Congenital T-cell immunodeficiency

MedGen UID:: 232099
•Concept ID:: C1333147
•: Disease or Syndrome

Synonyms:	Congenital T-Cell Immunodeficiency; congenital T-cell immunodeficiency; T cell deficiency

Monarch Initiative:	MONDO:0001222

Definition

A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital T-cell immunodeficiency

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Hereditary disease
      - Congenital T-cell immunodeficiency
        DiGeorge syndrome

Professional guidelines

PubMed

Primary and secondary defects of the thymus.

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: 38228406 Free PMC Article

Impact of newborn screening for SCID on the management of congenital athymia.

Howley E, Golwala Z, Buckland M, Barzaghi F, Ghosh S, Hackett S, Hague R, Hauck F, Holzer U, Klocperk A, Koskenvuo M, Marcus N, Marzollo A, Pac M, Sinclair J, Speckmann C, Soomann M, Speirs L, Suresh S, Taque S, van Montfrans J, von Bernuth H, Wainstein BK, Worth A, Davies EG, Kreins AY
J Allergy Clin Immunol 2024 Jan;153(1):330-334. Epub 2023 Sep 9 doi: 10.1016/j.jaci.2023.08.031. PMID: 37678573 Free PMC Article

Newborn Screening for Severe Combined Immunodeficiency.

Routes J, Verbsky J
Curr Allergy Asthma Rep 2018 May 10;18(6):34. doi: 10.1007/s11882-018-0783-9. PMID: 29749587

See all (19)

Recent clinical studies

Etiology

Crusted scabies in two immunocompromised children: successful treatment with oral ivermectin.

Patel A, Hogan P, Walder B
Australas J Dermatol 1999 Feb;40(1):37-40. doi: 10.1046/j.1440-0960.1999.00314.x. PMID: 10098288

Chronic enteric virus infection in two T-cell immunodeficient children.

Wood DJ, David TJ, Chrystie IL, Totterdell B
J Med Virol 1988 Apr;24(4):435-44. doi: 10.1002/jmv.1890240410. PMID: 2835434

See all (2)

Diagnosis

Activity of blinatumomab in lymphoblastic leukemia with impaired T-cell immunity due to congenital immunodeficiency.

Ramdeny S, Chaudhary A, Worth A, Ghorashian S, Slatter M, Lum SH, Vora A
Blood Adv 2021 Apr 27;5(8):2153-2155. doi: 10.1182/bloodadvances.2021004284. PMID: 33881461 Free PMC Article

Herpes simplex vegetans presenting as an eyelid mass.

Blieden LS, Chévez-Barrios P, Yen MT
Ophthalmic Plast Reconstr Surg 2011 May-Jun;27(3):e58-9. doi: 10.1097/IOP.0b013e3181e97922. PMID: 20829726

Crusted scabies in two immunocompromised children: successful treatment with oral ivermectin.

Patel A, Hogan P, Walder B
Australas J Dermatol 1999 Feb;40(1):37-40. doi: 10.1046/j.1440-0960.1999.00314.x. PMID: 10098288

See all (3)

Therapy

Activity of blinatumomab in lymphoblastic leukemia with impaired T-cell immunity due to congenital immunodeficiency.

Ramdeny S, Chaudhary A, Worth A, Ghorashian S, Slatter M, Lum SH, Vora A
Blood Adv 2021 Apr 27;5(8):2153-2155. doi: 10.1182/bloodadvances.2021004284. PMID: 33881461 Free PMC Article

Herpes simplex vegetans presenting as an eyelid mass.

Blieden LS, Chévez-Barrios P, Yen MT
Ophthalmic Plast Reconstr Surg 2011 May-Jun;27(3):e58-9. doi: 10.1097/IOP.0b013e3181e97922. PMID: 20829726

Antegrade and retrograde endoscopic approach in the establishment of a neo-esophagus: a novel technique.

Al-Haddad M, Pungpapong S, Wallace MB, Raimondo M, Woodward TA
Gastrointest Endosc 2007 Feb;65(2):290-4. doi: 10.1016/j.gie.2006.08.008. PMID: 17258990

Crusted scabies in two immunocompromised children: successful treatment with oral ivermectin.

Patel A, Hogan P, Walder B
Australas J Dermatol 1999 Feb;40(1):37-40. doi: 10.1046/j.1440-0960.1999.00314.x. PMID: 10098288

See all (4)