Information on AIEOTB
Basic details
Name: Autoimmunity and early-onset tuberculosis | Acronym: AIEOTB
Alt. names: PD-1 deficiency | early-onset tuberculosis and autoimmunity | autoimmune disease with susceptibility to mycobacterium tuberculosis | AIMTBS
Gene: PDCD1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2021
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
Only 1 patient has been reported to date. The patient presented with tuberculosis, autoimmunity (T1D, hypothyroidism, JIA), fatal pulmonary autoimmunity, and hepatosplenomegaly, mostly intact T cell compartment and normal B cells (PMID:34183838). It is molecularly characterized by lack of PD-1 on patient PBMCs, reduced IFN production in response to mycobacterial stimuli (PMID:34183838).
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
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 |
|---|
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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