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Severe combined immunodeficiency due to CARD11 deficiency(IMD11A)

MedGen UID:
767600
•Concept ID:
C3554686
•
Disease or Syndrome
Synonyms: IMD11A; Immunodeficiency 11; IMMUNODEFICIENCY 11A
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): CARD11 (7p22.2)
 
Monarch Initiative: MONDO:0014081
OMIM®: 615206
Orphanet: ORPHA357237

Definition

Immunodeficiency-11A is an autosomal recessive primary immunodeficiency characterized by normal numbers of T and B lymphocytes, but defective intracellular signaling. There is a block in B-cell differentiation with increased numbers of transitional B cells and hypogammaglobulinemia, as well as decreased numbers of regulatory T cells and defects in T-cell function (summary by Greil et al., 2013 and Stepensky et al., 2013). [from OMIM]

Clinical features

From HPO
Recurrent respiratory infections
MedGen UID:
812812
•Concept ID:
C3806482
•
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
See: Feature record | Search on this feature
Agammaglobulinemia
MedGen UID:
168
•Concept ID:
C0001768
•
Disease or Syndrome
A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured.
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
Monocytopenia
MedGen UID:
507013
•Concept ID:
C0427544
•
Finding
An decreased number of circulating monocytes.
See: Feature record | Search on this feature
Pneumocystosis
MedGen UID:
777048
•Concept ID:
C1535939
•
Disease or Syndrome
An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific
See: Feature record | Search on this feature
Decreased circulating antibody level
MedGen UID:
892481
•Concept ID:
C4048270
•
Finding
An abnormally decreased level of immunoglobulin in blood.
See: Feature record | Search on this feature
Reduced antigen-specific T cell proliferation
MedGen UID:
1621145
•Concept ID:
C4531148
•
Finding
Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus.
See: Feature record | Search on this feature
Decreased proportion of CD4+CD25+ regulatory T cells
MedGen UID:
1688709
•Concept ID:
C5139086
•
Finding
An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSevere combined immunodeficiency due to CARD11 deficiency
Follow this link to review classifications for Severe combined immunodeficiency due to CARD11 deficiency in Orphanet.

Recent clinical studies

Etiology

Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11).
Dadi H, Jones TA, Merico D, Sharfe N, Ovadia A, Schejter Y, Reid B, Sun M, Vong L, Atkinson A, Lavi S, Pomerantz JL, Roifman CM
J Allergy Clin Immunol 2018 May;141(5):1818-1830.e2. Epub 2017 Aug 19 doi: 10.1016/j.jaci.2017.06.047. PMID: 28826773
Primary Immunodeficiencies Associated with EBV Disease.
Cohen JI
Curr Top Microbiol Immunol 2015;390(Pt 1):241-65. doi: 10.1007/978-3-319-22822-8_10. PMID: 26424649Free PMC Article

Diagnosis

Clinical and Immunological Features of Human BCL10 Deficiency.
Garcia-Solis B, Van Den Rym A, Pérez-Caraballo JJ, Al-Ayoubi A, Alazami AM, Lorenzo L, Cubillos-Zapata C, López-Collazo E, Pérez-Martínez A, Allende LM, Markle J, Fernández-Arquero M, Sánchez-Ramón S, Recio MJ, Casanova JL, Mohammed R, Martinez-Barricarte R, Pérez de Diego R
Front Immunol 2021;12:786572. Epub 2021 Nov 12 doi: 10.3389/fimmu.2021.786572. PMID: 34868072Free PMC Article
Progressive B cell depletion in human MALT1 deficiency.
Sonoda M, Ishimura M, Eguchi K, Yada Y, Lenhartová N, Shiraishi A, Tanaka T, Sakai Y, Ohga S
Clin Exp Immunol 2021 Dec;206(3):237-247. Epub 2021 Oct 7 doi: 10.1111/cei.13662. PMID: 34559885Free 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
Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency.
Greil J, Rausch T, Giese T, Bandapalli OR, Daniel V, Bekeredjian-Ding I, Stütz AM, Drees C, Roth S, Ruland J, Korbel JO, Kulozik AE
J Allergy Clin Immunol 2013 May;131(5):1376-83.e3. Epub 2013 Apr 3 doi: 10.1016/j.jaci.2013.02.012. PMID: 23561803

Clinical prediction guides

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease.
Dorjbal B, Stinson JR, Ma CA, Weinreich MA, Miraghazadeh B, Hartberger JM, Frey-Jakobs S, Weidinger S, Moebus L, Franke A, Schäffer AA, Bulashevska A, Fuchs S, Ehl S, Limaye S, Arkwright PD, Briggs TA, Langley C, Bethune C, Whyte AF, Alachkar H, Nejentsev S, DiMaggio T, Nelson CG, Stone KD, Nason M, Brittain EH, Oler AJ, Veltri DP, Leahy TR, Conlon N, Poli MC, Borzutzky A, Cohen JI, Davis J, Lambert MP, Romberg N, Sullivan KE, Paris K, Freeman AF, Lucas L, Chandrakasan S, Savic S, Hambleton S, Patel SY, Jordan MB, Theos A, Lebensburger J, Atkinson TP, Torgerson TR, Chinn IK, Milner JD, Grimbacher B, Cook MC, Snow AL
J Allergy Clin Immunol 2019 Apr;143(4):1482-1495. Epub 2018 Aug 28 doi: 10.1016/j.jaci.2018.08.013. PMID: 30170123Free PMC Article
Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.
Fuchs S, Rensing-Ehl A, Pannicke U, Lorenz MR, Fisch P, Jeelall Y, Rohr J, Speckmann C, Vraetz T, Farmand S, Schmitt-Graeff A, Krüger M, Strahm B, Henneke P, Enders A, Horikawa K, Goodnow C, Schwarz K, Ehl S
Blood 2015 Oct 1;126(14):1658-69. Epub 2015 Aug 19 doi: 10.1182/blood-2015-03-631374. PMID: 26289640Free 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

    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
    • PubMed (OMIM)
      Related literature resources in PubMed

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