Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Immunodeficiency 68

Immunodeficiency 68 is an autosomal recessive disorder caused by mutations of the MYD88 gene.

Systematic

Primary immunodeficiency
Achondroplasia-SCID syndrome
Autoinflammation, antibody deficiency, and immune dysregulation syndrome
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Disposition to infections
IRAK4 deficiency
Immunodeficiency 20
Immunodeficiency 21
Immunodeficiency 31A
Immunodeficiency 31B
Immunodeficiency 31C
Immunodeficiency 33
Immunodeficiency 38
Immunodeficiency 41
Immunodeficiency 51
Immunodeficiency 68
MYD88
Immunodeficiency 69
Immunodeficiency 74, COVID19-related
Immunodeficiency-centromeric instability-facial anomalies syndrome
Variable immunodeficiency type 7
Vasculitis due to ADA2 deficiency
Wiskott–Aldrich syndrome

References:

1.

von Bernuth H et al. (2008) Pyogenic bacterial infections in humans with MyD88 deficiency.

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2.

Conway DH et al. (2010) Myeloid differentiation primary response gene 88 (MyD88) deficiency in a large kindred.

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3.

Picard C et al. (2010) Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.

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4.

Platt CD et al. (2019) A novel truncating mutation in MYD88 in a patient with BCG adenitis, neutropenia and delayed umbilical cord separation.

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Update: Nov. 3, 2022
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