- Neutrophil immunodeficiency syndrome
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Neutrophil immunodeficiency syndrome Classification and external resources OMIM 608203 Neutrophil immunodeficiency syndrome is a condition caused by mutations in the Rac2 gene.[1]
See also
- Immunodeficiency with hyper-IgM
- List of cutaneous conditions
- Chronic granulomatous disease
References
Hematologic disease: Monocyte and granulocyte disease (CFU-GM/CFU-Baso/CFU-Eos), including immunodeficiency (D70-D71, 288) Monocytes/
macrophages↑↓Granulocytes ↑↓PBD chemotaxis/degranulation: Leukocyte adhesion deficiency (LAD1, LAD2) · Chédiak–Higashi syndrome
respiratory burst: (Chronic granulomatous disease, Neutrophil immunodeficiency syndrome, Myeloperoxidase deficiency)Deficiencies of intracellular signaling peptides and proteins GTP-binding protein regulators GTPase-activating proteinMarinesco–Sjögren syndrome · Aarskog–Scott syndrome · Juvenile primary lateral sclerosis · X-Linked mental retardation 1G protein cAMP/GNAS1: Pseudopseudohypoparathyroidism · Progressive osseous heteroplasia · Pseudohypoparathyroidism · Albright's hereditary osteodystrophy · McCune–Albright syndrome
CGL 2RAS: 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)MAP kinase Other kinase/phosphatase 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)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) · NOTCH3 (CADASIL) · PRKAR1A (Carney complex) · PRKAG2 (Wolff–Parkinson–White syndrome) · PRKCSH (PRKCSH Polycystic liver disease) · XIAP (XIAP2)see also intracellular signaling peptides and proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfkCategories:- Dermatology stubs
- Noninfectious immunodeficiency-related cutaneous conditions
- Congenital defects of phagocyte number, function, or both
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