X-linked agammaglobulinemia
- Synonyms
- AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1; Agammaglobulinemia, BTK; Agammaglobulinemia, Bruton tyrosine kinase; BTK-deficiency; Bruton's agammaglobulinemia; Bruton-type agammaglobulinemia; IMMUNODEFICIENCY 1
- Modes of inheritance
- X-linked recessive inheritance (Orphanet)
Not genetically inherited (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- CI Edvard Smith
- Anna Berglöf
- view full author information
Available tests
Check Related conditions for additional relevant 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
- Anemia
- Abnormality of the cardiovascular system
- Cor pulmonale
Cor pulmonale
- MedGen UID: 18765
- Concept ID: C0034072
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Cor pulmonale
- Abnormality of the digestive system
- Chronic diarrhea
Chronic diarrhea
- MedGen UID: 96036
- Concept ID: C0401151
- Finding: Finding
Abnormality of the digestive system
- Enteroviral hepatitis
Enteroviral hepatitis
- MedGen UID: 334558
- Concept ID: C1843995
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatocellular carcinoma
Hepatocellular carcinoma
- MedGen UID: 389187
- Concept ID: C2239176
- Finding: Neoplastic Process
Abnormality of the digestive system
- Chronic 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
- 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
- Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine
- MedGen UID: 1692657
- Concept ID: C5139466
- Finding: Finding
Abnormality of the immune system
- Conjunctivitis
Conjunctivitis
- MedGen UID: 1093
- Concept ID: C0009763
- Finding: Disease or Syndrome
Abnormality of the immune system
- Decreased circulating IgA concentration
Decreased circulating IgA concentration
- MedGen UID: 57934
- Concept ID: C0162538
- Finding: Disease or Syndrome
Abnormality of the immune system
- Decreased circulating IgE concentration
Decreased circulating IgE concentration
- MedGen UID: 1714318
- Concept ID: C0853668
- Finding: Finding
Abnormality of the immune system
- Decreased circulating IgG concentration
Decreased circulating IgG concentration
- 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
- Enteroviral dermatomyositis syndrome
Enteroviral dermatomyositis syndrome
- MedGen UID: 812990
- Concept ID: C3806660
- Finding: Finding
Abnormality of the immune system
- Epididymitis
Epididymitis
- MedGen UID: 4986
- Concept ID: C0014534
- Finding: Disease or Syndrome
Abnormality of the immune system
- Infectious encephalitis
Infectious encephalitis
- MedGen UID: 108917
- Concept ID: C0596773
- Finding: Disease or Syndrome
Abnormality of the immune system
- Lymph node hypoplasia
Lymph node hypoplasia
- MedGen UID: 892318
- Concept ID: C4025683
- Finding: Finding
Abnormality of the immune system
- Meningitis
Meningitis
- MedGen UID: 6298
- Concept ID: C0025289
- Finding: Disease or Syndrome
Abnormality of the immune system
- Neutropenia
Neutropenia
- MedGen UID: 163121
- Concept ID: C0853697
- Finding: Finding
Abnormality of the immune system
- Prostatitis
Prostatitis
- MedGen UID: 10965
- Concept ID: C0033581
- Finding: Disease or Syndrome
Abnormality of the immune system
- Pyoderma
Pyoderma
- MedGen UID: 18783
- Concept ID: C0034212
- 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 otitis media
Recurrent otitis media
- MedGen UID: 155436
- Concept ID: C0747085
- Finding: Disease or Syndrome
Abnormality of the immune system
- Sepsis
Sepsis
- MedGen UID: 48626
- Concept ID: C0036690
- Finding: Disease or Syndrome
Abnormality of the immune system
- T lymphocytopenia
T lymphocytopenia
- MedGen UID: 419385
- Concept ID: C2931322
- Finding: Finding
Abnormality of the immune system
- Agammaglobulinemia
- Abnormality of the musculoskeletal system
- Infective arthritis
Infective arthritis
- MedGen UID: 13918
- Concept ID: C0003869
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Infective arthritis
- Abnormality of the nervous system
- Delayed speech and language development
Delayed speech and language development
- MedGen UID: 105318
- Concept ID: C0454644
- Finding: Finding
Abnormality of the nervous system
- Delayed speech and language development
- Abnormality of the respiratory system
- Bronchiectasis
Bronchiectasis
- MedGen UID: 14234
- Concept ID: C0006267
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Bronchiolitis obliterans with obstructive pulmonary disease
Bronchiolitis obliterans with obstructive pulmonary disease
- MedGen UID: 665
- Concept ID: C0006272
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Recurrent lower respiratory tract infections
Recurrent lower respiratory tract infections
- MedGen UID: 756211
- Concept ID: C3163798
- Finding: Disease or Syndrome
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 sinusitis
Recurrent sinusitis
- MedGen UID: 107919
- Concept ID: C0581354
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Wheezing
Wheezing
- MedGen UID: 21917
- Concept ID: C0043144
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Bronchiectasis
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
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