T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency

disorder

SNOMED 718107000CUI C1833275

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormality of B cell physiology

Always present (100%)HP:0005372

Absent peripheral lymph nodes in presence of infection

Always present (100%)HP:0033581

Decreased anti-CD3/28-induced T-cell proliferation

Always present (100%)HP:0031382

Lower respiratory tract infections

Always present (100%)HP:0002783

Panypogammaglobulinemia

Always present (100%)HP:0003139

Pneumonia

Always present (100%)HP:0002090

Recurrent middle ear infection

Always present (100%)HP:0000403

Recurrent URI

Always present (100%)HP:0002788

Absent cellular immunity

Very frequent (80-99%)HP:0005354

Decreased mitogen-induced T-cell proliferation

Very frequent (80-99%)HP:0031381

Impaired lymphocyte transformation with phytohemagglutinin

Very frequent (80-99%)HP:0003347

Reduced number of T cells

Very frequent (80-99%)HP:0005403

Absent natural killer cells

Frequent (30-79%)HP:0040219

Absolute lymphocyte count decrease

Frequent (30-79%)HP:0001888

Chronic diarrhoea

Frequent (30-79%)HP:0002028

Chronic oral thrush

Frequent (30-79%)HP:0009098

Frequent opportunistic infections

Frequent (30-79%)HP:0005390

Poor weight gain

Frequent (30-79%)HP:0001508

respiratory infections, recurrent

Frequent (30-79%)HP:0002205

Acute middle ear infection

Occasional (5-29%)HP:0000371

B cell lymphopenia

Occasional (5-29%)HP:0010976

Decreased circulating total IgM

Occasional (5-29%)HP:0002850

Decreased serum IgG

Occasional (5-29%)HP:0004315

Failure to thrive in first year of life

Occasional (5-29%)HP:0001531

Gastrointestinal infections

Occasional (5-29%)HP:0004798

Multiple pulmonary infections

Occasional (5-29%)HP:0006532

Partial IgA deficiency

Occasional (5-29%)HP:0011837

Pimple

Occasional (5-29%)HP:0200039

Recurrent viral infections

Occasional (5-29%)HP:0004429

Hepatosplenomegaly

Very rare (1-4%)HP:0001433

Related Conditions

Autosomal recessive severe combined immunodeficiency disease(parent)

T-B+ SCID - T-cell negative B-cell positive severe combined immunodeficiency(parent)

Quick Facts

SNOMED CT: 718107000
UMLS CUI: C1833275
Fully Specified Name: Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.