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Combined immunodeficiency with faciooculoskeletal anomalies(ROCHIS)

MedGen UID:
442377
Concept ID:
C2750068
Disease or Syndrome
Synonyms: COMBINED IMMUNODEFICIENCY, FACIAL DYSMORPHISM, OPTIC NERVE ATROPHY, SKELETAL ANOMALIES, AND DEVELOPMENTAL DELAY; Roifman-Chitayat syndrome; Roifman-Chitayat syndrome, digenic
SNOMED CT: Roifman Chitayat syndrome (770625006); Combined immunodeficiency with faciooculoskeletal anomalies syndrome (770625006)
 
Genes (locations): KNSTRN (15q15.1); PIK3CD (1p36.22)
 
Monarch Initiative: MONDO:0013226
OMIM®: 613328
Orphanet: ORPHA221139

Definition

Roifman-Chitayat syndrome (ROCHIS) is an autosomal recessive digenic disorder characterized by global developmental delay, variable neurologic features such as seizures, ataxia, and optic atrophy, dysmorphic facial features, distal skeletal anomalies, and combined immunodeficiency manifest as recurrent infections (summary by Sharfe et al., 2018). [from OMIM]

Clinical features

From HPO
Ectopic kidney
MedGen UID:
68661
Concept ID:
C0238207
Congenital Abnormality
A developmental defect in which a kidney is located in an abnormal anatomic position.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Dyskinesia
MedGen UID:
8514
Concept ID:
C0013384
Disease or Syndrome
A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Generalized myoclonic seizure
MedGen UID:
892704
Concept ID:
C4021759
Disease or Syndrome
A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.
Arthritis
MedGen UID:
2043
Concept ID:
C0003864
Disease or Syndrome
Inflammation of a joint.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Cone-shaped epiphysis
MedGen UID:
351282
Concept ID:
C1865037
Finding
Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.
Pneumonia
MedGen UID:
10813
Concept ID:
C0032285
Disease or Syndrome
Inflammation of any part of the lung parenchyma.
Lacrimal duct stenosis
MedGen UID:
116054
Concept ID:
C0238300
Finding
Narrowing of a tear duct (lacrimal duct).
Abnormal facial shape
MedGen UID:
98409
Concept ID:
C0424503
Finding
An abnormal morphology (form) of the face or its components.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Underdeveloped supraorbital ridges
MedGen UID:
349384
Concept ID:
C1861869
Congenital Abnormality
Flatness of the supraorbital portion of the frontal bones.
Thin lower lip vermilion
MedGen UID:
378341
Concept ID:
C2053440
Finding
Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective).
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCombined immunodeficiency with faciooculoskeletal anomalies
Follow this link to review classifications for Combined immunodeficiency with faciooculoskeletal anomalies in Orphanet.

Professional guidelines

PubMed

Dinges SS, Amini K, Notarangelo LD, Delmonte OM
Immunol Rev 2024 Mar;322(1):178-211. Epub 2024 Jan 16 doi: 10.1111/imr.13306. PMID: 38228406Free PMC Article
Collins C, Sharpe E, Silber A, Kulke S, Hsieh EWY
J Clin Immunol 2021 Jul;41(5):881-895. Epub 2021 May 13 doi: 10.1007/s10875-021-01059-7. PMID: 33987750Free PMC Article
Lee YN, Frugoni F, Dobbs K, Walter JE, Giliani S, Gennery AR, Al-Herz W, Haddad E, LeDeist F, Bleesing JH, Henderson LA, Pai SY, Nelson RP, El-Ghoneimy DH, El-Feky RA, Reda SM, Hossny E, Soler-Palacin P, Fuleihan RL, Patel NC, Massaad MJ, Geha RS, Puck JM, Palma P, Cancrini C, Chen K, Vihinen M, Alt FW, Notarangelo LD
J Allergy Clin Immunol 2014 Apr;133(4):1099-108. Epub 2013 Nov 28 doi: 10.1016/j.jaci.2013.10.007. PMID: 24290284Free PMC Article

Recent clinical studies

Etiology

Dinges SS, Amini K, Notarangelo LD, Delmonte OM
Immunol Rev 2024 Mar;322(1):178-211. Epub 2024 Jan 16 doi: 10.1111/imr.13306. PMID: 38228406Free PMC Article
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BMC Med 2022 Dec 19;20(1):488. doi: 10.1186/s12916-022-02639-z. PMID: 36529768Free PMC Article
Carbone A, Vaccher E, Gloghini A
Blood 2022 Feb 17;139(7):995-1012. doi: 10.1182/blood.2020005469. PMID: 34469512
Deeks SG, Overbaugh J, Phillips A, Buchbinder S
Nat Rev Dis Primers 2015 Oct 1;1:15035. doi: 10.1038/nrdp.2015.35. PMID: 27188527
Sanford M
Drugs 2012 Mar 5;72(4):525-41. doi: 10.2165/11208590-000000000-00000. PMID: 22356290

Diagnosis

Shah T, Venur VA
Semin Neurol 2023 Dec;43(6):825-832. Epub 2023 Nov 23 doi: 10.1055/s-0043-1776783. PMID: 37995744
Bilginer Y, Ozen S
Curr Opin Pediatr 2022 Apr 1;34(2):229-233. doi: 10.1097/MOP.0000000000001106. PMID: 35081554
Devonshire AL, Makhija M
Allergy Asthma Proc 2019 Nov 1;40(6):465-469. doi: 10.2500/aap.2019.40.4273. PMID: 31690396Free PMC Article
Flinn AM, Gennery AR
Orphanet J Rare Dis 2018 Apr 24;13(1):65. doi: 10.1186/s13023-018-0807-5. PMID: 29690908Free PMC Article
Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM
Orphanet J Rare Dis 2016 Nov 25;11(1):159. doi: 10.1186/s13023-016-0543-7. PMID: 27884168Free PMC Article

Therapy

Gupta SK, Berhe M, Crofoot G, Benson P, Ramgopal M, Sims J, McDonald C, Ruane P, Sanchez WE, Scribner A, Liu SY, VanderVeen LA, Dvory-Sobol H, Rhee MS, Baeten JM, Koenig E
Lancet HIV 2023 Jan;10(1):e15-e23. doi: 10.1016/S2352-3018(22)00291-0. PMID: 36566079
Lockman S, Brummel SS, Ziemba L, Stranix-Chibanda L, McCarthy K, Coletti A, Jean-Philippe P, Johnston B, Krotje C, Fairlie L, Hoffman RM, Sax PE, Moyo S, Chakhtoura N, Stringer JS, Masheto G, Korutaro V, Cassim H, Mmbaga BT, João E, Hanley S, Purdue L, Holmes LB, Momper JD, Shapiro RL, Thoofer NK, Rooney JF, Frenkel LM, Amico KR, Chinula L, Currier J; IMPAACT 2010/VESTED Study Team and Investigators
Lancet 2021 Apr 3;397(10281):1276-1292. doi: 10.1016/S0140-6736(21)00314-7. PMID: 33812487Free PMC Article
Spec A, Powderly WG
Handb Clin Neurol 2018;152:139-150. doi: 10.1016/B978-0-444-63849-6.00011-6. PMID: 29604972
Deeks SG, Overbaugh J, Phillips A, Buchbinder S
Nat Rev Dis Primers 2015 Oct 1;1:15035. doi: 10.1038/nrdp.2015.35. PMID: 27188527
Garg RK
Acta Neurol Scand 2010 Aug;122(2):75-90. Epub 2010 Jan 6 doi: 10.1111/j.1600-0404.2009.01316.x. PMID: 20055767

Prognosis

Shah T, Venur VA
Semin Neurol 2023 Dec;43(6):825-832. Epub 2023 Nov 23 doi: 10.1055/s-0043-1776783. PMID: 37995744
Winer H, Rodrigues GOL, Hixon JA, Aiello FB, Hsu TC, Wachter BT, Li W, Durum SK
Cytokine 2022 Dec;160:156049. Epub 2022 Oct 3 doi: 10.1016/j.cyto.2022.156049. PMID: 36201890
Bilginer Y, Ozen S
Curr Opin Pediatr 2022 Apr 1;34(2):229-233. doi: 10.1097/MOP.0000000000001106. PMID: 35081554
Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM
Orphanet J Rare Dis 2016 Nov 25;11(1):159. doi: 10.1186/s13023-016-0543-7. PMID: 27884168Free PMC Article
Garg RK
Acta Neurol Scand 2010 Aug;122(2):75-90. Epub 2010 Jan 6 doi: 10.1111/j.1600-0404.2009.01316.x. PMID: 20055767

Clinical prediction guides

Donkó Á, Sharapova SO, Kabat J, Ganesan S, Hauck FH, Bergerson JRE, Marois L, Abbott J, Moshous D, Williams KW, Campbell N, Martin PL, Lagresle-Peyrou C, Trojan T, Kuzmenko NB, Deordieva EA, Raykina EV, Abers MS, Abolhassani H, Barlogis V, Milla C, Hall G, Mousallem T, Church J, Kapoor N, Cros G, Chapdelaine H, Franco-Jarava C, Lopez-Lerma I, Miano M, Leiding JW, Klein C, Stasia MJ, Fischer A, Hsiao KC, Martelius T, Seppänen MRJ, Barmettler S, Walter J, Masmas TN, Mukhina AA, Falcone EL, Kracker S, Shcherbina A, Holland SM, Leto TL, Hsu AP
Blood 2024 Apr 11;143(15):1476-1487. doi: 10.1182/blood.2023022098. PMID: 38194689Free PMC Article
Bilgic Eltan S, Nain E, Catak MC, Ezen E, Sefer AP, Karimi N, Kiykim A, Kolukisa B, Baser D, Bulutoglu A, Kasap N, Yorgun Altunbas M, Yalcin Gungoren E, Kendir Demirkol Y, Kutlug S, Hancioglu G, Dilek F, Yildiran A, Ozen A, Karakoc-Aydiner E, Erman B, Baris S
J Clin Immunol 2023 Dec 22;44(1):26. doi: 10.1007/s10875-023-01620-6. PMID: 38129713
Winer H, Rodrigues GOL, Hixon JA, Aiello FB, Hsu TC, Wachter BT, Li W, Durum SK
Cytokine 2022 Dec;160:156049. Epub 2022 Oct 3 doi: 10.1016/j.cyto.2022.156049. PMID: 36201890
Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA
Nat Cell Biol 2015 Aug;17(8):1074-1087. Epub 2015 Jul 13 doi: 10.1038/ncb3201. PMID: 26167768Free PMC Article
Su HC, Jing H, Zhang Q
Ann N Y Acad Sci 2011 Dec;1246:26-33. doi: 10.1111/j.1749-6632.2011.06295.x. PMID: 22236427

Recent systematic reviews

Zhao R, Sekar P, Bennis SL, Kulasingam S
Prev Med 2023 May;170:107494. Epub 2023 Mar 29 doi: 10.1016/j.ypmed.2023.107494. PMID: 37001607
Van't Hoog A, Viney K, Biermann O, Yang B, Leeflang MM, Langendam MW
Cochrane Database Syst Rev 2022 Mar 23;3(3):CD010890. doi: 10.1002/14651858.CD010890.pub2. PMID: 35320584Free PMC Article
Rough K, Sun JW, Seage GR 3rd, Williams PL, Huybrechts KF, Bateman BT, Hernandez-Diaz S
AIDS 2017 Jul 31;31(12):1733-1743. doi: 10.1097/QAD.0000000000001549. PMID: 28537936Free PMC Article
Uthman OA, Nachega JB, Anderson J, Kanters S, Mills EJ, Renaud F, Essajee S, Doherty MC, Mofenson LM
Lancet HIV 2017 Jan;4(1):e21-e30. Epub 2016 Nov 16 doi: 10.1016/S2352-3018(16)30195-3. PMID: 27864000
Ford N, Shubber Z, Jao J, Abrams EJ, Frigati L, Mofenson L
J Acquir Immune Defic Syndr 2014 Aug 15;66(5):512-21. doi: 10.1097/QAI.0000000000000211. PMID: 24853309Free PMC Article

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