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SCID (severe combined immunodeficiency) due to absent lymphoid stem cells

MedGen UID:
95935
•Concept ID:
C0392607
•
Disease or Syndrome
Synonyms: ADA-SCID; Adenosine Deaminase Deficient Severe Combined Immunodeficiency; Adenosine deaminase-deficient severe combined immunodeficiency disease; Agammaglobulinemia, Swiss type; Bubble boy disease; SCID Due to ADA Deficiency; SCID Due to ADA Deficiency, Early-Onset; SCID1; Severe combined immunodeficiency due to adenosine deaminase deficiency; Severe combined immunodeficiency, alymphocytotic type; Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
SNOMED CT: Severe combined immunodeficiency due to absent lymphoid stem cells (22406001); Swiss type agammaglobulinemia (22406001); SCID (severe combined immunodeficiency) due to absent lymphoid stem cells (22406001)
 
OMIM®: 102700

Definition

Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections. [from ORPHANET]

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

Recent clinical studies

Diagnosis

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
Diagnosis and Treatment of a Patient With Severe Combined Immunodeficiency Due to a Novel Homozygous Mutation in the IL-7Rα Chain.
Mansour R, Bsat YE, Fadel A, El-Orfali Y, Noun D, Tarek N, Kabbara N, Abboud M, Massaad MJ
Front Immunol 2022;13:867837. Epub 2022 Mar 28 doi: 10.3389/fimmu.2022.867837. PMID: 35418989Free PMC Article
Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation.
Punwani D, Wang H, Chan AY, Cowan MJ, Mallott J, Sunderam U, Mollenauer M, Srinivasan R, Brenner SE, Mulder A, Claas FH, Weiss A, Puck JM
J Clin Immunol 2015 Feb;35(2):135-46. Epub 2015 Jan 28 doi: 10.1007/s10875-014-0125-1. PMID: 25627829Free PMC Article

Prognosis

From Severe Combined Immunodeficiency to Omenn syndrome after hematopoietic stem cell transplantation in a RAG1 deficient family.
Martinez-Martinez L, Vazquez-Ortiz M, Gonzalez-Santesteban C, Martin-Nalda A, Vicente A, Plaza AM, Badell I, Alsina L, de la Calle-Martin O
Pediatr Allergy Immunol 2012 Nov;23(7):660-6. Epub 2012 Aug 13 doi: 10.1111/j.1399-3038.2012.01339.x. PMID: 22882342

Clinical prediction guides

Evidence of innate lymphoid cell redundancy in humans.
Vély F, Barlogis V, Vallentin B, Neven B, Piperoglou C, Ebbo M, Perchet T, Petit M, Yessaad N, Touzot F, Bruneau J, Mahlaoui N, Zucchini N, Farnarier C, Michel G, Moshous D, Blanche S, Dujardin A, Spits H, Distler JH, Ramming A, Picard C, Golub R, Fischer A, Vivier E
Nat Immunol 2016 Nov;17(11):1291-1299. Epub 2016 Sep 12 doi: 10.1038/ni.3553. PMID: 27618553Free PMC Article
Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation.
Punwani D, Wang H, Chan AY, Cowan MJ, Mallott J, Sunderam U, Mollenauer M, Srinivasan R, Brenner SE, Mulder A, Claas FH, Weiss A, Puck JM
J Clin Immunol 2015 Feb;35(2):135-46. Epub 2015 Jan 28 doi: 10.1007/s10875-014-0125-1. PMID: 25627829Free PMC Article

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