X-linked lymphoproliferative disease due to XIAP deficiency
- Synonyms
- Lymphoproliferative syndrome 2, X-linked; XIAP DEFICIENCY
- Modes of inheritance
- X-linked recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Lauren Meyer
- Melissa Hines
- Kejian Zhang
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (48 available)
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Aplastic anemia
Aplastic anemia
- MedGen UID: 8063
- Concept ID: C0002874
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Hypofibrinogenemia
Hypofibrinogenemia
- MedGen UID: 107511
- Concept ID: C0553681
- 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
- Aplastic anemia
- Abnormality of metabolism/homeostasis
- Fever
Fever
- MedGen UID: 5169
- Concept ID: C0015967
- Finding: Sign or Symptom
Abnormality of metabolism/homeostasis
- Hypertriglyceridemia
Hypertriglyceridemia
- MedGen UID: 167238
- Concept ID: C0813230
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased circulating ferritin concentration
Increased circulating ferritin concentration
- MedGen UID: 69130
- Concept ID: C0241013
- Finding: Finding
Abnormality of metabolism/homeostasis
- Recurrent fever
Recurrent fever
- MedGen UID: 811468
- Concept ID: C3714772
- Finding: Sign or Symptom
Abnormality of metabolism/homeostasis
- Fever
- Abnormality of the digestive system
- Colitis
Colitis
- MedGen UID: 40385
- Concept ID: C0009319
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatitis
Hepatitis
- MedGen UID: 5515
- Concept ID: C0019158
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Inflammation of the large intestine
Inflammation of the large intestine
- MedGen UID: 662273
- Concept ID: C0578878
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Colitis
- Abnormality of the immune system
- Acne
Acne
- MedGen UID: 152379
- Concept ID: C0702166
- 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
- Erythema nodosum
Erythema nodosum
- MedGen UID: 41858
- Concept ID: C0014743
- Finding: Disease or Syndrome
Abnormality of the immune system
- Folliculitis
Folliculitis
- MedGen UID: 4752
- Concept ID: C0016436
- Finding: Disease or Syndrome
Abnormality of the immune system
- Hemophagocytosis
Hemophagocytosis
- MedGen UID: 163750
- Concept ID: C0876991
- Finding: Disease or Syndrome
Abnormality of the immune system
- Immunodeficiency
Immunodeficiency
- MedGen UID: 7034
- Concept ID: C0021051
- Finding: Disease or Syndrome
Abnormality of the immune system
- Recurrent infections
Recurrent infections
- MedGen UID: 65998
- Concept ID: C0239998
- Finding: Finding
Abnormality of the immune system
- Recurrent skin infections
Recurrent skin infections
- MedGen UID: 377848
- Concept ID: C1853193
- Finding: Disease or Syndrome
Abnormality of the immune system
- Splenomegaly
Splenomegaly
- MedGen UID: 52469
- Concept ID: C0038002
- Finding: Finding
Abnormality of the immune system
- Acne
- Abnormality of the respiratory system
- Recurrent respiratory infections
Recurrent respiratory infections
- MedGen UID: 812812
- Concept ID: C3806482
- Finding: Finding
Abnormality of the respiratory system
- Recurrent respiratory infections
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