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mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

ORPHA: 319552

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

infections

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, sourced from HPO and Orphanet clinical annotations.

Abnormal circulating interleukin concentrationRecurrent mycobacterial infectionsDisseminated nontuberculous mycobacterial infectionSalmonella osteomyelitisRecurrent candida infectionsTegumentary leishmaniasis susceptibilityLymphadenitisPneumoniaImmunodeficiencyBCGosisVasculitis in the skinRecurrent Klebsiella infectionsHistoplasmosisCoccidioidomycosisSevere toxoplasmosis

Classification & Codes

Orphanet Code

ORPHA:319552
mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
OrphanetORPHA:319552
Treatments0 drug(s)
Symptoms on record15 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | OrphanDrug