Agammaglobulinemia 8b, autosomal recessive
- Synonyms
- AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO TCF3 DEFECT
Summary
Available tests
Clinical tests (2 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Anemia
Anemia
- MedGen UID: 1526
- Concept ID: C0002871
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Pancytopenia
Pancytopenia
- MedGen UID: 18281
- Concept ID: C0030312
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Anemia
- Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- Everted upper lip vermilion
Everted upper lip vermilion
- MedGen UID: 869272
- Concept ID: C4023698
- Finding: Finding
Abnormality of head or neck
- Short philtrum
Short philtrum
- MedGen UID: 350006
- Concept ID: C1861324
- Finding: Finding
Abnormality of head or neck
- Depressed nasal bridge
- Abnormality of the digestive system
- Chronic diarrhea
Chronic diarrhea
- MedGen UID: 96036
- Concept ID: C0401151
- Finding: Finding
Abnormality of the digestive system
- Chronic diarrhea
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Hypertelorism
- Abnormality of the immune system
- Agammaglobulinemia
Agammaglobulinemia
- MedGen UID: 168
- Concept ID: C0001768
- Finding: Disease or Syndrome
Abnormality of the immune system
- B lymphocytopenia
B lymphocytopenia
- MedGen UID: 340780
- Concept ID: C1855067
- Finding: Finding
Abnormality of the immune system
- Decreased circulating IgA level
Decreased circulating IgA level
- MedGen UID: 57934
- Concept ID: C0162538
- Finding: Disease or Syndrome
Abnormality of the immune system
- Decreased circulating IgE
Decreased circulating IgE
- MedGen UID: 1714318
- Concept ID: C0853668
- Finding: Finding
Abnormality of the immune system
- Decreased circulating IgG level
Decreased circulating IgG level
- MedGen UID: 1720114
- Concept ID: C5234937
- Finding: Finding
Abnormality of the immune system
- Decreased circulating total IgM
Decreased circulating total IgM
- MedGen UID: 116095
- Concept ID: C0239989
- Finding: Finding
Abnormality of the immune system
- Decreased proportion of CD8-positive, alpha-beta TEMRA T cells
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells
- MedGen UID: 1711089
- Concept ID: C5398016
- Finding: Finding
Abnormality of the immune system
- Increased proportion of effector memory CD8-positive, alpha-beta T cells
Increased proportion of effector memory CD8-positive, alpha-beta T cells
- MedGen UID: 1690695
- Concept ID: C5139556
- Finding: Finding
Abnormality of the immune system
- Partial absence of specific antibody response to tetanus vaccine
Partial absence of specific antibody response to tetanus vaccine
- MedGen UID: 1699537
- Concept ID: C5139460
- Finding: Finding
Abnormality of the immune system
- Recurrent infections
Recurrent infections
- MedGen UID: 65998
- Concept ID: C0239998
- Finding: Finding
Abnormality of the immune system
- Splenomegaly
Splenomegaly
- MedGen UID: 52469
- Concept ID: C0038002
- Finding: Finding
Abnormality of the immune system
- Agammaglobulinemia
- Abnormality of the respiratory system
- Recurrent pneumonia
Recurrent pneumonia
- MedGen UID: 195802
- Concept ID: C0694550
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Recurrent pneumonia
- Ear malformation
- Overfolded helix
Overfolded helix
- MedGen UID: 325239
- Concept ID: C1837731
- Finding: Finding
Ear malformation
- Prominent stem of antihelix
Prominent stem of antihelix
- MedGen UID: 866565
- Concept ID: C4020910
- Finding: Anatomical Abnormality
Ear malformation
- Overfolded helix
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Failure to thrive
- Neoplasm
- Precursor B-cell acute lymphoblastic leukemia
Precursor B-cell acute lymphoblastic leukemia
- MedGen UID: 83896
- Concept ID: C0349636
- Finding: Neoplastic Process
Neoplasm
- Precursor B-cell acute lymphoblastic leukemia
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