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Combined immunodeficiency due to MALT1 deficiency(IMD12)

MedGen UID:
815913
•Concept ID:
C3809583
•
Disease or Syndrome
Synonym: Immunodeficiency 12
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): MALT1 (18q21.32)
 
Monarch Initiative: MONDO:0014197
OMIM®: 615468
Orphanet: ORPHA397964

Definition

Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections. [from ORDO]

Clinical features

From HPO
Growth delay
MedGen UID:
99124
•Concept ID:
C0456070
•
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
See: Feature record | Search on this feature
Osteoporosis
MedGen UID:
14535
•Concept ID:
C0029456
•
Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
See: Feature record | Search on this feature
Delayed skeletal maturation
MedGen UID:
108148
•Concept ID:
C0541764
•
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Recurrent viral infections
MedGen UID:
332357
•Concept ID:
C1837066
•
Finding
Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.
See: Feature record | Search on this feature
Recurrent bacterial infections
MedGen UID:
334943
•Concept ID:
C1844383
•
Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCombined immunodeficiency due to MALT1 deficiency
Follow this link to review classifications for Combined immunodeficiency due to MALT1 deficiency in Orphanet.

Recent clinical studies

Etiology

Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome.
Charbit-Henrion F, Jeverica AK, Bègue B, Markelj G, Parlato M, Avčin SL, Callebaut I, Bras M, Parisot M, Jazbec J, Homan M, Ihan A, Rieux-Laucat F, Stolzenberg MC, Ruemmele FM, Avčin T, Cerf-Bensussan N; GENIUS Group
J Pediatr Gastroenterol Nutr 2017 Mar;64(3):378-384. doi: 10.1097/MPG.0000000000001262. PMID: 27253662
The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency.
Turvey SE, Durandy A, Fischer A, Fung SY, Geha RS, Gewies A, Giese T, Greil J, Keller B, McKinnon ML, Neven B, Rozmus J, Ruland J, Snow AL, Stepensky P, Warnatz K
J Allergy Clin Immunol 2014 Aug;134(2):276-84. doi: 10.1016/j.jaci.2014.06.015. PMID: 25087226Free PMC Article

Diagnosis

Germline CBM-opathies: From immunodeficiency to atopy.
Lu HY, Biggs CM, Blanchard-Rohner G, Fung SY, Sharma M, Turvey SE
J Allergy Clin Immunol 2019 May;143(5):1661-1673. doi: 10.1016/j.jaci.2019.03.009. PMID: 31060714
Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire.
Frizinsky S, Rechavi E, Barel O, Najeeb RH, Greenberger S, Lee YN, Simon AJ, Lev A, Ma CA, Sun G, Blackstone SA, Milner JD, Somech R, Stauber T
J Clin Immunol 2019 May;39(4):401-413. Epub 2019 Apr 29 doi: 10.1007/s10875-019-00629-0. PMID: 31037583
Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation.
Punwani D, Wang H, Chan AY, Cowan MJ, Mallott J, Sunderam U, Mollenauer M, Srinivasan R, Brenner SE, Mulder A, Claas FH, Weiss A, Puck JM
J Clin Immunol 2015 Feb;35(2):135-46. Epub 2015 Jan 28 doi: 10.1007/s10875-014-0125-1. PMID: 25627829Free PMC Article
The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency.
Turvey SE, Durandy A, Fischer A, Fung SY, Geha RS, Gewies A, Giese T, Greil J, Keller B, McKinnon ML, Neven B, Rozmus J, Ruland J, Snow AL, Stepensky P, Warnatz K
J Allergy Clin Immunol 2014 Aug;134(2):276-84. doi: 10.1016/j.jaci.2014.06.015. PMID: 25087226Free PMC Article
Advances in basic and clinical immunology in 2013.
Chinen J, Notarangelo LD, Shearer WT
J Allergy Clin Immunol 2014 Apr;133(4):967-76. Epub 2014 Feb 28 doi: 10.1016/j.jaci.2014.01.026. PMID: 24589342Free PMC Article

Clinical prediction guides

Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency.
Sefer AP, Abolhassani H, Ober F, Kayaoglu B, Bilgic Eltan S, Kara A, Erman B, Surucu Yilmaz N, Aydogmus C, Aydemir S, Charbonnier LM, Kolukisa B, Azizi G, Delavari S, Momen T, Aliyeva S, Kendir Demirkol Y, Tekin S, Kiykim A, Baser OF, Cokugras H, Gursel M, Karakoc-Aydiner E, Ozen A, Krappmann D, Chatila TA, Rezaei N, Baris S
J Clin Immunol 2022 Apr;42(3):634-652. Epub 2022 Jan 26 doi: 10.1007/s10875-021-01191-4. PMID: 35079916
Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation.
Punwani D, Wang H, Chan AY, Cowan MJ, Mallott J, Sunderam U, Mollenauer M, Srinivasan R, Brenner SE, Mulder A, Claas FH, Weiss A, Puck JM
J Clin Immunol 2015 Feb;35(2):135-46. Epub 2015 Jan 28 doi: 10.1007/s10875-014-0125-1. PMID: 25627829Free PMC Article
Advances in basic and clinical immunology in 2013.
Chinen J, Notarangelo LD, Shearer WT
J Allergy Clin Immunol 2014 Apr;133(4):967-76. Epub 2014 Feb 28 doi: 10.1016/j.jaci.2014.01.026. PMID: 24589342Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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