Congenital defects of phagocytes

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Immunodeficiency Main Page




Immunodeficiency Affecting Cellular and Humoral Immunity

Combined Immunodeficiency

Predominantly Antibody Deficiency

Diseases of Immune Dysregulation

Congenital Defects of Phagocytes

Defects in Intrinsic and Innate Immunity

Auto-inflammatory Disorders

Complement Deficiencies

Phenocopies of Primary Immunodeficiency

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ali Akram, M.B.B.S.[2], Anmol Pitliya, M.B.B.S. M.D.[3]


Phagocytes are crucial to the immune system as they have the ability to ingest and kill foreign pathogens encountered by the body. In congenital phagocyte cell defects, the ability of phagocytes to kill foreign pathogens is impaired, leading to widespread infections. Congenital defects of phagocytes can be divided into two types including defects of phagocyte number and defects of phagocyte function.


Congenital defects of Phagocyte
Congenital defects of phagocyte number
Congenital defects of phagocyte function

Congeital Defects of Phagocyte Number

Congenital defects of phagocyte number
Syndrome associated
No syndrome associated
Shwachman-Diamond syndrome
Elastase deficiency (SCN1)
G6PC3 deficiency (SCN4)
HAX1 deficiency (Kostmann Disease) (SCN3)
Glycogen storage disease type 1b
GFI 1 deficiency (SCN2)
Cohen syndrome
X-linked neutropenia/myelodysplasia WAS GOF
Barth Syndrome
G-CSF receptor deficiency
Clericuzio syndrome (poikiloderma with neutropenia)
Neutropenia with combined immune deficiency
VPS45 deficiency(SCN5)
P14/LAMTOR2 deficiency
JAGN1 deficiency
3-methylglutaconic aciduria
SMARCD2 deficiency
WDR1 deficiency
HYOU1 deficiency

Congenital defects of phagocyte function

Congenital defects of phagocyte function
Syndrome associated
No Syndrome associated;DHR assay(or NBT test)?
Cystic Fibrosis
GATA2 def (MonoMac syndrome
Chronic granulomatous disease
Localized juvenile periodontitis
Specific granule deficiency
Rac 2 deficiency
Pulmonary alveolar proteinosis
Glucose-6-phosphate dehydrogenase deficiency Class 1
Leukocyte adhesion deficiency

Shwachman-Diamond Syndrome

For more information on Shwachman-Diamond syndrome, click here.

G6PC3 deficiency

  • Autosomal recessive (AR) transmission.[5]
  • G6PC3 stands for glucose-6-phosphatase catalytic 3.
  • It is caused by homozygous mutation in the G6PC3 gene on chromosome 17.
  • Patients present with congenital neutropenia, cardiac abnormalities, inner ear deafness, neonatal sepsis and a prominent superficial venous pattern.

Glycogen storage disease type 1b

For more information on glycogen storage disease type 1b, click here.

Cohen Syndrome

For more information on Cohen Syndrome, click here.

Barth Syndrome

For more information on Barth Syndrome, click here.

Clericuzio syndrome (poikiloderma with neutropenia)

VPS45 deficiency

P14/LAMTOR2 deficiency

JAGN1 deficiency

  • JAGN stands for jagunal drosophila homolog of 1.
  • Autosomal recessive (AR) transmission.[13]
  • Patients present with aberrant myeloid cell homeostasis and congenital neutropenia.

3-Methylglutaconic aciduria

For more information on 3-methylglutaconic aciduria, click here.

SMARCD2 deficiency

WDR1 deficiency

HYOU1 deficiency

Elastase deficiency (Severe Congenital Neutropenia 1)

HAX1 deficiency (Kostmann Disease) (Severe Congenital Neutropenia 3)

GFI 1 deficiency

  • Autosomal dominant (AD) transmission.
  • GFI 1 stands for growth-factor independent 1.
  • B and T cell lymphopenia is the major feature of this disease.

X-linked neutropenia/myelodysplasia WAS GOF

G-CSF (Growth-colony stimulating factor) receptor deficiency

Neutropenia with combined immune deficiency

Cystic fibrosis

For more information about cystic fibrosis, click here.


Localized juvenile periodontitis

  • It is cause by a mutation in the FPR1 gene.
  • The fMLP receptor (FPR1) of phagocytic cells interacts with bacterial fMLP and mediates chemotaxis, degranulation, and superoxide production.


  • It is cause by a mutation in the ACTB gene.
  • Patients usually develop mental retardation.

Leukocyte adhesion deficiency

For more information about leukocyte adhesion deficiency, click here.

GATA2 def (MonoMac syndrome)

Specific granule deficiency

Pulmonary alveolar proteinosis

For more information about pulmonary alveolar proteinosis, click here.

Chronic granulomatous disease (CGD)

For detailed information about chronic granulomatous disease, click here.

Rac 2 deficiency

Glucose-6-phosphate dehydrogenase deficiency (G6PD) Class 1

For detailed information about glucose-6-phosphate dehydrogenase deficiency, click here.


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