Information on AGMX1
Name: Agammaglobulinemia, X-linked 1 | Acronym: AGMX1
Alt. names: X-linked agammaglobulinemia 1 | BTK | Bruton's type agammaglobulinemia | Bruton's agammaglobulinaemia | XLA1
Gene: BTK | MOI: X-linked recessive | Mechanism of action: Loss of Function
No. of cases in DB: 3 | First reported in: 1993
Last updated on: 2023-05-17 by
Description
A B cell deficiency that is that has material basis in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.
Management
Antiinfectious prophylaxis, including gammaglobulins, sometimes with prophylactic antibiotics and early and aggressive treatment of infections may be beneficial; Live viral vaccines should be avoided; Recognition and treatment of growth hormone deficiency may be beneficial.
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | (unusual) Respiratory tract infection |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Hypogammaglobulinemia |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Decreased IgA levels |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 4 | Decreased IgG levels |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 5 | Autoimmunity |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 6 | (unusual) Bacterial infection |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 7 | Bronchiectasis |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 8 | Lung disease |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 9 | Bronchitis |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 10 | Pneumonia |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 11 | Reduced ab-response to tetanus vaccine |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 12 | Recurrent lower respiratory tract infections |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 13 | Recurrent upper respiratory tract infections |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 14 | Vitiligo |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 15 | Decreased IgM levels |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 16 | Reduced number of B cells |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 17 | Splenomegaly |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 18 | Abnormal lymphoproliferation |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 19 | Bacterial meningitis |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 20 | Enteropathy |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 21 | Meningoencephalitis |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 22 | Diarrhea |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 23 | Abnormal B cell count |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 24 | Streptococcal Infection |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 25 | Increased IgM levels |
0 (0.0%) | 1 (33.3%) | 2 (66.7%) |
Age of onset
distribution
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
3 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
| 101624 |
M | 210946 | 50 | PMID:34975878 [Fam.F215:P215] | ||||
| 101818 |
M | 211539 | 20 | PMID:34975878 [Fam.F281:P281] | ||||
| 101833 |
M | 210887 | 40 | Germany | PMID:34975878 [Fam.F295:P295] |
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).