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Neutrophil actin dysfunction(NAD)

MedGen UID:
338036
Concept ID:
C1850380
Disease or Syndrome
Synonyms: NAD
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 257150

Clinical features

Recurrent bacterial infections
MedGen UID:
893153
Concept ID:
C4020846
Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding

Recent clinical studies

Clinical prediction guides

Jung LK
Clin Immunol Immunopathol 1991 Oct;61(1):41-54. PMID: 1959239

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