Congenital defects of phagocytes
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Immunodeficiency Main Page |
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]
Overview
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 out the linked page cystic fibrosis.