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Splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells

MedGen UID:
357126
Concept ID:
C1866744
Disease or Syndrome
Synonym: Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T-Helper Cells
 
Monarch Initiative: MONDO:0008461
OMIM®: 183350

Clinical features

From HPO
Pancytopenia
MedGen UID:
18281
Concept ID:
C0030312
Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Hypersplenism
MedGen UID:
9372
Concept ID:
C0020532
Disease or Syndrome
A malfunctioning of the spleen in which it prematurely destroys red blood cells.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Cutaneous anergy
MedGen UID:
344575
Concept ID:
C1855781
Finding
Inability to react to a delayed hypersensitivity skin test.
Decreased helper T cell proportion
MedGen UID:
870281
Concept ID:
C4024723
Finding
Reduced proportion of helper T cells relative to the total number of T cells.

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