Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency(IMD29)

MedGen UID:: 862385
•Concept ID:: C4013948
•: Disease or Syndrome

Synonyms:	IL12B DEFICIENCY; Immunodeficiency 29
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	IL12B (5q33.3)

Monarch Initiative:	MONDO:0013954
OMIM®:	614890
Orphanet:	ORPHA319558

Definition

IMD29 results from autosomal recessive IL12B deficiency and is characterized by undetectable IL12B secretion from leukocytes. IL12B-deficient patients generally present with bacillus Calmette-Guerin (BCG) disease after vaccination in childhood, and at least half also have Salmonella infection. Infections with Mycobacterium tuberculosis and environmental mycobacteria have also been reported in IL12B-deficient patients. The phenotype is relatively mild, and patients have a good prognosis (review by Al-Muhsen and Casanova, 2008). [from OMIM]

Clinical features

From HPO

Immunodeficiency

MedGen UID:: 7034
•Concept ID:: C0021051
•: Disease or Syndrome

Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.

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BCGitis

MedGen UID:: 1684722
•Concept ID:: C5139070
•: Disease or Syndrome

Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.

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Abnormality of the immune system
- BCGitis
- Immunodeficiency

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
- Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

Recent clinical studies

Etiology

Disseminated Mycobacterium simiae Infection in a Patient with Complete IL-12p40 Deficiency.

Mahdaviani SA, Marjani M, Jamee M, Khavandegar A, Ghaffaripour H, Eslamian G, Ghaini M, Eskandarzadeh S, Casanova JL, Bustamante J, Mansouri D, Velayati AA
Iran J Allergy Asthma Immunol 2021 Jun 6;20(3):376-381. doi: 10.18502/ijaai.v20i3.6339. PMID: 34134458

Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.

Prando C, Samarina A, Bustamante J, Boisson-Dupuis S, Cobat A, Picard C, AlSum Z, Al-Jumaah S, Al-Hajjar S, Frayha H, Al-Mousa H, Ben-Mustapha I, Adimi P, Feinberg J, de Suremain M, Jannière L, Filipe-Santos O, Mansouri N, Stephan JL, Nallusamy R, Kumararatne DS, Bloorsaz MR, Ben-Ali M, Elloumi-Zghal H, Chemli J, Bouguila J, Bejaoui M, Alaki E, AlFawaz TS, Al Idrissi E, ElGhazali G, Pollard AJ, Murugasu B, Wah Lee B, Halwani R, Al-Zahrani M, Al Shehri MA, Al-Zahrani M, Bin-Hussain I, Mahdaviani SA, Parvaneh N, Abel L, Mansouri D, Barbouche R, Al-Muhsen S, Casanova JL
Medicine (Baltimore) 2013 Mar;92(2):109-122. doi: 10.1097/MD.0b013e31828a01f9. PMID: 23429356 Free PMC Article

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Diagnosis

Disseminated Mycobacterium simiae Infection in a Patient with Complete IL-12p40 Deficiency.

Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia.

Alodayani AN, Al-Otaibi AM, Deswarte C, Frayha HH, Bouaziz M, AlHelale M, Le Voyer T, Nieto-Patlan A, Rattina V, AlZahrani M, Halwani R, Al Sohime F, Al-Mousa H, Al-Muhsen S, Alhajjar SH, Dhayhi NS, Abel L, Casanova JL, Bin-Hussain I, AlBarrak MS, Al-Jumaah SA, Bustamante J
J Clin Immunol 2018 Apr;38(3):278-282. Epub 2018 Mar 27 doi: 10.1007/s10875-018-0490-2. PMID: 29589181 Free PMC Article

Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.

Impaired interferon gamma-mediated immunity and susceptibility to mycobacterial infection in childhood.

Remus N, Reichenbach J, Picard C, Rietschel C, Wood P, Lammas D, Kumararatne DS, Casanova JL
Pediatr Res 2001 Jul;50(1):8-13. doi: 10.1203/00006450-200107000-00005. PMID: 11420412

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