Poster Display Diagnostics

INTERLEUKIN-12 RECEPTOR Β1 DEFICIENCY IN THE UNITED STATES

Lecture Time
10:23 - 10:24
Presenter
  • Beatriz Marciano, United States of America
Room
Poster Area
Date
19.09.2019, Thursday
Session Time
10:00 - 17:00
Board Number
44
Presentation Topic
Diagnostics

Abstract

Background and Aims

Interleukin-12 receptor β1 (IL-12Rβ1) deficiency is a recessive defect predisposing to infections mainly with Salmonella and mycobacteria with a mortality around 30%. IL-12Rβ1 accounts for about half of all cases of Mendelian susceptibility to mycobacterial disease reported worldwide. We identified 10 patients. The United States has a low consanguinity rate, low tuberculosis rate and BCG vaccination, all factors that might affect clinical presentation

Methods

Serie of cases

Results

Pt

mutation

Infections/age

Outcome

age

1

c.512A>C, p.Q171P c.1442A>G, p.Y481C

MAC/5

Died (10 years)

Disseminated MAC

2

c.512A>C, p.Q171P c.1442A>G, p.Y481C 


Extrapulmonary Histoplasma/27

MAC/47

Alive (50 years)

3

Homozygous

c.1495C>T p.Q499X

Extrapulmonary TB/4

Burkholderia vietenamiensis/41

Died (42 years)

HLH

4.I

c.1398G>A pW466X

c1623-1624delGCinsTT

MAC/1

Alive( 9 years)

Infection resolved

Graft failure

4.II

c.1398G>A W466X

c1623-1624delGCinsTT

Asymptomatic

Alive (17 years)

asymptomatic

5

Homozygous

c94C>T, p.Q32X

Bordetella hinzii/18

Alive (24 years)

Infection resolved

6

Homozygous

c.1623_1624delGCinsTT p Q542X

Coccidioides/14

Alive (24years)

persistent infection

7.I*

Homozygous

557G>A

C186Y

Salmonella/11yrs;

Coccidioides/22

Alive (25 years)

Infections resolved

(25years)

7.II*

Homozygous

557G>A

C186Y

Coccidioides/6

Alive (21years)Infection resolved

8**

1623-1624delinsTT

p Q541X

S. pneumoniae

MAC /1.5

Alive

Persistent infection

* Clin Infect Dis. 2011 Feb 15;52(4)

** J Allergy Clin Immunol. 2010 Jan;125(1):264-5

4I & 4II ; 8I & 8II siblings

Conclusions

In the United States IL-12Rβ1 deficiency is associated with disseminated infections including unusual organisms. US IL-12Rβ1 deficiency is likely underrecognized in part because of presentations with infections other than mycobacteria.

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