Мы используем файлы cookie.
Продолжая использовать сайт, вы даете свое согласие на работу с этими файлами.

Neutrophil immunodeficiency syndrome

Другие языки:

Neutrophil immunodeficiency syndrome

Подписчиков: 0, рейтинг: 0

Neutrophil immunodeficiency syndrome
Specialty	Immunology
Frequency	<1 / 1 000 000

Neutrophil immunodeficiency syndrome is a condition caused by mutations in the Rac2 gene.

External links

↑

	Monocytosis Histiocytosis Chronic granulomatous disease

↓

	Monocytopenia

↑

	granulocytosis Neutrophilia Eosinophilia/Hypereosinophilic syndrome Basophilia Bandemia

↓

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

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

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

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

Other

See also intracellular signaling peptides and proteins

Classification	D ICD-10: D71 OMIM: 608203 MeSH: C564275 SNOMED CT: 723443003
External resources	Orphanet: 183707