Congenital defects of phagocytes

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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(XLR) 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.

Clericuzio syndrome (poikiloderma with neutropenia)

• Autosomal recessive(AR) transmission.
• It is caused by homozygous or compound heterozygous mutation in the USB1 gene on chromosome 16.
• Patients present with a gradual, centripetally spreading, papular erythematous rash on the limbs during the first year of life. Neutropenia may also be present.

VPS45 deficiency (SCN5)

• Autosomal recessive(AR) transmission.
• It is caused by homozygous mutation in the VPS45 gene on chromosome 1.
• Patients present in childhood with poor weight gain, hepatosplenomegaly, severe infections, hypergammaglobulinemia, nephromegaly due to extramedullary hematopoiesis, and bone marrow fibrosis.

P14/LAMTOR2 deficiency

• Autosomal recessive(AR) transmission.
• Patients present with short stature, hypopigmeted skin, coarse facial features and recurrent bronchopulmonary infections.

JAGN1 deficiency

• Autosomal recessive(AR) transmission.
• Patients present with aberrant myeloid cell homeostasis and congenital neutropenia.

3-Methylglutaconic aciduria

• Autosomal recessive(AR) transmission.
• It is caused by homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11, which leads to by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia.
• Patients present with delayed psychomotor development, congenital neutropenia, brain atrophy, microcephaly, movement disorders and cataracts.

SMARCD2 deficiency

• Autosomal recessive(AR) transmission.
• It is caused by a mutation in the SMARCD2 gene on chromosome 17.
• Patients present with myelodysplasia, bone defects and developmental abnormalities.

WDR1 deficiency

• Autosomal recessive(AR) transmission.
• It is caused by mutation in the WDR1 gene on chromosome 4.
• Patients present with recurrent infections, mild neutropenia, impaired wound healing and severe stomatitis with oral stenosis.

HYOU1 deficiency

• Autosomal recessive (AR) transmission.
• It is caused by mutation in the HYOU1 gene on chromosome 11.
• Patients present with hypoglycemia and infections.

Elastase deficiency (SCN1)

• Autosomal dominant (AD) transmission.
• It is caused by a mutation in the ELANE gene on chromosome 19.
• Patients present with cyclic neutropenia starting in childhood with a cycle of approximately 21 days. Recurrent infections with fever are also common features.
• The mainstay of treatment is giving granulocyte-colony stimulating factor (GCSF or CSF3)

HAX1 deficiency (Kostmann Disease) (SCN3)

• Autosomal recessive (AR) transmission.
• It is caused by homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1.
• Patients present with recurrent bacterial infections and neurologic abnormalities like psychomotor retardation and seizures. Patients are also at increased risk of developing leukemia and myelodysplastic syndrome.

GFI 1 deficiency

• Autosomal dominant (AD) transmission.
• B and T cell lymphopenia is the major feature of this disease.

X-linked neutropenia/myelodysplasia WAS GOF

• X-linked recessive transmission.
• Patients present with myeloid maturation arrest and monocytopenia.

G-CSF receptor deficiency

• Autosomal recessive (AR) transmission.
• It is caused by a mutation on CSF3R gene on chromosome 1.

Neutropenia with combined immune deficiency

• Autosomal recessive (AR) transmission.
• It is caused by a mutation on MKL1 gene on chromosome 22.
• Patients present with lymphopenia and thrombocytopenia.

Cystic fibrosis

• Autosomal recessive(AR) transmission.
• It is caused by homozygous or compound heterozygous mutation in the cystic fibrosis conductance regulator gene (CFTR) on chromosome 7.
• For more information, check the linked page cystic fibrosis.
  

Papillion-Lefèvre

• Autosomal recessive(AR) transmission.
• It is caused by homozygous or compound heterozygous mutation in the cathepsin C gene (CTSC) on chromosome 11.
• Patients present with palmoplantar keratoderma, periodontitis, and premature loss of dentition.
• Treatment with acitretin markedly improves the condition.