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] References
↑ Yigal Dror & Melvin H. Freedman (2002). "Shwachman-diamond syndrome". British journal of haematology 118 (3): 701–713. PMID 12181037 .↑ 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 .↑ 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 .↑ 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 .↑ 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 .