Pancytopenia due to IKZF1 mutations
- Synonyms
- Immunodeficiency, common variable, 13
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (29 available)
Cytogenetics Tests
Clinical features
Help- 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
- Pancytopenia
- Abnormality of prenatal development or birth
- Fetal distress
Fetal distress
- MedGen UID: 5164
- Concept ID: C0015930
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Polyhydramnios
Polyhydramnios
- MedGen UID: 6936
- Concept ID: C0020224
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Fetal distress
- Abnormality of the immune system
- B lymphocytopenia
B lymphocytopenia
- MedGen UID: 340780
- Concept ID: C1855067
- Finding: Finding
Abnormality of the immune system
- Combined immunodeficiency
Combined immunodeficiency
- MedGen UID: 751396
- Concept ID: C2711630
- Finding: Disease or Syndrome
Abnormality of the immune system
- Decreased circulating antibody level
Decreased circulating antibody level
- MedGen UID: 892481
- Concept ID: C4048270
- Finding: Finding
Abnormality of the immune system
- Recurrent bacterial infections
Recurrent bacterial infections
- MedGen UID: 334943
- Concept ID: C1844383
- Finding: Finding
Abnormality of the immune system
- Recurrent fungal infections
Recurrent fungal infections
- MedGen UID: 336166
- Concept ID: C1844384
- Finding: Disease or Syndrome
Abnormality of the immune system
- Recurrent viral infections
Recurrent viral infections
- MedGen UID: 332357
- Concept ID: C1837066
- Finding: Finding
Abnormality of the immune system
- B lymphocytopenia
- Neoplasm
- Acute lymphoid leukemia
Acute lymphoid leukemia
- MedGen UID: 7317
- Concept ID: C0023449
- Finding: Neoplastic Process
Neoplasm
- Acute lymphoid leukemia
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