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]

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.[1]
  • CT scan can be useful in the diagnosis.[2]

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.[3]

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.[4]

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.[5]

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.[6]

References

  1. Yigal Dror & Melvin H. Freedman (2002). "Shwachman-diamond syndrome". British journal of haematology. 118 (3): 701–713. PMID 12181037. Unknown parameter |month= ignored (help)
  2. N. B. Genieser, E. R. Halac, M. A. Greco & H. M. Richards (1982). "Shwachman-Bodian syndrome". Journal of computer assisted tomography. 6 (6): 1191–1192. PMID 7174939. Unknown parameter |month= ignored (help)
  3. Kaan Boztug, Giridharan Appaswamy, Angel Ashikov, Alejandro A. Schaffer, Ulrich Salzer, Jana Diestelhorst, Manuela Germeshausen, Gudrun Brandes, Jacqueline Lee-Gossler, Fatih Noyan, Anna-Katherina Gatzke, Milen Minkov, Johann Greil, Christian Kratz, Theoni Petropoulou, Isabelle Pellier, Christine Bellanne-Chantelot, Nima Rezaei, Kirsten Monkemoller, Noha Irani-Hakimeh, Hans Bakker, Rita Gerardy-Schahn, Cornelia Zeidler, Bodo Grimbacher, Karl Welte & Christoph Klein (2009). "A syndrome with congenital neutropenia and mutations in G6PC3". The New England journal of medicine. 360 (1): 32–43. doi:10.1056/NEJMoa0805051. PMID 19118303. Unknown parameter |month= ignored (help)
  4. T. Kuzuya, A. Matsuda, S. Yoshida, K. Narisawa, K. Tada, T. Saito & M. Matsushita (1983). "An adult case of type Ib glycogen-storage disease. Enzymatic and histochemical studies". The New England journal of medicine. 308 (10): 566–569. doi:10.1056/NEJM198303103081004. PMID 6298622. Unknown parameter |month= ignored (help)
  5. S. Kivitie-Kallio & R. Norio (2001). "Cohen syndrome: essential features, natural history, and heterogeneity". American journal of medical genetics. 102 (2): 125–135. PMID 11477603. Unknown parameter |month= ignored (help)
  6. P. G. Barth, H. R. Scholte, J. A. Berden, J. M. Van der Klei-Van Moorsel, I. E. Luyt-Houwen, E. T. Van 't Veer-Korthof, J. J. Van der Harten & M. A. Sobotka-Plojhar (1983). "An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes". Journal of the neurological sciences. 62 (1–3): 327–355. PMID 6142097. Unknown parameter |month= ignored (help)