Neutrophil immunodeficiency syndrome

Neutrophil immunodeficiency syndrome
Specialty	Immunology
Frequency	<1 / 1 000 000^[1]

Neutrophil immunodeficiency syndrome is a condition caused by mutations in the Rac2 gene.^[2]

See also

References

^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Neutrophil immunodeficiency syndrome". www.orpha.net. Retrieved 18 March 2019.{{cite web}}: CS1 maint: numeric names: authors list (link)
^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.

External links

Diseases of monocytes and granulocytes

Monocytes and macrophages

↑

-cytosis:	Monocytosis Histiocytosis Chronic granulomatous disease

↓

-penia:	Monocytopenia

↑

-cytosis:	granulocytosis Neutrophilia Eosinophilia/Hypereosinophilic syndrome Basophilia Bandemia

↓

-penia:	Granulocytopenia/agranulocytosis (Neutropenia/Severe congenital neutropenia/Cyclic neutropenia Eosinopenia Basopenia)

Disorder of phagocytosis

Chemotaxis and degranulation	Leukocyte adhesion deficiency LAD1 LAD2 Chédiak–Higashi syndrome Neutrophil-specific granule deficiency
Respiratory burst	Chronic granulomatous disease Neutrophil immunodeficiency syndrome Myeloperoxidase deficiency

Deficiencies of intracellular signaling peptides and proteins

GTP-binding protein regulators

GTPase-activating protein	Neurofibromatosis type I Watson syndrome Tuberous sclerosis
Guanine nucleotide exchange factor	Marinesco–Sjögren syndrome Aarskog–Scott syndrome Juvenile primary lateral sclerosis X-linked intellectual disability 1

Heterotrimeic	cAMP/GNAS1: Pseudopseudohypoparathyroidism Progressive osseous heteroplasia Pseudohypoparathyroidism Albright's hereditary osteodystrophy McCune–Albright syndrome CGL 2
Monomeric	RAS: HRAS Costello syndrome KRAS Noonan syndrome 3 KRAS Cardiofaciocutaneous syndrome RAB: RAB7 Charcot–Marie–Tooth disease RAB23 Carpenter syndrome RAB27 Griscelli syndrome type 2 RHO: RAC2 Neutrophil immunodeficiency syndrome ARF: SAR1B Chylomicron retention disease ARL13B Joubert syndrome 8 ARL6 Bardet–Biedl syndrome 3

Cardiofaciocutaneous syndrome

Other kinase/phosphatase

Tyrosine kinase	BTK X-linked agammaglobulinemia ZAP70 ZAP70 deficiency
Serine/threonine kinase	RPS6KA3 Coffin-Lowry syndrome CHEK2 Li–Fraumeni syndrome 2 IKBKG Incontinentia pigmenti STK11 Peutz–Jeghers syndrome DMPK Myotonic dystrophy 1 ATR Seckel syndrome 1 GRK1 Oguchi disease 2 WNK4/WNK1 Pseudohypoaldosteronism 2
Tyrosine phosphatase	PTEN Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Cowden syndrome Proteus-like syndrome MTM1 X-linked myotubular myopathy PTPN11 Noonan syndrome 1 LEOPARD syndrome Metachondromatosis

Signal transducing adaptor proteins

Other

NF2
- Neurofibromatosis type II
Notch 3
- CADASIL
PRKAR1A
- Carney complex
PRKAG2
- Wolff–Parkinson–White syndrome
PRKCSH
- PRKCSH Polycystic liver disease
XIAP
- XIAP2

See also intracellular signaling peptides and proteins

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