Which physical findings are characteristic of severe combined immunodeficiency (SCID)?

Updated: Apr 28, 2021
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Harumi Jyonouchi, MD  more...
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Physical findings are multisystemic. The abnormal findings are primarily related to the various superimposed infections or to graft-versus-host disease (GVHD) rather than to SCID itself. The patient may present with the following:

  • Failure to thrive, manifesting as decreased weight, height, and head circumference

  • Dehydration from chronic diarrhea

  • Recurrent, painful otitis media, which may be more severe than typical, is common

  • Eczematous rash from GVHD, which may be mistaken for atopic dermatitis, especially in Omenn syndrome

  • Increased respiratory rate and effort and crepitations secondary to pneumonia (especially PCP)

  • Fever from sepsis, systemic fungal infections, or generalized herpes

  • Absent lymphatic tissue, including tonsils; lack of recognizable peripheral lymphoid organs should raise suspicion of SCID in children with multiple aggressive infections

  • Lymphadenopathy and hepatosplenomegaly in Omenn syndrome or bare lymphocyte syndrome

  • Neurologic sequelae and developmental regression (loss of developmental milestones), especially in purine nucleotide phosphorylase (PNP) deficiency (the cause of which is genetic, not infectious); neurologic perturbation also occurs secondary to central nervous system (CNS) infection

  • Abdominal findings, including tenderness secondary to gastrointestinal (GI) infections and hepatomegaly from viral hepatitis

  • Candidiasis

Infants with SCID have an extensive and diverse group of cutaneous disorders. Recurrent skin abscesses are present. Extensive candidiasis in the mouth and diaper area may persist beyond the neonatal period and may involve the rest of the skin. Severe seborrheic dermatitis is observed over the scalp, ears, and nasolabial folds. Intractable eczemalike dermatitis is noted. Impetigo and severe skin infections with deep ulcers in the perineum, tongue, and buccal mucosa are observed. Recurrent furunculosis may develop.

A generalized herpetic dermatitis may also be noted. Cutaneous manifestations of GVHD may also be present from maternally derived T cells that are reacting host cells in the absence of opposing host T cells. Such manifestations include the following:

  • In the acute setting, a maculopapular or morbilliform rash can occur and progress to erythroderma and exfoliative dermatitis

  • In chronic GVHD, lichenoid or sclerodermoid lesions are described

The dermatologic disorders of incontinentia pigmenti and hypohidrotic ectodermal dysplasia are associated with severe pneumococcal infections and progressive bronchiectasis, even with immunoglobulin (Ig) replacement.

Dermatophytosis is uncommon in SCID patients, although a case has been described with widespread tinea corporis due to Trichophyton mentagrophytes. [34] Children with Artemis-deficient SCID additionally suffer from numerous oral and genital ulcers. Some patients with a mild form of JAK3-deficient SCID may present with extensive cutaneous transitory warts.

Adenosine deaminase (ADA) deficiency is accompanied by abnormalities to ribs and vertebrae caused by defects in cartilaginous structures.

Sparse hair, abnormal dentition, and osteopetrosis are other manifestations in SCID patients. Hypomorphic heterozygous mutations in IKBA causes autosomal dominant ectodermal dysplasia with immunodeficiency (AD-EDA-ID) with impaired nuclear factor kappa B (NFκB) signaling pathways; however, this defect also causes severely impaired T-cell receptor (TCR) signaling with the resultant clinical phenotype of SCID.

Unique features of Omenn syndrome and the Omennlike syndrome caused by GVHD include erythroderma, lymphoid hyperplasia, hypereosinophilia, and hepatosplenomegaly. Growing numbers of leaky SCID mutations have been shown to manifest Omenn syndrome; accordingly, this syndrome is now considered to consist of dysregulated inflammatory processes revealed in leaky SCID.

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