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Immunodeficiency 26 with or without neurologic abnormalities(IMD26)

MedGen UID:
863270
Concept ID:
C4014833
Disease or Syndrome
Synonyms: IMD26; IMMUNODEFICIENCY 26 WITH NEUROLOGIC ABNORMALITIES
 
Gene (location): PRKDC (8q11.21)
 
Monarch Initiative: MONDO:0014423
OMIM®: 615966
Orphanet: ORPHA317425

Definition

Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation. [from ORDO]

Clinical features

From HPO
Micropenis
MedGen UID:
1633603
Concept ID:
C4551492
Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Overlapping fingers
MedGen UID:
252954
Concept ID:
C1446712
Finding
A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Disease or Syndrome
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Underdevelopment of the corpus callosum.
Cerebellar vermis hypoplasia
MedGen UID:
333548
Concept ID:
C1840379
Finding
Underdevelopment of the vermis of cerebellum.
Simplified gyral pattern
MedGen UID:
413664
Concept ID:
C2749675
Finding
An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.
CNS hypomyelination
MedGen UID:
892446
Concept ID:
C4025616
Finding
Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.
Brain atrophy
MedGen UID:
1643639
Concept ID:
C4551584
Disease or Syndrome
Partial or complete wasting (loss) of brain tissue that was once present.
Pachygyria
MedGen UID:
504794
Concept ID:
CN001193
Finding
Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Recurrent lower respiratory tract infections
MedGen UID:
756211
Concept ID:
C3163798
Disease or Syndrome
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Severe combined immunodeficiency disease
MedGen UID:
88328
Concept ID:
C0085110
Disease or Syndrome
A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.
Prominent forehead
MedGen UID:
373291
Concept ID:
C1837260
Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Thin upper lip vermilion
MedGen UID:
355352
Concept ID:
C1865017
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Recurrent aphthous stomatitis
MedGen UID:
445425
Concept ID:
C2937365
Disease or Syndrome
Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.
Short chin
MedGen UID:
784514
Concept ID:
C3697248
Finding
Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.
Deeply set eye
MedGen UID:
473112
Concept ID:
C0423224
Finding
An eye that is more deeply recessed into the plane of the face than is typical.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImmunodeficiency 26 with or without neurologic abnormalities

Recent clinical studies

Etiology

Garrelfs MR, Takada S, Kamsteeg EJ, Pegge S, Mancini G, Engelen M, van de Warrenburg B, Rennings A, van Gaalen J, Peters I, Weemaes C, van der Burg M, Willemsen MA
Pediatr Neurol 2020 Dec;113:26-32. Epub 2020 Jul 28 doi: 10.1016/j.pediatrneurol.2020.07.014. PMID: 32980744
Peluso MJ, Ferretti F, Peterson J, Lee E, Fuchs D, Boschini A, Gisslén M, Angoff N, Price RW, Cinque P, Spudich S
AIDS 2012 Sep 10;26(14):1765-74. doi: 10.1097/QAD.0b013e328355e6b2. PMID: 22614889Free PMC Article
Waruiru C, Slatter MA, Taylor C, Ramesh V, Flood TJ, Abinun M, Cant AJ, Gennery AR
Pediatr Infect Dis J 2007 Feb;26(2):129-33. doi: 10.1097/01.inf.0000250621.46742.b5. PMID: 17259874
Teja VD, Talasila SR, Vemu L
AIDS Read 2005 Mar;15(3):139-43, C3. PMID: 15786577
Drotar D, Olness K, Wiznitzer M, Guay L, Marum L, Svilar G, Hom D, Fagan JF, Ndugwa C, Kiziri-Mayengo R
Pediatrics 1997 Jul;100(1):E5. doi: 10.1542/peds.100.1.e5. PMID: 9200379

Diagnosis

Abtibol-Bernardino MR, de Almeida Peixoto LFA, de Oliveira GA, de Almeida TF, Rodrigues GRI, Otani RH, Soares Chaves BC, de Souza Rodrigues C, de Andrade ABCA, de Fatima Redivo E, Fernandes SS, da Costa Castilho M, Gomes Benzecry S, Bôtto-Menezes C, Martinez-Espinosa FE, Costa Alecrim MDG
Viruses 2020 Nov 20;12(11) doi: 10.3390/v12111335. PMID: 33233769Free PMC Article
Garrelfs MR, Takada S, Kamsteeg EJ, Pegge S, Mancini G, Engelen M, van de Warrenburg B, Rennings A, van Gaalen J, Peters I, Weemaes C, van der Burg M, Willemsen MA
Pediatr Neurol 2020 Dec;113:26-32. Epub 2020 Jul 28 doi: 10.1016/j.pediatrneurol.2020.07.014. PMID: 32980744
Teja VD, Talasila SR, Vemu L
AIDS Read 2005 Mar;15(3):139-43, C3. PMID: 15786577
Kim HJ, Kim S, Lee KB, Lee KW, Oh MD, Choe KW
J Korean Med Sci 2003 Apr;18(2):149-57. doi: 10.3346/jkms.2003.18.2.149. PMID: 12692408Free PMC Article
Drotar D, Olness K, Wiznitzer M, Guay L, Marum L, Svilar G, Hom D, Fagan JF, Ndugwa C, Kiziri-Mayengo R
Pediatrics 1997 Jul;100(1):E5. doi: 10.1542/peds.100.1.e5. PMID: 9200379

Therapy

Peluso MJ, Ferretti F, Peterson J, Lee E, Fuchs D, Boschini A, Gisslén M, Angoff N, Price RW, Cinque P, Spudich S
AIDS 2012 Sep 10;26(14):1765-74. doi: 10.1097/QAD.0b013e328355e6b2. PMID: 22614889Free PMC Article
Tardieu M, Brunelle F, Raybaud C, Ball W, Barret B, Pautard B, Lachassine E, Mayaux MJ, Blanche S
AJNR Am J Neuroradiol 2005 Apr;26(4):695-701. PMID: 15814907Free PMC Article
Drotar D, Olness K, Wiznitzer M, Guay L, Marum L, Svilar G, Hom D, Fagan JF, Ndugwa C, Kiziri-Mayengo R
Pediatrics 1997 Jul;100(1):E5. doi: 10.1542/peds.100.1.e5. PMID: 9200379
Berger AR, Arezzo JC, Schaumburg HH, Skowron G, Merigan T, Bozzette S, Richman D, Soo W
Neurology 1993 Feb;43(2):358-62. doi: 10.1212/wnl.43.2.358. PMID: 8382349

Prognosis

Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H
Brain 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393. PMID: 26917586Free PMC Article
Teja VD, Talasila SR, Vemu L
AIDS Read 2005 Mar;15(3):139-43, C3. PMID: 15786577
Drotar D, Olness K, Wiznitzer M, Guay L, Marum L, Svilar G, Hom D, Fagan JF, Ndugwa C, Kiziri-Mayengo R
Pediatrics 1997 Jul;100(1):E5. doi: 10.1542/peds.100.1.e5. PMID: 9200379
Birdsall HH, Ozluoglu LN, Lew HL, Trial J, Brown DP, Wofford MJ, Jerger JF, Rossen RD
Otolaryngol Head Neck Surg 1994 Jan;110(1):53-9. doi: 10.1177/019459989411000106. PMID: 8290302

Clinical prediction guides

Kieslich M, Hoche F, Reichenbach J, Weidauer S, Porto L, Vlaho S, Schubert R, Zielen S
Cerebellum 2010 Jun;9(2):190-7. doi: 10.1007/s12311-009-0138-0. PMID: 19898915
Tardieu M, Brunelle F, Raybaud C, Ball W, Barret B, Pautard B, Lachassine E, Mayaux MJ, Blanche S
AJNR Am J Neuroradiol 2005 Apr;26(4):695-701. PMID: 15814907Free PMC Article
Teja VD, Talasila SR, Vemu L
AIDS Read 2005 Mar;15(3):139-43, C3. PMID: 15786577
Drotar D, Olness K, Wiznitzer M, Guay L, Marum L, Svilar G, Hom D, Fagan JF, Ndugwa C, Kiziri-Mayengo R
Pediatrics 1997 Jul;100(1):E5. doi: 10.1542/peds.100.1.e5. PMID: 9200379
Birdsall HH, Ozluoglu LN, Lew HL, Trial J, Brown DP, Wofford MJ, Jerger JF, Rossen RD
Otolaryngol Head Neck Surg 1994 Jan;110(1):53-9. doi: 10.1177/019459989411000106. PMID: 8290302

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