Failure to thrive, and Lymphopenia

Diseases related with Failure to thrive and Lymphopenia

In the following list you will find some of the most common rare diseases related to Failure to thrive and Lymphopenia that can help you solving undiagnosed cases.

Top matches:

Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.

COMBINED IMMUNODEFICIENCY DUE TO CD3GAMMA DEFICIENCY Is also known as scid-like immunodeficiency, t cell-partial, b cell-positive, nk cell-positive|cd3-gamma deficiency

Related symptoms:

  • Failure to thrive
  • Anemia
  • Immunodeficiency
  • Recurrent infections
  • Recurrent respiratory infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO CD3GAMMA DEFICIENCY

Immunodeficiency-19 (IMD19) is an autosomal recessive form of severe combined immunodeficiency (SCID) 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 work-up 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).

IMMUNODEFICIENCY 19; IMD19 Is also known as scid, t cell-negative, b cell-positive, nk cell-positive|cd3-delta deficiency|severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive

Related symptoms:

  • Failure to thrive
  • Fever
  • Respiratory distress
  • Diarrhea
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 19; IMD19

T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY Is also known as scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive|t-b+ scid due to il-7ralpha deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Fever
  • Diarrhea


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY

Other less relevant matches:

Related symptoms:

  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 57; IMD57

Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE RAG1/2 DEFICIENCY Is also known as scid, t cell-negative, b cell-negative, nk cell-positive|scid due to complete rag1/2 deficiency

Related symptoms:

  • Failure to thrive
  • Fever
  • Diarrhea
  • Immunodeficiency
  • Pneumonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE RAG1/2 DEFICIENCY

IMD52 is an autosomal recessive primary immunodeficiency with variable manifestations, including severe combined immunodeficiency, hematologic autoimmune disorders, progressive lymphopenia and hypogammaglobulinemia, and lymphoproliferation with splenomegaly. Patients develop severe recurrent infections from infancy, and most die without bone marrow transplantation. The variable clinical features result from a defect in T-cell receptor signaling (summary by Keller et al., 2016 and Bacchelli et al., 2017).

SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY Is also known as scid due to lat deficiency

Related symptoms:

  • Failure to thrive
  • Anemia
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY

SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1 Is also known as xscid|severe combined immunodeficiency, x-linked, t cell-negative, b cell-positive, nk cell-negative|imd4|scidx|immunodeficiency 4|scid, x-linked

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Diarrhea
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1

Medium match RETICULAR DYSGENESIS

Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.

RETICULAR DYSGENESIS Is also known as congenital aleukia|scid with leukopenia|de vaal disease|hematopoietic hypoplasia, generalized|reticular dysgenesia|congenital aleukocytosis|severe combined immunodeficiency with leukopenia|ak2 deficiency|aleukocytosis|generalized hematopoietic hypoplasia

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Anemia
  • Fever
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETICULAR DYSGENESIS

SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION Is also known as rs-scid|scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with sensitivity to ionizing radiation

Related symptoms:

  • Failure to thrive
  • Fever
  • Abnormality of the skeletal system
  • Diarrhea
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION

SEVERE COMBINED IMMUNODEFICIENCY DUE TO LCK DEFICIENCY Is also known as scid due to lck deficiency|severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency|scid due to lymphocyte-specific protein tyrosine kinase deficiency

Related symptoms:

  • Failure to thrive
  • Anemia
  • Fever
  • Diarrhea
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO LCK DEFICIENCY

Top 5 symptoms//phenotypes associated to Failure to thrive and Lymphopenia

Symptoms // Phenotype % cases
Immunodeficiency Very Common - Between 80% and 100% cases
Severe combined immunodeficiency Very Common - Between 80% and 100% cases
Combined immunodeficiency Common - Between 50% and 80% cases
Diarrhea Common - Between 50% and 80% cases
Decreased antibody level in blood Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Failure to thrive and Lymphopenia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Fever

Uncommon Symptoms - Between 30% and 50% cases

Anemia Pneumonia Skin rash Recurrent respiratory infections Recurrent infections Hypoplasia of the thymus Hepatosplenomegaly Chronic diarrhea Respiratory tract infection Lymphadenopathy Otitis media Recurrent otitis media Autoimmunity Decrease in T cell count

Rare Symptoms - Less than 30% cases

Arthritis Aplasia of the thymus Oral ulcer Recurrent opportunistic infections Failure to thrive secondary to recurrent infections Panhypogammaglobulinemia Bronchiectasis Abnormal lung morphology Recurrent pneumonia Vasculitis Chronic lung disease Agammaglobulinemia Hemolytic anemia Thrombocytopenia Eczema Malabsorption Splenomegaly Autoimmune hemolytic anemia Growth delay Hepatomegaly Meningitis Inflammation of the large intestine Impaired T cell function Abnormality of neutrophils Granulocytopenia Aplasia/Hypoplasia of the thymus Abnormality of the thymus IgA deficiency Chronic otitis media Abnormality of mitochondrial metabolism Leukopenia Skin ulcer Dehydration Cellular immunodeficiency Decreased proportion of CD4-positive T cells Agranulocytosis Recurrent upper respiratory tract infections Protracted diarrhea Ascites Panniculitis Absent tonsils Lymph node hypoplasia Genital ulcers Increased sensitivity to ionizing radiation Retinal vasculitis Congenital agranulocytosis Recurrent skin infections Weight loss Lymphoma Cirrhosis Abnormality of the skeletal system Lack of T cell function Pericarditis Sepsis Conjunctivitis Hearing impairment Hepatic failure Inflammatory abnormality of the skin Pancytopenia Cough Gastroesophageal reflux Tachypnea Hepatitis Tachycardia Vomiting Respiratory distress Recurrent gastroenteritis Decreased proportion of CD8-positive T cells Bronchiolitis obliterans Bronchiolitis Abnormal intestine morphology Increased body weight Gastritis Recurrent bacterial meningitis Bronchitis Chronic oral candidiasis Plethora Humoral immunodeficiency Choroideremia Recurrent fungal infections Recurrent bronchitis Immune dysregulation Bloody diarrhea Increased antibody level in blood Cerebral palsy Leukoencephalopathy Recurrent urinary tract infections Mastoiditis B lymphocytopenia Capillary leak


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