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Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias(IMD99)

MedGen UID:
1801342
•Concept ID:
C5676971
•
Disease or Syndrome
Synonym: IMD99
 
Gene (location): CTNNBL1 (20q11.23)
 
Monarch Initiative: MONDO:0030798
OMIM®: 619846

Definition

Immunodeficiency-99 with hypogammaglobulinemia and autoimmune cytopenias (IMD99) is an autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Laboratory studies reveal hypogammaglobulinemia with decreased memory B cells that show impaired class-switch recombination (CSR) and decreased somatic hypermutation (SHM). Due to abnormal antibody production and impaired self-tolerance, patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. There are also defects in the T-cell compartment (Kuhny et al., 2020). [from OMIM]

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
Recurrent sinopulmonary infections
MedGen UID:
339549
•Concept ID:
C1846546
•
Finding
An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.
See: Feature record | Search on this feature
Lymphopenia
MedGen UID:
7418
•Concept ID:
C0024312
•
Disease or Syndrome
A reduced number of lymphocytes in the blood.
See: Feature record | Search on this feature
Autoimmune thrombocytopenia
MedGen UID:
116621
•Concept ID:
C0242584
•
Disease or Syndrome
The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.
See: Feature record | Search on this feature
Lymphadenopathy
MedGen UID:
96929
•Concept ID:
C0497156
•
Disease or Syndrome
Enlargement (swelling) of a lymph node.
See: Feature record | Search on this feature
Absent specific antibody response
MedGen UID:
354937
•Concept ID:
C1863246
•
Finding
Absence of specific immunoglobulins directed against a specific antigen or microorganism.
See: Feature record | Search on this feature
Follicular hyperplasia
MedGen UID:
863170
•Concept ID:
C4014733
•
Finding
Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.
See: Feature record | Search on this feature
Decreased circulating antibody concentration
MedGen UID:
892481
•Concept ID:
C4048270
•
Finding
An abnormally decreased level of immunoglobulin in blood.
See: Feature record | Search on this feature
Decreased proportion of class-switched memory B cells
MedGen UID:
892709
•Concept ID:
C4072925
•
Finding
A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.
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
Vitiligo
MedGen UID:
22677
•Concept ID:
C0042900
•
Disease or Syndrome
Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Who's your data? Primary immune deficiency differential diagnosis prediction via machine learning and data mining of the USIDNET registry.
Méndez Barrera JA, Rocha Guzmán S, Hierro Cascajares E, Garabedian EK, Fuleihan RL, Sullivan KE, Lugo Reyes SO
Clin Immunol 2023 Oct;255:109759. Epub 2023 Sep 9 doi: 10.1016/j.clim.2023.109759. PMID: 37678719

Recent clinical studies

Etiology

Association of Rituximab Use With Adverse Events in Children, Adolescents, and Young Adults.
McAtee CL, Lubega J, Underbrink K, Curry K, Msaouel P, Barrow M, Muscal E, Lotze T, Srivaths P, Forbes LR, Allen C, Bernhardt MB
JAMA Netw Open 2021 Feb 1;4(2):e2036321. doi: 10.1001/jamanetworkopen.2020.36321. PMID: 33533931Free PMC Article
Severe deficiency of switched memory B cells (CD27(+)IgM(-)IgD(-)) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease.
Warnatz K, Denz A, Dräger R, Braun M, Groth C, Wolff-Vorbeck G, Eibel H, Schlesier M, Peter HH
Blood 2002 Mar 1;99(5):1544-51. doi: 10.1182/blood.v99.5.1544. PMID: 11861266

Diagnosis

Who's your data? Primary immune deficiency differential diagnosis prediction via machine learning and data mining of the USIDNET registry.
Méndez Barrera JA, Rocha Guzmán S, Hierro Cascajares E, Garabedian EK, Fuleihan RL, Sullivan KE, Lugo Reyes SO
Clin Immunol 2023 Oct;255:109759. Epub 2023 Sep 9 doi: 10.1016/j.clim.2023.109759. PMID: 37678719

Therapy

Association of Rituximab Use With Adverse Events in Children, Adolescents, and Young Adults.
McAtee CL, Lubega J, Underbrink K, Curry K, Msaouel P, Barrow M, Muscal E, Lotze T, Srivaths P, Forbes LR, Allen C, Bernhardt MB
JAMA Netw Open 2021 Feb 1;4(2):e2036321. doi: 10.1001/jamanetworkopen.2020.36321. PMID: 33533931Free PMC Article

Prognosis

Who's your data? Primary immune deficiency differential diagnosis prediction via machine learning and data mining of the USIDNET registry.
Méndez Barrera JA, Rocha Guzmán S, Hierro Cascajares E, Garabedian EK, Fuleihan RL, Sullivan KE, Lugo Reyes SO
Clin Immunol 2023 Oct;255:109759. Epub 2023 Sep 9 doi: 10.1016/j.clim.2023.109759. PMID: 37678719

Clinical prediction guides

Who's your data? Primary immune deficiency differential diagnosis prediction via machine learning and data mining of the USIDNET registry.
Méndez Barrera JA, Rocha Guzmán S, Hierro Cascajares E, Garabedian EK, Fuleihan RL, Sullivan KE, Lugo Reyes SO
Clin Immunol 2023 Oct;255:109759. Epub 2023 Sep 9 doi: 10.1016/j.clim.2023.109759. PMID: 37678719
Severe deficiency of switched memory B cells (CD27(+)IgM(-)IgD(-)) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease.
Warnatz K, Denz A, Dräger R, Braun M, Groth C, Wolff-Vorbeck G, Eibel H, Schlesier M, Peter HH
Blood 2002 Mar 1;99(5):1544-51. doi: 10.1182/blood.v99.5.1544. PMID: 11861266

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen

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