Combined immunodeficiency
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Immunodeficiency Main Page |
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
| Combined Immunodeficiency Diseases with associated or syndromic features | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital thromocytopenia | DNA Repair Defects | Immuno-osseous dysplasias | Thymic Defects with additional congenital anomalies | Hyper-IgE syndromes(HIES) | Dyskeratosis congenita (DKC) | Defects of Vitamin B12 and Folate metabolism | Anhidrotic Ectodermodysplasia with ID | Others | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wiskott Aldrich Syndrome | Ataxia telangiectasia | Cartilage Hair Hypoplasia | DiDeorge Syndrome | Job Syndrome | Dyskeratosis congenita | Transcobalmin 2 deficiency | NEMO deficiency | Purine nucleoside phosphorylase deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| XL thrombocytopenia | Nijmegen breakage Syndrome | Schimke Syndrome | TBX1 deficiency | Comel Netherton Syndrome | COATS plus syndrome | Deficiency causing hereditary folate malabsorption | EDA-ID due to IKBA GOF mutation | ID with multiple intestinal atresias | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| WIP deficiency | Bloom syndrome | MYSM1 deficiency | Chromosome 10p13-p14 deletion Syndrome | PGM3 deficiency | SAMD9 | Methylene-tetrahydrofolate-dehydrogenase 1 deficiency | Hepatic veno-occlusive disease with immunodeficiency | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ARPC1B deficiency | PMS2 deficiency | MOPD1 deficiency | CHARGE Syndrome | SAMD9L | Vici Syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Immunodeficiency with centromeric instability and facial anomalies(ICF1, ICF2, ICF3, ICF4) | EXTL3 deficiency | HOIL1 deficiency, HOIP1 deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| MCM4 deficiency | Calcium Channel Defects(ORAI-1 deficiency, STIM1 deficiency) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RNF168 deficiency | Hennekam-lymphangiectasia-lymphedema syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| POLE1 deficiency | STAT5b deficiency | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| POLE2 deficiency | Kabuki Syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| NSMCE3 deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ERCC6L2(Hebo deficiency) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ligase 1 deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GINS1 deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wiskott-Aldrich Syndrome
Wiskott–Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency disorder characterized by the triad of eczema, microthrombocytopenia, and severe and often recurrent infections caused by mutation of WASp gene.[1]
- WASp is involved in actin polymerization and associated coupling of receptor engagement, signaling events, and cytoskeletal rearrangement[2]
Allogeneic stem cell transplantation is the only curative treatment for Wiskott-Aldrich syndrome[3]
*X-linked thrombocytopenia (XLT), sometimes associated with mild eczema and/or infections, was recognized in the 1960s and was suspected to be a variant of WAS.patients with XLT shown to have mutations in the Wiskott-Aldrich syndrome protein gene (WAS).
X-linked thrombocytopenia (XLT) should be suspected in a male with:
- Congenital thrombocytopenia (5,000-50,000 platelets/mm3)
- Small platelet size (platelet volume <7.5 fL)
- Absence of other clinical findings of Wiskott-Aldrich syndrome
- Family history of one or more maternally related males with a WAS-related phenotype or disorder
- Decreased or absent WASP by flow cytometry or western blotting
- Some affected individuals have near-normal amounts of WAS
WIP DEFICIENCY*WISKOTT-ALDRICH SYNDROME PROTEIN-INTERACTING PROTEIN; gene :WIPF1,Cytogenetic location: 2q31.1 .phenotype :?Wiskott-Aldrich syndrome 2 In T lymphocytes, WASP is almost totally complexed with the WASP-interacting protein (WIP). A major function of WIP is to stabilize WASP and prevent its degradation. WASP protein levels, but not mRNA levels, are severely reduced in T cells [4]
References
- ↑ Buchbinder D, Nugent DJ, Fillipovich AH (2014). "Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments". Appl Clin Genet. 7: 55–66. doi:10.2147/TACG.S58444. PMC 4012343. PMID 24817816.
- ↑ Buchbinder D, Nugent DJ, Fillipovich AH (2014). "Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments". Appl Clin Genet. 7: 55–66. doi:10.2147/TACG.S58444. PMC 4012343. PMID 24817816.
- ↑ Muñoz A, Olivé T, Martinez A, Bureo E, Maldonado MS, Diaz de Heredia C, Sastre A, Gonzalez-Vicent M (September 2007). "Allogeneic hemopoietic stem cell transplantation (HSCT) for Wiskott-Aldrich syndrome: a report of the Spanish Working Party for Blood and Marrow Transplantation in Children (GETMON)". Pediatr Hematol Oncol. 24 (6): 393–402. doi:10.1080/08880010701454404. PMID 17710656.
- ↑ Pawłowski R (1991). "Distribution of common phenotypes of sperm diaphorase (DIA3) in the Polish population". Hum. Hered. 41 (4): 279–80. doi:10.1159/000154013. PMID 1783416.