DISEASE: Roifman-Chitayat syndrome

Entry

H02585                      Disease

Name

Roifman-Chitayat syndrome

Description

Roifman-Chitayat syndrome (ROCHIS) is a combined immunodeficiency, characterized by facial dysmorphism, optic nerve atrophy, skeletal anomalies, myoclonic seizures, and substantial developmental delays. It has been reported that dual loss of PIK3CD and KNSTRN expression causes this syndrome.

Category

Immune system disease

Brite

Human diseases [BR:br08402]
Immune system diseases
  Primary immunodeficiency
   H02585  Roifman-Chitayat syndrome
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
  Primary immunodeficiencies
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H02585  Roifman-Chitayat syndrome

Gene

PIK3CD [HSA:5293] [KO:K00922]
KNSTRN [HSA:90417] [KO:K26097]

Other DBs

ICD-11:

4A01.1Y

ICD-10:

D81.1

OMIM:

613328

Reference

PMID:19863561

Authors

Roifman CM, Chitayat D

Title

Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome.

Journal

Clin Genet 76:449-57 (2009)
DOI:10.1111/j.1399-0004.2009.01239.x

Reference

PMID:29180244

Authors

Sharfe N, Karanxha A, Dadi H, Merico D, Chitayat D, Herbrick JA, Freeman S, Grinstein S, Roifman CM

Title

Dual loss of p110delta PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features.

Journal

J Allergy Clin Immunol 142:618-629 (2018)
DOI:10.1016/j.jaci.2017.10.033

» Japanese version

All links

Disease (1)   
   OMIM (1)   
Gene (4)   
   KEGG ORTHOLOGY (2)   
   KEGG GENES (2)   
Literature (2)   
   PubMed (2)   
All databases (7)   

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