®: 242870

Clinical features

From HPO
Immunodeficiency
MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
Recurrent bacterial infections
MedGen UID:
334943
Concept ID:
C1844383
Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
Recurrent candida infections
MedGen UID:
348028
Concept ID:
C1860128
Finding
An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections.
T lymphocytopenia
MedGen UID:
419385
Concept ID:
C2931322
Finding
An abnormally low count of T cells.
Decreased circulating IgG level
MedGen UID:
1720114
Concept ID:
C5234937
Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.

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