Immunodeficiency 63 with lymphoproliferation and autoimmunity
- Synonyms
- CD122 DEFICIENCY; IL2RB DEFICIENCY; INTERLEUKIN 2 RECEPTOR, BETA, DEFICIENCY OF
Summary
Available tests
Clinical tests (11 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of prenatal development or birth
- Decreased fetal movement
Decreased fetal movement
- MedGen UID: 68618
- Concept ID: C0235659
- Finding: Finding
Abnormality of prenatal development or birth
- Decreased fetal movement
- Abnormality of the digestive system
- Diarrhea
Diarrhea
- MedGen UID: 8360
- Concept ID: C0011991
- Finding: Sign or Symptom
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Diarrhea
- Abnormality of the genitourinary system
- Recurrent urinary tract infections
Recurrent urinary tract infections
- MedGen UID: 120466
- Concept ID: C0262655
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Recurrent urinary tract infections
- Abnormality of the immune system
- Autoimmune hemolytic anemia
Autoimmune hemolytic anemia
- MedGen UID: 1918
- Concept ID: C0002880
- Finding: Disease or Syndrome
Abnormality of the immune system
- Autoimmunity
Autoimmunity
- MedGen UID: 2136
- Concept ID: C0004368
- Finding: Pathologic Function
Abnormality of the immune system
- Decreased CD4:CD8 ratio
Decreased CD4:CD8 ratio
- MedGen UID: 163125
- Concept ID: C0853905
- Finding: Finding
Abnormality of the immune system
- Immunodeficiency
Immunodeficiency
- MedGen UID: 7034
- Concept ID: C0021051
- Finding: Disease or Syndrome
Abnormality of the immune system
- Increased circulating IgG level
Increased circulating IgG level
- MedGen UID: 347032
- Concept ID: C1858977
- Finding: Finding
Abnormality of the immune system
- Lymphadenopathy
Lymphadenopathy
- MedGen UID: 96929
- Concept ID: C0497156
- Finding: Disease or Syndrome
Abnormality of the immune system
- Persistent CMV viremia
Persistent CMV viremia
- MedGen UID: 1696514
- Concept ID: C5139221
- Finding: Finding
Abnormality of the immune system
- Recurrent otitis media
Recurrent otitis media
- MedGen UID: 155436
- Concept ID: C0747085
- Finding: Disease or Syndrome
Abnormality of the immune system
- Splenomegaly
Splenomegaly
- MedGen UID: 52469
- Concept ID: C0038002
- Finding: Finding
Abnormality of the immune system
- Autoimmune hemolytic anemia
- Abnormality of the integument
- Ichthyosis
Ichthyosis
- MedGen UID: 7002
- Concept ID: C0020757
- Finding: Disease or Syndrome
Abnormality of the integument
- Ichthyosis
- Abnormality of the respiratory system
- Lymphoid interstitial pneumonia
Lymphoid interstitial pneumonia
- MedGen UID: 82682
- Concept ID: C0264511
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Recurrent respiratory infections
Recurrent respiratory infections
- MedGen UID: 812812
- Concept ID: C3806482
- Finding: Finding
Abnormality of the respiratory system
- Lymphoid interstitial pneumonia
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Failure to thrive
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.