IRAK4 deficiency

IRAK4 deficiency is an autosomal recessive disorder caused by mutations of the IRAK4 gene and characterized by immunodeficy and susceptibility to various infections.

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
		IRAK4
	Immunodeficiency 20
	Immunodeficiency 21
	Immunodeficiency 31A
	Immunodeficiency 31B
	Immunodeficiency 31C
	Immunodeficiency 33
	Immunodeficiency 38
	Immunodeficiency 41
	Immunodeficiency 51
	Immunodeficiency 68
	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.	Singh A et al. (2009) Impaired priming and activation of the neutrophil NADPH oxidase in patients with IRAK4 or NEMO deficiency.

2.	Hoarau C et al. (2007) TLR9 activation induces normal neutrophil responses in a child with IRAK-4 deficiency: involvement of the direct PI3K pathway.

3.	Haraguchi S et al. (1998) Interleukin 12 deficiency associated with recurrent infections.

4.	Picard C et al. (2003) Pyogenic bacterial infections in humans with IRAK-4 deficiency.

5.	Day N et al. (2004) Interleukin receptor-associated kinase (IRAK-4) deficiency associated with bacterial infections and failure to sustain antibody responses.

6.	Ku CL et al. (2007) Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity.

Update: June 23, 2025

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