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Leaky Severe Combined Immunodeficiency

MedGen UID:
1791958
•Concept ID:
C5555517
•
Disease or Syndrome
Synonym: leaky SCID

Definition

A form of severe combined immunodeficiency (SCID) that presents with T-cell counts that are higher than typical for SCID, and variable signs and symptoms including: itchy, erythematous skin, alopecia, hepatosplenomegaly, lymphadenopathy, anemia, thyroid dysfunction and diarrhea. T-cell counts may initially be noted to be within normal ranges since some may ""leak"" through into the peripheral blood affecting proper measurement. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLeaky Severe Combined Immunodeficiency

Professional guidelines

PubMed

The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions.
Dvorak CC, Haddad E, Heimall J, Dunn E, Buckley RH, Kohn DB, Cowan MJ, Pai SY, Griffith LM, Cuvelier GDE, Eissa H, Shah AJ, O'Reilly RJ, Pulsipher MA, Wright NAM, Abraham RS, Satter LF, Notarangelo LD, Puck JM
J Allergy Clin Immunol 2023 Feb;151(2):539-546. Epub 2022 Nov 28 doi: 10.1016/j.jaci.2022.10.022. PMID: 36456361Free PMC Article
Newborn Screening for Severe Combined Immunodeficiency.
Taki M, Miah T, Secord E
Immunol Allergy Clin North Am 2021 Nov;41(4):543-553. doi: 10.1016/j.iac.2021.07.007. PMID: 34602227
Newborn Screening for Severe Combined Immunodeficiency.
Taki M, Miah T, Secord E
Pediatr Clin North Am 2019 Oct;66(5):913-923. doi: 10.1016/j.pcl.2019.06.007. PMID: 31466681

Recent clinical studies

Etiology

Variable clinical presentation of hypomorphic DCLRE1C deficiency from childhood to adulthood.
Hazar E, Karaselek MA, Kapakli H, Dogar O, Kuccukturk S, Uygun V, Artac H, Fındık S, Sahin A, Arslan S, Guner S, Reisli I, Keles S
Pediatr Allergy Immunol 2024 Oct;35(10):e14260. doi: 10.1111/pai.14260. PMID: 39425552

Diagnosis

Variable clinical presentation of hypomorphic DCLRE1C deficiency from childhood to adulthood.
Hazar E, Karaselek MA, Kapakli H, Dogar O, Kuccukturk S, Uygun V, Artac H, Fındık S, Sahin A, Arslan S, Guner S, Reisli I, Keles S
Pediatr Allergy Immunol 2024 Oct;35(10):e14260. doi: 10.1111/pai.14260. PMID: 39425552
Do not let them slip through the net: Catching a case of leaky severe combined immunodeficiency.
Reeve L, Preece K, Markle J, Casanova JL, Walls T
J Paediatr Child Health 2020 May;56(5):809-811. Epub 2019 Nov 13 doi: 10.1111/jpc.14690. PMID: 31721334
Highly variable clinical phenotypes of hypomorphic RAG1 mutations.
Avila EM, Uzel G, Hsu A, Milner JD, Turner ML, Pittaluga S, Freeman AF, Holland SM
Pediatrics 2010 Nov;126(5):e1248-52. Epub 2010 Oct 18 doi: 10.1542/peds.2009-3171. PMID: 20956421

Therapy

A Herpes Simplex Virus 1 DNA Polymerase Multidrug Resistance Mutation Identified in a Patient With Immunodeficiency and Confirmed by Gene Editing.
Schalkwijk HH, Georgala A, Gillemot S, Temblador A, Topalis D, Wittnebel S, Andrei G, Snoeck R
J Infect Dis 2023 Nov 28;228(11):1505-1515. doi: 10.1093/infdis/jiad184. PMID: 37224525
Two siblings with PRKDC defect who presented with cutaneous granulomas and review of the literature.
Esenboga S, Akal C, Karaatmaca B, Erman B, Dogan S, Orhan D, Boztug K, Ayvaz D, Tezcan İ
Clin Immunol 2018 Dec;197:1-5. Epub 2018 Aug 16 doi: 10.1016/j.clim.2018.08.002. PMID: 30121298
Cytotoxic T-lymphocyte-associated protein 4-Ig effectively controls immune activation and inflammatory disease in a novel murine model of leaky severe combined immunodeficiency.
Humblet-Baron S, Schönefeldt S, Garcia-Perez JE, Baron F, Pasciuto E, Liston A
J Allergy Clin Immunol 2017 Nov;140(5):1394-1403.e8. Epub 2017 Feb 7 doi: 10.1016/j.jaci.2016.12.968. PMID: 28185879

Prognosis

Variable clinical presentation of hypomorphic DCLRE1C deficiency from childhood to adulthood.
Hazar E, Karaselek MA, Kapakli H, Dogar O, Kuccukturk S, Uygun V, Artac H, Fındık S, Sahin A, Arslan S, Guner S, Reisli I, Keles S
Pediatr Allergy Immunol 2024 Oct;35(10):e14260. doi: 10.1111/pai.14260. PMID: 39425552
Highly variable clinical phenotypes of hypomorphic RAG1 mutations.
Avila EM, Uzel G, Hsu A, Milner JD, Turner ML, Pittaluga S, Freeman AF, Holland SM
Pediatrics 2010 Nov;126(5):e1248-52. Epub 2010 Oct 18 doi: 10.1542/peds.2009-3171. PMID: 20956421

Clinical prediction guides

Variable clinical presentation of hypomorphic DCLRE1C deficiency from childhood to adulthood.
Hazar E, Karaselek MA, Kapakli H, Dogar O, Kuccukturk S, Uygun V, Artac H, Fındık S, Sahin A, Arslan S, Guner S, Reisli I, Keles S
Pediatr Allergy Immunol 2024 Oct;35(10):e14260. doi: 10.1111/pai.14260. PMID: 39425552
Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction.
Moens L, Gouwy M, Bosch B, Pastukhov O, Nieto-Patlàn A, Siler U, Bucciol G, Mekahli D, Vermeulen F, Desmet L, Maebe S, Flipts H, Corveleyn A, Moshous D, Philippet P, Tangye SG, Boisson B, Casanova JL, Florkin B, Struyf S, Reichenbach J, Bustamante J, Notarangelo LD, Meyts I
J Clin Immunol 2019 Apr;39(3):298-308. Epub 2019 Mar 5 doi: 10.1007/s10875-019-00603-w. PMID: 30838481Free PMC Article
Omenn syndrome: inflammation in leaky severe combined immunodeficiency.
Villa A, Notarangelo LD, Roifman CM
J Allergy Clin Immunol 2008 Dec;122(6):1082-6. Epub 2008 Nov 6 doi: 10.1016/j.jaci.2008.09.037. PMID: 18992930

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