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Immunodeficiency 19(IMD19)

MedGen UID:
816477
•Concept ID:
C3810147
•
Disease or Syndrome
Synonyms: CD3-DELTA DEFICIENCY; IMD19; IMMUNODEFICIENCY 19, SEVERE COMBINED; SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE; SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE
 
Gene (location): CD3D (11q23.3)
 
Monarch Initiative: MONDO:0014280
OMIM®: 615617

Definition

Severe combined immunodeficiency-19 (IMD19) is an autosomal recessive disorder characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic workup shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype. The disorder is lethal in early childhood without bone marrow transplantation (summary by Yu et al., 2011). [from OMIM]

Clinical features

From HPO
Failure to thrive
MedGen UID:
746019
•Concept ID:
C2315100
•
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
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Chronic diarrhea
MedGen UID:
96036
•Concept ID:
C0401151
•
Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
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Recurrent respiratory infections
MedGen UID:
812812
•Concept ID:
C3806482
•
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
See: Feature record | Search on this feature
Severe combined immunodeficiency disease
MedGen UID:
88328
•Concept ID:
C0085110
•
Disease or Syndrome
A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.
See: Feature record | Search on this feature
Recurrent otitis media
MedGen UID:
155436
•Concept ID:
C0747085
•
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
See: Feature record | Search on this feature
T lymphocytopenia
MedGen UID:
419385
•Concept ID:
C2931322
•
Finding
An abnormally low count of T cells.
See: Feature record | Search on this feature
Severe viral infection
MedGen UID:
479058
•Concept ID:
C3277428
•
Finding
An unusually severe viral infection.
See: Feature record | Search on this feature
Abnormal natural killer cell morphology
MedGen UID:
866748
•Concept ID:
C4021098
•
Anatomical Abnormality
An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells.
See: Feature record | Search on this feature
Abnormal B cell morphology
MedGen UID:
867383
•Concept ID:
C4021748
•
Finding
A structural abnormality of B cells.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Predictive factors in treatment response of malignant external otitis.
Zonnour A, Jamshidi A, Dabiri S, Hasibi M, Tajdini A, Karrabi N, Yazdani N
Eur Arch Otorhinolaryngol 2023 Jan;280(1):159-166. Epub 2022 Jun 25 doi: 10.1007/s00405-022-07478-5. PMID: 35751693

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