Congenital defects of phagocytes

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Overview
Classification
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]

Classification

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

methylglutacoic 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

Normal

Abnormal

Papillion-Lefèvre

GATA2 def (MonoMac syndrome

CGD

Localized juvenile periodontitis

Specific granule deficiency

Rac 2 deficiency

B-Actin

Pulmonary alveolar proteinosis

G6PD def Class 1

Leukocyte adhesion deficiency

Shwachman-Diamond Syndrome

• Autosomal Recessive(AR) transmission.
• It is caused by compound heterozygous or homozygous mutations in the SBDS gene on chromosome 7.
• Patients present with exocrine pancreatic dysfunction, bony metaphyseal dysostosis, and pancytopenias.
• CT scan can be useful in the diagnosis.

G6PC3 deficiency

• Autosomal recessive(AR) transmission.
• 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

• Autosomal recessive(AR) transmission.
• It is caused by homozygous or compound heterozygous mutation in the G6PT1 gene which encodes glucose-6-phosphate translocase, on chromosome 11.
• Patients present with short stature, hepatomegaly, hypertension, eruptive xanthoma and hyperlipidemia.

Cohen Syndrome

• Autosomal recessive(AR) transmission.
• It is caused by homozygous or compound heterozygous mutations in the COH1 gene on chromosome 8.
• Patients present with nonprogressive psychomotor retardation, motor clumsiness, microcephaly, high-arched eyelids, short philtrum, thick hair, low hairline, hypotonia, hyperextensibility of the joints, retinochoroidal dystrophy, myopia, and granulocytopenia.

Barth Syndrome

• X-linked recessive transmission.
• It is caused by mutation in the tafazzin gene (TAZ) on chromosome X.
• Patients present with dilated cardiomyopathy, a predominantly proximal skeletal myopathy, growth retardation, organic aciduria, and neutropenia.