Information on AGMX1
Basic details
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 17:13:47 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.
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).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | 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 infection |
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%) |
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.